| 1. |
- Heim, Sverre, et al.
(författare)
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A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia
- 1987
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Ingår i: British Journal of Haematology. - 0007-1048. ; 66:3, s. 323-326
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Tidskriftsartikel (refereegranskat)abstract
- The translocation t(8;16) (p11;p13) was found as the sole deviation from the normal karyotype in three patients with acute monocytic leukaemia. The bone marrow morphology was strikingly similar in the two cases where smears were available for re-evaluation: the leukaemic cells showed signs of differentiation, and active erythrophagocytosis was a particularly conspicuous feature. We suggest that t(8;16) (p11;p13) represents a new consistent abnormality in acute monocytic leukaemia, specifically associated with the differentiated subtype (M5b) and with pronounced phagocytic activity by the leukaemic monocytes.
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| 2. |
- Heim, Sverre, et al.
(författare)
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Bone marrow karyotypes in 94 children with acute leukemia
- 1990
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Ingår i: European Journal of Haematology. - 1600-0609. ; 44:4, s. 227-233
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Tidskriftsartikel (refereegranskat)abstract
- During the last 10 years, we have cytogenetically analyzed at diagnosis bone marrow cells from a total of 94 children with acute leukemia. Of the 78 children with acute lymphatic leukemia (ALL), 53 (68%) had clonal acquired chromosome abnormalities; in the group with acute nonlymphatic leukemia (ANLL), the corresponding proportion was 13 out of 16 (81%). Among the cytogenetically abnormal ALL patients, the most numerous subset was the hyperdiploid cases with stemlines containing 51 or more chromosomes (26 of 53 abnormal cases; 49%). This is a clearly higher proportion than has been reported in large series from other centers. Deletions of 6q were present in 8 cases and rearrangements of 12p in 5. Of the 7 T-cell ALLs, 3 had translocations of the distal part of 7q, i.e., of the region where the beta T-cell receptor is encoded. Only 2 of 26 (8%) patients with leukemic stemlines with more than 50 chromosomes have relapsed; the remainder are still in first remission (mean observation time 42 months). This may be contrasted with 6 of 25 (24%) relapses among the cytogenetically normal (observation time 41 months), and 8 of 27 (30%) relapses among ALL patients with aberrations but with less than 51 chromosomes (observation time 26 months). Our results support the conclusion that the finding of a markedly hyperdiploid leukemia karyotype is indicative of good prognosis in ALL.
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| 3. |
- Heim, Sverre, et al.
(författare)
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High resolution banding analysis of the reciprocal translocation t(6;9) in acute nonlymphocytic leukemia
- 1986
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Ingår i: Cancer Genetics and Cytogenetics. - 0165-4608. ; 22:3, s. 195-201
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Tidskriftsartikel (refereegranskat)abstract
- The cytogenetic, hematologic, and clinical characteristics of a 13-year-old girl with acquired t(6;9)(p23;q34) and dysmyelopoietic syndrome developing into acute myelomonocytic leukemia are described, bringing the total number of patients with t(6;9) and hematologic disease described in the literature up to 19. The diagnosis has been acute myeloid leukemia in the great majority of these patients; only four have had acute myelomonocytic leukemia. High resolution analysis at the 550 band stage localized the breakpoints in chromosomes #6 and #9 to p23 and 9q34.3, respectively. Previous investigations employing high resolution cytogenetics have mapped the typical 9q breakage site in chronic myeloid leukemia to 9q34.1. In situ hybridization studies have demonstrated that the cellular oncogene c-abl remains on the derivative 9q+ chromosome in t(6;9), whereas it is moved to the Ph marker in t(9;22). Thus, the combined data indicate that c-abl is located between 9q34.1 and 9q34.3, i.e., in subband 9q34.2 or its immediate vicinity.
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| 4. |
- Heim, Sverre, et al.
(författare)
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New structural chromosomal rearrangements in congenital leukemia
- 1987
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Ingår i: Leukemia. - 1476-5551. ; 1:1, s. 16-23
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Tidskriftsartikel (refereegranskat)abstract
- The karyotypic abnormalities and clinical data on three patients in whom acute leukemia was diagnosed within the first 6 months of life are presented. The four structural chromosomal rearrangements detected in the bone marrow from these patients, i.e., t(7;12)(q36;p13) and t(1;19)(q11;q11) in case 1, t(2;10;11;12)(q21q31;p13;q13;q24) in case 2, and t(11;19)(q23;p13) in case 3, have not previously been associated with congenital leukemia. Acquired chromosomal changes have until now been reported in only 31 leukemic infants in this age group. Of the total material, 18 patients had acute lymphoblastic leukemia and 16 had acute nonlymphocytic leukemia. The by far most frequently recorded cytogenetic aberration has been t(4q;11q), seen in 14 cases of lymphoblastic leukemia. Although t(4q;11q) has not been found in a single patient with acute nonlymphocytic leukemia, these leukemias have often had other rearrangements involving the same region of 11q. Hence, genetic material around 4q21 may be active in lymphocytic differentiation, whereas gene(s) in 11q23 may be important in the neoplastic process in a less cell-type specific manner and perhaps particularly vulnerable to neoplastic rearrangement in fetal life. The finding of four cases out of 34 with translocations between 11q23 and chromosome 19 indicates that this rearrangement might characterize a specific cytogenetic subgroup of leukemia in the very young.
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| 5. |
- Heim, Sverre, et al.
(författare)
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Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia
- 1986
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Ingår i: Cancer Genetics and Cytogenetics. - : Elsevier BV. - 0165-4608. ; 23:3, s. 239-244
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Tidskriftsartikel (refereegranskat)abstract
- The cytogenetic, clinical, and immunologic findings ina 4-month-old girl with acute lymphoblastic leukemia (ALL) are reported. The malignant lymphoblasts were characterized cytogenetically by the reciprocal translocation t(11;19)(q23;p13); immunologically by an immature pre-B-ALL phenotype. In spite of the high-risk nature of the leukemia, the patient attained complete remission relatively quickly and is still free of disease 3 years after diagnosis. Because the only two previously reported ALL patients with t(11;19) also seem to have responded well to therapy, this cytogenetic abnormality might turn out to be an indicator of favorable prognosis in ALL.
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| 6. |
- Magnusson, Susanne, et al.
(författare)
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Higher occurrence of childhood cancer in families with germline mutations in BRCA2, MMR and CDKN2A genes.
- 2008
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Ingår i: Familial Cancer. - : Springer Science and Business Media LLC. - 1389-9600 .- 1573-7292. ; 7, s. 331-337
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Tidskriftsartikel (refereegranskat)abstract
- The contribution of hereditary factors for development of childhood tumors is limited to some few known syndromes associated with predominance of tumors in childhood. Occurrence of childhood tumors in hereditary cancer syndromes such as BRCA1/2 associated breast and ovarian cancer, DNA-mismatch repair (MMR) genes associated hereditary non polyposis colorectal cancer and CDKN2A associated familial malignant melanoma are very little studied. Herein we report the prevalence of childhood tumors (diagnosed
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| 7. |
- Magnusson, Susanne, et al.
(författare)
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Increased incidence of childhood, prostate and breast cancers in relatives of childhood cancer patients.
- 2012
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Ingår i: Familial Cancer. - : Springer Science and Business Media LLC. - 1389-9600 .- 1573-7292. ; 11, s. 145-155
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Tidskriftsartikel (refereegranskat)abstract
- Whether cancer predisposing familial factors are associated with childhood tumors is unclear. The purpose was to study the incidence of childhood and adult tumors in extended families of children with cancer. Family history of cancer was obtained through questionnaires, and the Swedish Population-, and Cancer Registries for 194 childhood cancer patients aged ≤18 years, diagnosed 1972-2009. Standardized cancer incidence ratios (SIR), and 95% confidence intervals (CI) were estimated and compared with expected rates. Overall, 21 of the 194 patients had any relative with a childhood tumor. When restricted to first- to third degree relatives, increased incidences of childhood (SIR: 2.5; 95% CI: 1.3-4.4) and adult tumors (SIR: 1.5; 95% CI: 1.3-1.7), especially in the prostate (SIR: 2.7; 95% CI: 1.9-3.8) and breast (SIR: 1.7; 95% CI: 1.2-2.4) were observed. Prostate and breast cancers were observed at earlier than average ages. No TP53 mutations or known cancer predisposing syndromes were found in families with multiple childhood tumors. Familial factors may increase the risk for childhood cancer and modify the age of onset of common adult tumors. Studying extended families with multiple childhood tumors may be a valuable approach to understanding the etiology of childhood tumors.
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| 8. |
- Magnusson, Susanne, et al.
(författare)
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Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population-based survey.
- 2012
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Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5017 .- 1545-5009. ; 59:5, s. 846-853
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Whether childhood adrenocortical tumors (ACTs), choroid plexus tumors (CPTs), and rhabdomyosarcoma (RMS) are early manifestation of Li-Fraumeni syndrome (LFS) is uncertain. In this study, we evaluated the frequency of germline TP53 mutations and family history in a population-based series of patients. PATIENTS AND METHODS: We identified children (≤18 years) diagnosed between 1958 and 2008 with ACT (n = 3) or CPT (n = 7), or children ≤5 years with RMS (n = 29). Registry-based pedigree expansion was performed. RESULTS: No patients had a family history of classic LFS but 17 fulfilled Chompret or Eeles criteria. TP53 mutations were found in 1/3 ACT patients and 1/18 RMS patients; both were novel mutations. Of five tested CPT patients none had a detectable mutation. No excess of LFS associated tumors was observed, except for breast cancer in families of CPT patients. An overall increased cancer incidence was observed in families of patients with CPT [standardized incidence ratio (SIR) = 2.0; 95% CI: 1.1-3.5] due to excess of breast and female kidney cancer and in families of patients with RMS (SIR = 1.2; 95% CI: 0.9-1.7), due to excess of early-onset melanoma and male stomach cancer. CONCLUSION: Relatives of patients with childhood ACTs, CPTs, and RMSs showed no increased risk of LFS associated tumors. However, TP53 mutations could be found in these children irrespective of family history. Absence of LFS associated tumors may suggest the presence of other cancer syndromes. Improved knowledge about relatives' cancer risks could be helpful in counseling family members of children with cancer. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc.
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| 9. |
- Stjernfelt, Karl-Johan, et al.
(författare)
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Increased cancer risk in families with pediatric cancer is associated with gender, age, diagnosis, and degree of relation to the child
- 2020
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Ingår i: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. - 1538-7755. ; 29:11, s. 2171-2179
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Studies of cancer risk among relatives of children with cancer beyond parents and siblings are limited. We have investigated the cancer risk up to the third degree of relation in families with pediatric cancer to reveal patterns of inheritance.METHODS: A single-center cohort of 757 pediatric cancer patients was linked to the Swedish National Population Register, resulting in 16 137 relatives up to the third degree of relation. All relatives were matched to the Swedish Cancer Register and standard incidence ratios (SIRs) were calculated to define relatives at risk.RESULTS: Children and adults up to the third degree of relation had increased cancer risk, with SIRs of 1.48 (P=0.01) and 1.07 (P<0.01), respectively. The SIRs for first- and third-degree adult relatives were 1.22 and 1.10, respectively, but no increased risk was observed in second-degree relatives. Male relatives had a higher risk than females, especially when related to a girl and when the child had leukemia. The risk was mainly increased for lung, prostate and gastrointestinal cancer. When excluding 29 families of children with known pathogenic germline variants, the increased risk remained.CONCLUSION: Relatives to children with cancer up to third degree of relation have an increased cancer risk. Known pathogenic germline variants do not explain this increased risk.IMPACT: The overall increased cancer risk among relatives of children with cancer in this population-based cohort strengthens the importance of surveillance programs for families with pediatric cancer.
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| 10. |
- von Stedingk, Kristoffer, et al.
(författare)
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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
- 2021
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Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 11:1
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Tidskriftsartikel (refereegranskat)abstract
- Up to 10% of pediatric cancer patients harbor pathogenic germline variants in one or more cancer susceptibility genes. A recent study from the US reported pathogenic variants in 22 out of 60 analyzed autosomal dominant cancer susceptibility genes, implicating 8.5% of pediatric cancer patients. Here we aimed to assess the prevalence of germline pathogenic variants in these 22 genes in a population-based Swedish cohort and to compare the results to those described in other populations. We found pathogenic variants in 10 of the 22 genes covering 3.8% of these patients. The prevalence of TP53 mutations was significantly lower than described in previous studies, which can largely be attributed to differences in tumor diagnosis distributions across the three cohorts. Matched family history for relatives allowed assessment of familial cancer incidence, however, no significant difference in cancer incidence was found in families of children carrying pathogenic variants compared to those who did not.
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