| 41. |
- 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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| 42. |
- Appelquist, Karin, 1979, et al.
(författare)
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Character and origin of variably deformed granitoids in central southern Sweden: implications from geochemistry and Nd isotopes
- 2011
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Ingår i: Geological Journal. - : Wiley. ; 46:6, s. 597-618
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Tidskriftsartikel (refereegranskat)abstract
- We present major and trace element data for eighteen 1.71–1.66 Ga granitoid samples, and Sm–Nd whole‐rock isotope data for eleven of these samples, in a transect across the border between the Transscandinavian Igneous Belt (TIB) and the Eastern Segment in central southern Sweden. The geochemistry of the granitoids varies from alkalic to alkali‐calcic and peraluminous in the east to predominantly calc‐alkaline and metaluminous in the west. Rocks in the west also have lower SiO2 contents. Trace element signatures favour formation in an active continental margin setting. Nd isotope data are completely overlapping along the transect and initial εNd values are mildly depleted in the range +0.3 to +2.6. The combined data suggest that the magmas were derived mainly from juvenile, pre‐existing crust, increasingly mafic and less alkaline towards the west.
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| 43. |
- Avdic, Daniel, et al.
(författare)
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Sex differences in sickness absence and the morbidity-mortality paradox : a longitudinal study using Swedish administrative registers
- 2019
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Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 9:8
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Tidskriftsartikel (refereegranskat)abstract
- Objective To analyse whether gender-specific health behaviour can be an explanation for why women outlive men, while having worse morbidity outcomes, known as the morbidity-mortality or gender paradox. Setting The working population in Sweden. Participants Thirty per cent random sample of Swedish women and men aged 40-59 with a hospital admission in the 1993-2004 period were included. The sample for analysis consists of 233274 individuals (115430 men and 117844 women) and in total 1 867013 observations on sickness absence. Intervention Hospital admission across 18 disease categories. Main outcome measures The main outcome measures were sickness absence (morbidity) and mortality. Longitudinal data at the individual level allow us to study how sickness absence changed after a hospital admission in men and women using a difference-in-differences regression analysis. Cox regression models are used to study differences in mortality after the admission. Results Women increased their sickness absence after a hospital admission by around five more days per year than men (95% CI 5.25 to 6.22). At the same time, men had higher mortality in the 18 diagnosis categories analysed. The pattern of more sickness absence in women was the same across 17 different diagnosis categories. For neoplasm, with a 57% higher risk of death for men (54.18%-59.89%), the results depended on the imputation method of sickness for those deceased. By using the premortality means of sickness absence, men had an additional 14.47 (-16.30- -12.64) days of absence, but with zero imputation women had an additional 1.6 days of absence (0.05-3.20). Analyses with or without covariates revealed a coherent picture. Conclusions The pattern of increased sickness absence (morbidity) and lower mortality in women provides evidence on the more proactive and preventive behaviour of women than of men, which could thus explain the morbidity-mortality paradox.
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| 44. |
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| 45. |
- 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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| 46. |
- 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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| 47. |
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| 48. |
- 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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| 49. |
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| 50. |
- Berg, Stig, et al.
(författare)
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Åldrandets biologi
- 1980
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Bok (övrigt vetenskapligt/konstnärligt)
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