| 1. |
- Heim, Sverre, et al.
(författare)
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Cytogenetic nomenclature
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells, - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 19-25
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Bokkapitel (refereegranskat)abstract
- This chapter elaborates on human chromosome nomenclature. It provides a brief summary of the most essential cytogenetic terminology related to the description of chromosome aberrations in neoplastic cells. The chapter outlines criteria for designation of regions and bands for chromosome nomenclature. Regions and bands are numbered consecutively from the centromere outward along each chromosome arm. This chapter outlines guidelines and conventions foy karyotypic nomenclature. It provides a detailed account on nomenclature of tumor cell populations. The introduction of various in situ hybridization technologies into the cytogenetic analysis of interphase and metaphase cells has led the International Standing Committee on Human Cytogenetic Nomenclature to propose an in situ hybridization (ish) nomenclature system that may be used to describe abnormalities at the molecular level by indicating, for example, the presence, absence, amplification, or separation of specific probe signals.
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| 2. |
- Heim, Sverre, et al.
(författare)
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Nonrandom chromosome abnormalities in cancer : An overview
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 26-41
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Bokkapitel (refereegranskat)abstract
- This chapter discusses neoplastic karyotypes. It emphasizes the difference between primary and secondary changes and address the questions of why, how, when, and where chromosome abnormalities arise; compare numerical and structural aberrations in terms of how they contribute to tumor development; and also touch upon the issues of what causes cancer-associated chromosome abnormalities and whether they are necessary and/or sufficient to transform a normal cell into a cancer cell. It discusses some of the more principal differences between the cytogenetic and molecular genetic approaches to the study of acquired somatic cell mutations. Numerous specific chromosomal abnormalities have been detected in almost all tumor types that have been examined. This chapter explores when do chromosome aberrations arise and in which cells do chromosome aberrations arise. It also discusses whether acquired chromosome aberrations are sufficient for neoplastic proliferation. The chapter discusses the general effects of structural and numerical chromosome abnormalities.
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| 3. |
- Heim, Sverre, et al.
(författare)
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Preface to the Fourth Edition
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569
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Bokkapitel (övrigt vetenskapligt/konstnärligt)
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| 4. |
- Mertens, Fredrik, et al.
(författare)
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Tumors of the skin
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 555-565
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Bokkapitel (refereegranskat)abstract
- Skin cancer is the most common malignancy in humans. Clonal chromosome abnormalities have been reported in approximately 100 basal cell epitheliomas (BCC). In contrast to BCC, which has no recognized precursor lesion, squamous cell carcinoma (SCC) of the skin is known to develop through histologic stages, the most important of which are actinic keratosis (squamous cell dysplasia) and carcinoma in situ (severe dysplasia). A wide range of clinically and pathologically different benign and malignant melanocytic tumors are recognized. Appendageal tumors are subdivided into more than 30 benign and malignant subtypes showing apocrine and eccrine differentiation or follicular and sebaceous differentiation. Merkel cell carcinomas have near-diploid karyotypes, often showing rearrangements of chromosome 1. Dermal cylindromas may show similar genetic features to adenoid cystic carcinomas with the occurrence of a t (6; 9) (q22-23; p23-24) leading to a MYB-NFIB fusion gene.
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| 5. |
- Mitelman, Felix, et al.
(författare)
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How it all began : Cancer cytogenetics before sequencing
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 1-10
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Bokkapitel (refereegranskat)abstract
- According to Boveri's hypothesis, chromosome abnormalities were the cellular changes causing the transition from normal to malignant proliferation. Technical difficulties prevented reliable visualization of mammalian chromosomes, in both normal and neoplastic cells, throughout the entire first half of the 20th century. Nowell and Hungerford's discovery greatly stimulated interest in cancer cytogenetics in the early 1960s, but for several reasons, the Ph chromosome long remained an exceptional finding. The advent of molecular genetics in the 1980s and the development of a range of powerful molecular cytogenetic technologies, such as fluorescence in situ hybridization (FISH), multicolor FISH, comparative genomic hybridization (CGH), various array-based genotyping technologies, and DNA and RNA sequencing, have widened one's knowledge and understanding of the molecular mechanisms that are operative in neoplastic initiation and progression. In the 100 years since Boveri first postulated that chromosome change may initiate the carcinogenic process, cancer cytogenetics has come of age.
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| 6. |
- Albin, Maria, et al.
(författare)
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Cytogenetic and morphologic subgroups of myelodysplastic syndromes in relation to occupational and hobby exposures.
- 2003
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Ingår i: Scandinavian Journal of Work, Environment and Health. - 0355-3140. ; 29:5, s. 378-387
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: This study investigated the association between occupational and hobby exposure and the risk of myelodysplastic syndromes (MDS) while focusing on differential patterns of clonal chromosome aberrations and morphologic subgroups. METHODS: A case-referent study was conducted with 330 MDS patients investigated cytogenetically in 1976-1993 (cases) and matched referents. Telephone interviews with either the person or a next-of-kin were used. The participation rate of the cases and referents was 85% and 60%, respectively. Information was obtained from the next-of-kin more often for the cases (88%) than for the referents (26%). Occupational hygienists assessed the exposure using interview data on worktasks and hobbies. Associations with disease risk were evaluated for 10 exposures with a logistic regression analysis. RESULTS: The investigated exposures were generally not associated with cytogenetically abnormal MDS. Effect estimates for specific cytogenetic or morphologic subgroups were generally imprecise. Occupational exposure to extremely low-frequency magnetic fields (EMF) was associated with MDS with a normal karyotype [odds ratio (OR) 2.0, 95% confidence interval (95% CI) 1.0-4.0]. The exposure-response association was consistent for intensity but inconclusive for duration. A decreased risk was observed for MDS, irrespective of karyotypic pattern, among farmers and farmhands (OR 0.53, 95% CI 0.35-0.81). CONCLUSIONS: Cytogenetically abnormal MDS was generally not associated with occupational or hobby exposure to known or suspected genotoxic agents. However, exposure prevalences and intensities were low for several agents. An association was suggested between occupational exposure to EMF and MDS with a normal karyotype. Biases due to differential information quality and selective participation cannot be ruled out.
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| 7. |
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| 8. |
- Andersson, Anna, et al.
(författare)
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Gene expression profiling of leukemic cell lines reveals conserved molecular signatures among subtypes with specific genetic aberrations
- 2005
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 19:6, s. 1042-1050
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Tidskriftsartikel (refereegranskat)abstract
- Hematologic malignancies are characterized by fusion genes of biological/clinical importance. Immortalized cell lines with such aberrations are today widely used to model different aspects of leukemogenesis. Using cDNA microarrays, we determined the gene expression profiles of 40 cell lines as well as of primary leukemias harboring 11q23/MLL rearrangements, t(1;19)[TCF3/PBX1], t(12;21)[ETV6/RUNX1], t(8;21)[RUNX1/CBFA2T1], t(8;14) [IGH@/MYC], t(8;14)[TRA@/MYC], t(9;22)[BCR/ABL1], t(10;11) [PICALM/MLLT10], t(15;17)[PML/RARA], or inv(16)[CBFB/MYH11]. Unsupervised classification revealed that hematopoietic cell lines of diverse origin, but with the same primary genetic changes, segregated together, suggesting that pathogenetically important regulatory networks remain conserved despite numerous passages. Moreover, primary leukemias cosegregated with cell lines carrying identical genetic rearrangements, further supporting that critical regulatory pathways remain intact in hematopoietic cell lines. Transcriptional signatures correlating with clinical subtypes/primary genetic changes were identified and annotated based on their biological/molecular properties and chromosomal localization. Furthermore, the expression profile of tyrosine kinase-encoding genes was investigated, identifying several differentially expressed members, segregating with primary genetic changes, which may be targeted with tyrosine kinase inhibitors. The identified conserved signatures are likely to reflect regulatory networks of importance for the transforming abilities of the primary genetic changes and offer important pathogenetic insights as well as a number of targets for future rational drug design.
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| 9. |
- Andersson, Anna, et al.
(författare)
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Paired multiplex reverse-transcriptase polymerase chain reaction (PMRT-PCR) analysis as a rapid and accurate diagnostic tool for the detection of MLL fusion genes in hematologic malignancies
- 2001
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Ingår i: Leukemia. - 1476-5551. ; 15:8, s. 1293-1293
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Tidskriftsartikel (refereegranskat)abstract
- The MLL gene in chromosome band 11q23 is frequently rearranged in acute lymphoblastic and acute myeloid leukemias. To date, more than 50 different chromosomal regions are known to participate in translocations involving 11q23, many of which affect MLL. The pathogenetically important outcome of these rearrangements is most likely the creation of a fusion gene consisting of the 5' part of the MLL gene and the 3' end of the partner gene. Although abnormalities of the MLL gene as such are generally associated with poor survival, recent data suggest that the prognostic impact varies among the different fusion genes generated. Hence, detection of the specific chimeric gene produced is important for proper prognostication and clinical decision making. We have developed a paired multiplex reverse-transcriptase polymerase chain reaction analysis to facilitate a rapid and accurate detection of the most frequent MLL fusion genes in adult and childhood acute leukemias. To increase the specificity, two sets of primers were designed for each fusion gene, and these paired primer sets were run in parallel in two separate multiplex one-step PCR reactions. Using the described protocol, we were able to amplify successfully, in one single assay, the six clinically relevant fusion genes generated by the t(4;11)(q21;q23) [MLL/AF4], t(6;11)(q27;q23) [MLL/AF6], t(9;11)(p21-22;q23) [MLL/AF9], t(10;11)(p11-13;q23) [MLL/AF10], t(11;19)(q23;p13.1) [MLL/ELL], and t(11;19)(q23; p13.3) [MLL/ENL] in cell lines, as well as in patient material.
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| 10. |
- Andreasson, Patrik, et al.
(författare)
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BCR/ABL-negative chronic myeloid leukemia with ETV6/ABL fusion
- 1997
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Ingår i: Genes, Chromosomes and Cancer. - 1045-2257. ; 20:3, s. 299-304
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Tidskriftsartikel (refereegranskat)abstract
- A BCR/ABL-negative chronic myeloid leukemia (CML) with t(12;14) (p12;q11-13) as the sole chromosomal abnormality was investigated by fluorescence in situ hybridization (FISH), which disclosed a cryptic insertion of ETV6 (previously called TEL), located at 12p12, into ABL at chromosome band 9q34. ETV6/ABL fusion was confirmed by RT-PCR, revealing that the first five exons of ETV6 were fused in frame with ABL at exon 2. Wild-type ETV6 was expressed, in accordance with the FISH results showing no deletion of the second ETV6 allele. ETV6/ABL chimeric transcripts have previously been reported in acute leukemias, but never before in CML. The present case suggests that ETV6/ABL positivity may constitute a new genetic subgroup of BCR-negative CML.
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| 11. |
- Andreasson, Patrik, et al.
(författare)
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Cytogenetic and FISH studies of a single center consecutive series of 152 childhood acute lymphoblastic leukemias
- 2000
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Ingår i: European Journal of Haematology. - : Wiley. - 1600-0609 .- 0902-4441. ; 65:1, s. 40-51
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Tidskriftsartikel (refereegranskat)abstract
- Between 1977 and 1996, cytogenetic investigations were performed on 182 childhood (< or = 16 yr) acute lymphoblastic leukemias (ALL), constituting 94% (182 of 194) of all ALL patients diagnosed and treated at the Departments of Pediatrics, Lund and Malmo University Hospitals, Sweden, during these two decades. The cytogenetic analyses were successful in 152 cases (84%). The failure rate was higher for the ALL investigated before 1987 (30% vs. 4%, p < 0.0001), and also the incidence of cytogenetically normal cases was higher during 1977-86 (43% vs. 25%, p < 0.05). Clonal chromosomal abnormalities were found in 103 (68%) ALL. Structural rearrangements were detected, by chromosome banding alone, in 76 cases (50%). Fluorescence in situ hybridization (FISH) was used to identify cases with t(12;21), 11q23 rearrangements, and 9p deletions, using probes for ETV6/CBFA2, MLL, and CDKN2A/B, in 72 cases from which cells in fixative and/or unstained metaphase preparations were available. In total, the most common structural rearrangements were del(9p) (17%), t(12;21) (15%), del(6q) (8%), and MLL rearrangements (4%). Six (32%) of nineteen cytogenetically normal ALL analyzed by FISH harbored cryptic abnormalities; three displayed t(12;21) and four had del(9p), one of which also carried a t(12;21). Five (45%) of the t(12;21)-positive ALL showed +der(21)t(12;21) or ider(21)(q10)t(12;21), resulting in the formation of double fusion genes. Among the more rare aberrations, eight structural rearrangements were identified as novel recurrent ALL-associated abnormalities, and nine cases harbored rearrangements previously not reported. Sixteen cases displayed karyotypically unrelated clones at different investigations. Seven ALL (5%) showed simple chromosomal changes, unrelated to the aberrations detected at diagnosis, during morphologic and clinical remission, and in all but one instance the patients remained in remission, with the abnormal clone disappearing in subsequent investigations. This indicates that the emergence of novel clonal chromosomal aberrations during remission in childhood ALL is rather common and does not by necessity predict a forthcoming relapse.
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| 12. |
- Barbouti, Aikaterini, et al.
(författare)
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Clinical and genetic studies of ETV6/ABL1-positive chronic myeloid leukaemia in blast crisis treated with imatinib mesylate.
- 2003
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Ingår i: British Journal of Haematology. - : Wiley. - 0007-1048. ; 122:1, s. 85-93
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Tidskriftsartikel (refereegranskat)abstract
- Most chronic myeloid leukaemia (CML) patients are genetically characterized by the t(9;22)(q34;q11), generating the BCR/ABL1 fusion gene. However, a few CML patients with rearrangements of 9q34 and 12p13, leading to ETV6/ABL1 chimaeras, have also been reported. Here we describe the clinical and genetic response to imatinib mesylate treatment of an ETV6/ABL1-positive CML patient diagnosed in blast crisis (BC). A chronic phase was achieved after acute myeloid leukaemia induction therapy. Then, treatment with imatinib mesylate (600 mg/d) was initiated and the effect was assessed clinically as well as genetically, including by repeated interphase fluorescence in situ hybridization studies. Until d 71 of imatinib mesylate therapy, stable improvements in the clinical and laboratory features were noted, and the frequency of ABL1-rearranged peripheral blood cells decreased from 56% to 11%. At d 92, an additional t(12;13)(p12;q13), with the 12p breakpoint proximal to ETV6, was found. The patient relapsed into BC 126 d after the start of the imatinib mesylate treatment and succumbed to the disease shortly afterwards. No mutations in the tyrosine kinase domain of ABL1 of the ETV6/ABL1 fusion were identified in the second BC. However, whereas the ETV6/ABL1 expression was seemingly the same at diagnosis and at second BC, the expression of ETV6 was markedly lower at the second BC. This decreased expression of wild-type ETV6 may have been a contributory factor for the relapse.
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| 13. |
- Barbouti, Aikaterini, et al.
(författare)
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Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression.
- 2002
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257. ; 35:2, s. 127-137
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Tidskriftsartikel (refereegranskat)abstract
- During the initial indolent chronic phase of chronic myeloid leukemia (CML), the t(9;22)(q34;q11), resulting in the Philadelphia chromosome (Ph), is usually the sole cytogenetic anomaly, but as the disease progresses into the accelerated phase (AP), and eventually into aggressive blast crisis (BC), secondary aberrations, mainly unbalanced changes such as +8, i(17q), and +Ph, are frequent. To date, molecular genetic studies of CML BC have mainly focused on alterations of well-known tumor-suppressor genes (e.g., TP53, CDKN2A, and RB1) and oncogenes (e.g., RAS and MYC), whereas limited knowledge is available about the molecular genetic correlates of the unbalanced chromosomal abnormalities. Balanced secondary changes are rare in CML AP/BC, but it is not known whether cryptic chromosomal translocations, generating fusion genes, may be responsible for disease progression in a subgroup of CML. To address this issue, we used multicolor combined binary ratio fluorescence in situ hybridization (FISH), which allows the simultaneous visualization of all 24 chromosomes in different colors, verified by locus-specific FISH in a series of 33 CML cases. Two cryptic balanced translocations, t(7;17)(q32-34;q23) and t(7;17)(p15;q23), were found in two of the five cases showing the t(9;22) as the only cytogenetic change. Using several BAC clones, the breakpoints at 17q23 in both cases were mapped within a 350-kb region. In the case with the 7p15 breakpoint, a BAC clone containing the HOXA gene cluster displayed a split signal, suggesting a possible creation of a fusion gene involving a member of the HOXA family. Furthermore, one case with a partially cryptic t(9;11)(p21-22;q23) and an MLL rearrangement as well as a previously unreported t(3;10)(p22;p12-13) were identified. Altogether, a refined karyotypic description was achieved in 12 (36%) of the 33 investigated cases, illustrating the value of using multicolor FISH for identifying pathogenetically important aberrations in CML AP/BC.
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| 14. |
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| 15. |
- Bardi, G, et al.
(författare)
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Tumor karyotype predicts clinical outcome in colorectal cancer patients
- 2004
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Ingår i: Journal of Clinical Oncology. - 1527-7755. ; 22:13, s. 2623-2634
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To investigate the prognostic value of the overall karyotypic features and specific chromosome aberrations in colorectal cancer (CRC). Patients and Methods Cytogenetic features of 150 primary CRCs investigated at the time of surgery were correlated with patient survival by univariate and multivariate analyses, using classical clinicopathologic parameters as covariates. Results In univariate analysis, in addition to tumor grade and clinical stage, structural aberrations as well as rearrangements of chromosomes 8 and 16 were significantly correlated with shorter overall survival. Karyotypic complexity, rearrangements of chromosomes 8 and 16, and loss of chromosome 4 were significantly correlated with shorter disease-free survival. In multivariate analysis, in addition to tumor grade, the type of chromosome aberrations (structural or numerical), ploidy, and loss of chromosome 18 came across as independent prognostic factors in the group of all patients. In the subset of patients with stage I and II carcinomas, none of the clinicopathologic variables could independently predict patient survival, whereas the presence of structural chromosomal aberrations was the only independent predictor of poor prognosis. In the subset of patients with stage III carcinomas, the presence of structural changes of chromosome 8 was a stronger independent predictor of prognosis than was tumor grade. Conclusion Cytogenetic tumor features are valuable predictors of prognosis in CRC patients. The tumor karyotype should therefore be taken into account in the clinical management of patients with this disease, especially for patients having cancers of the early or intermediate stages I, II, and III.
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| 16. |
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| 17. |
- Berger, Roland, et al.
(författare)
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C-band heteromorphism in breast cancer patients
- 1985
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Ingår i: Cancer Genetics and Cytogenetics. - : Elsevier BV. - 0165-4608. ; 18:1, s. 37-42
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Tidskriftsartikel (refereegranskat)abstract
- The pattern of heteromorphism in the C-band-positive constitutive heterochromatin of human chromosomes #1, #9, and #16 was studied in peripheral lymphocytes of 54 breast cancer patients and 78 control individuals. The parameters of the heterochromatic regions analyzed were relative size, symmetry-asymmetry within homologous pairs, and prevalence of inversions. Significant differences between the two groups were found in C-band size of chromosomes #1, #9, and #16 and in incidence of inversions on chromosomes #1 and #9. Significant differences were noted between premenopausal and postmenopausal cancer patients in regard to inversions on chromosome #9 and between familial and sporadic patients in regard to C-band size on chromosome #16.
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| 18. |
- Billstrom, R., et al.
(författare)
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Acute myeloid leukemia with inv(16)(p13q22) : Involvement of cervical lymph nodes and tonsils is common and may be a negative prognostic sign
- 2002
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Ingår i: American Journal of Hematology. - : Wiley. - 0361-8609 .- 1096-8652. ; 71:1, s. 15-19
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Tidskriftsartikel (refereegranskat)abstract
- Acute myeloid leukemia (AML) with inv(16)(p13q22) or the variant t(16,16)(p13,q22), is strongly associated with the FAB subtype M4Eo. A high incidence of CNS involvement was reported in the 1980s, but otherwise little is known about the pattern of extamedullary leukemia (EML) manifestations in this AML type. We have compiled clinical and cytogenetic data on 27 consecutive AML cases with inv(16)/t(16,16) from southern Sweden. In general, these AMLs displayed the clinical features that have previously been described as characteristic for this disease entity: low median age, hyperleukocytosis, M4Eo morphology, and a favorable prognosis. However, CNS leukemia was only seen in relapse in one patient diagnosed in 1980, whereas the most common EML manifestation in our series was lymphadenopathy (5/27, 19%), most often cervical with or without gross tonsillar enlargement. A review of previously published, clinically informative cases corroborates that lymphadenopathy, with preference for the cervical region, is the most common EML at diagnosis in inv(16)-positive AML (58/175, 33%). CNS leukemia, on the other hand, has been reported in only 17% of the cases, mostly in the relapse setting, with a diminishing frequency over time, possibly due to protective effects of high-dose cytarabine. Other reported EML sites include the scalp, ovaries, and the intestine. Cervicotonsillar EML was in our series associated with a shorter duration of first remission, (P< 0.05), and may hence prove to be an important clinical parameter when deciding treatment strategies in AML with inv(16)/t(16,16). © 2002 Wiley-Liss, Inc.
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| 19. |
- Billstrom, R, et al.
(författare)
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Poor survival in t(8;21) (q22;q22)-associated acute myeloid leukaemia with leukocytosis
- 1997
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Ingår i: European Journal of Haematology. - 1600-0609. ; 59:1, s. 47-52
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Tidskriftsartikel (refereegranskat)abstract
- Twenty-nine consecutive cases with a t(8;21)(q22;q22) in the bone marrow (BM) karyotype were retrospectively studied concerning clinical, morphological and cytogenetic data. All had been diagnosed as acute myeloid leukaemia (AML), 27 FAB subtype M2 and two M1, comprising 5% of all cytogenetically analysed AML during 18 yr. Auer rods were the most consistent t(8;21)-associated morphological finding and were demonstrated in 92% of the reviewed BM specimens, whereas BM eosinophilia was seen in only 24%. The median age was 53 yr, and 30% of the patients were > 60 yr old. Twenty-four patients had received induction chemotherapy; 22 of these (91%) entered a complete remission (CR). The median survival time in treated patients was 18 months. Leukocytosis at diagnosis (> or = 20 x 10(9)/1) was significantly (p = 0.01) associated with shorter survival time. All four children are still in first CR after 9-80 months. Seven cases (25%) developed granulocytic sarcomas, discovered either at diagnosis (n = 4) or at first relapse (n = 3). Secondary chromosome abnormalities were found in 62% of the cases, most often loss of a sex chromosome. The presence of such secondary aberrations did not correlate with any morphological or clinical characteristics, including survival. This first Scandinavian study of AML with t(8;21) corroborates the previous findings that these AMLs are characterized by distinct morphological features, a high frequency of CR and a striking tendency to develop extramedullary leukaemic manifestations. Leukocytosis at diagnosis indicates a less favourable prognosis.
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| 20. |
- Björk, Jonas, et al.
(författare)
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Are occupational, hobby, or lifestyle exposures associated with Philadelphia chromosome positive chronic myeloid leukaemia?
- 2001
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Ingår i: Occupational and Environmental Medicine. - : BMJ. - 1470-7926 .- 1351-0711. ; 58:11, s. 722-727
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: To investigate a broad range of occupational, hobby, and lifestyle exposures, suggested as risk factors for Philadelphia chromosome positive (Ph+) chronic myeloid leukaemia (CML). METHODS: A case-control study, comprising 255 Ph+CML patients from southern Sweden and matched controls, was conducted. Individual data on work tasks, hobbies, and lifestyle exposures were obtained by telephone interviews. Occupational hygienists assessed occupational and hobby exposures for each subject individually. Also, occupational titles were obtained from national registries, and group level exposure-that is, the exposure proportion for each occupational title-was assessed with a job exposure matrix. The effects of 11 exposures using individual data and two exposures using group data (organic solvents and animal dust) were estimated. RESULTS: For the individual data on organic solvents, an effect was found for moderate or high intensity of exposure (odds ratio (OR) 3.4, 95% confidence interval (95% CI) 1.1 to 11) and for long duration (15-20 years) of exposure (OR 2.1, 95% CI 1.1 to 4.0). By contrast, the group data showed no association (OR 0.69, 95% CI 0.27 to 1.8; moderate or high intensity versus no exposure). For extremely low frequency electromagnetic fields (EMFs), only individual data were available. An association with long occupational exposure to EMFs was found (OR 2.3, 95% CI 1.2 to 4.5). However, no effect of EMF intensity was indicated. No significant effects of benzene, gasoline or diesel, or tobacco smoking were found. OR estimates below unity were suggested for personal use of hair dye and for agricultural exposures. CONCLUSIONS: Associations between exposure to organic solvents and EMFs, and Ph+CML were indicated but were not entirely consistent.
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| 21. |
- Borrow, Julian, et al.
(författare)
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Molecular analysis of simple variant translocations in acute promyelocytic leukemia
- 1994
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 9:4, s. 234-243
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Tidskriftsartikel (refereegranskat)abstract
- The primary cytogenetic abnormality in acute promyelocytic leukemia (APL; FAB M3) is a reciprocal translocation, t(15;17)(q22;q12), which serves to fuse the PML gene on chromosome 15 to the retinoic acid receptor alpha (RARA) gene on chromosome 17. A PML-RARA fusion message transcribed from the der(15) is thought to mediate leukemogenesis. Two APL patients with simple variants of this translocation, t(3;15)(q21;q22) and t(X;15)(p11;q22), have previously been reported who lack cytogenetic involvement of chromosome 17, although their breakpoint positions on chromosome 15 still suggest the involvement of the PML gene. Here we report on a combined analysis by molecular genetics and in situ hybridization of these two patients, in which we wanted to determine whether the PML gene has alternative fusion partners or whether cryptic rearrangement of the RARA locus has occurred instead. A cryptic involvement of RARA was demonstrated in both patients by a combination of Southern analysis, reverse transcription coupled to PCR (RT-PCR), and fluorescence in situ hybridization. The results indicate an absolute requirement for the rearrangement of the RARA gene in the pathogenesis of APL and underline the importance of RARA during normal myeloid differentiation.
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| 22. |
- Brandt, Lars, et al.
(författare)
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Relation between occupational exposure to organic solvents and chromosome aberrations in non‐Hodgkin's lymphoma
- 1989
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Ingår i: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 42:3, s. 298-302
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Tidskriftsartikel (refereegranskat)abstract
- Chromosome analysis of lymphoma cells was performed in 54 untreated patients with non‐Hodgkin's lymphoma (NHL). 10 patients had a history of daily occupational handling of organic solvents for at least 1 year (exposed group) and 44 patients had never (or only for shorter periods) worked with solvents (unexposed group). There were no differences between exposed and unexposed patients regarding age, clinical stage or histologic malignancy grade. The patients were assigned to three categories: Patients with 0–4, 5–9, or ≥ 10 cytogenetic events producing clonal aberrations of the lymphoma cells. The proportions of exposed patients in these categories were 2/26 (8%), 5/20 (25%) and 3/8 (38%); respectively, i.e. with increasing numbers of events there was an increasing probability of previous exposure to solvents (p = 0.035; trend analysis). 5 of 7 exposed patients (71%) with intermediate or high‐grade lymphomas displayed translocations involving the band 14q32. Such 14q+ markers were found in only 5 out of 28 unexposed patients (18%) with lymphomas of comparable malignancy grade (p = 0.01). Among unexposed patients with intermediate or high‐grade lymphoma the most common clonal aberration was 6q‐ which occurred in 10 out of 28 patients (36%). This abnormality was not observed in the exposed patients with lymphomas of corresponding malignancy grades (p = 0.08). It thus appears that the number of clonal chromosome aberrations is especially large in NHL patients with a history of occupational exposure to organic solvents. Moreover, such exposure may be associated with characteristic cytogenetic changes in the lymphoma cells.
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| 23. |
- Bruford, Elspeth A., et al.
(författare)
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HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions
- 2021
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Ingår i: Leukemia. - : Springer Science and Business Media LLC. - 0887-6924 .- 1476-5551. ; 35:11, s. 3040-3043
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Tidskriftsartikel (refereegranskat)abstract
- Gene fusions have been discussed in the scientific literature since they were first detected in cancer cells in the early 1980s. There is currently no standardized way to denote the genes involved in fusions, but in the majority of publications the gene symbols in question are listed either separated by a hyphen (-) or by a forward slash (/). Both types of designation suffer from important shortcomings. HGNC has worked with the scientific community to determine a new, instantly recognizable and unique separator—a double colon (::)—to be used in the description of fusion genes, and advocates its usage in all databases and articles describing gene fusions.
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| 24. |
- Bullerdiek, Jörn, et al.
(författare)
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Tumors of endocrine glands
- 2015. - 4th
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Ingår i: Cancer Cytogenetics : Chromosomal and Molecular Genetic Aberrations of Tumor Cells - Chromosomal and Molecular Genetic Aberrations of Tumor Cells. - Chichester, UK : John Wiley & Sons, Ltd. - 9781118795538 - 9781118795569 ; , s. 497-514
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Bokkapitel (refereegranskat)abstract
- Cytogenetic information is available on roughly 600 neoplasms originating from the thyroid, parathyroid, pituitary, and adrenal glands; from the thymus; and from the endocrine pancreas. Trisomy 7 is found in 30% of adenomas with clonal cytogenetic aberrations. In both the benign and malignant tumors, a combination of gains of or from chromosomes 5, 7, 12, 17, 19, and 20 was observed. Almost all pituitary tumors arise from the adenohypophysis and are benign adenomas; carcinomas are very rare. The clinical heterogeneity of Neuroblastoma (NB) is well reflected by its cytogenetic and genomic features. Clonal chromosome abnormalities were reported in adrenocortical adenomas. Chromosome banding studies have detected cytogenetic aberrations in adrenocortical carcinomas. Clonal chromosome abnormalities have been reported in several thymomas, usually as part of near-diploid karyotypes as well as in a few thymic carcinomas. The use of comparative genomic hybridization (CGH)-based techniques may improve thymoma subtyping.
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| 25. |
- Callen, David F, et al.
(författare)
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New chromosomal rearrangement, t(12;22)(p13;q12), in acute nonlymphocytic leukemia
- 1991
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Ingår i: Cancer Genetics and Cytogenetics. - 0165-4608. ; 51:2, s. 255-258
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Tidskriftsartikel (refereegranskat)abstract
- The karyotype 47,XX, + 8,t(12;22)(p13;q12) was found at diagnosis in two patients with acute nonlymphocytic leukemia (ANLL). The bone marrow morphology of both patients corresponded to the M4 subtype of the French-American-British (FAB) classification. The translocation t(12;22) has not previously been reported as the sole structural aberration in ANLL.
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