| 1. |
- Heim, Sverre, et al.
(author)
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A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia
- 1987
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In: British Journal of Haematology. - 0007-1048. ; 66:3, s. 323-326
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Journal article (peer-reviewed)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.
(author)
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Bone marrow karyotypes in 94 children with acute leukemia
- 1990
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In: European Journal of Haematology. - 1600-0609. ; 44:4, s. 227-233
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Journal article (peer-reviewed)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.
(author)
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High resolution banding analysis of the reciprocal translocation t(6;9) in acute nonlymphocytic leukemia
- 1986
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In: Cancer Genetics and Cytogenetics. - 0165-4608. ; 22:3, s. 195-201
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Journal article (peer-reviewed)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.
(author)
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New structural chromosomal rearrangements in congenital leukemia
- 1987
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In: Leukemia. - 1476-5551. ; 1:1, s. 16-23
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Journal article (peer-reviewed)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.
(author)
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Reciprocal translocation (11;19)(q23;p13) in congenital acute lymphoblastic leukemia
- 1986
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In: Cancer Genetics and Cytogenetics. - : Elsevier BV. - 0165-4608. ; 23:3, s. 239-244
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Journal article (peer-reviewed)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. |
- JOHANSSON, BERTIL, et al.
(author)
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Breakprone chromosome bands in fibroblasts from patients with non‐Hodgkin's lymphoma do not coincide with bands involved in primary rearrangements in non‐Hodgkin's lymphomas
- 1988
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In: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661. ; 109:1, s. 131-137
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Journal article (peer-reviewed)abstract
- The distribution of breakpoints in structural chromosome aberrations (chromatid and chromosome gaps, breaks, and exchanges) was studied in skin fibroblasts from 35 untreated patients with non‐Hodgkin's lymphoma (NHL) and 39 controls. A total of 227 aberrations in the NHL group and 260 in the control group could be assigned to specific chromosome bands. The distribution of breakpoints was nonrandom in both groups (p<0.001), with excessive breakage in 17 bands among the NHL patients and in 21 among the controls. Two of the hot spots in the NHL group (6q21,14q24) and three in the control group (2q33,6q21, 6q25) coincided with the 60 chromosome bands that are targets for primary chromosome abnormalities in NHL. We conclude that the chromosome bands involved in primary structural abnormalities in lymphoma cells are not constitutionally breakprone in NHL patients.
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| 7. |
- JOHANSSON, BERTIL, et al.
(author)
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Normal frequency of structural chromosome aberrations in fibroblasts from patients with non‐Hodgkin's lymphoma
- 1988
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In: Hereditas. - : Springer Science and Business Media LLC. - 0018-0661. ; 109:2, s. 277-280
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Journal article (peer-reviewed)abstract
- The incidence of chromosome aberrations, i.e., chromatid and chromosome gaps, breaks, and exchanges, was studied in cultured skin fibroblasts from 25 untreated patients with non‐Hodgkin's lymphoma (NHL) and 26 controls. The mean frequencies of aberrant cells, and gap, break, and gap+break events per 100 metaphases were 4.2, 1.9, 2.8, and 4.7 in the NHL group, and 5.1, 2.6, 3.2, and 5.8 in the control group. None of these parameters differed significantly between the groups, indicating that constitutional chromosomal instability is not related to the development of NHL. In the total material there was a significant (P<0.05) increase with age in the number of aberrant cells.
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| 8. |
- Johansson, Bertil, et al.
(author)
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Remarkably long survival of a patient with Ph1-positive chronic myeloid leukemia and 5' bcr rearrangement
- 1990
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In: Leukemia. - 1476-5551. ; 4:6, s. 448-449
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Journal article (peer-reviewed)abstract
- Chronic myeloid leukemia (CML) was diagnosed in a 19-year-old man in 1961, and the disease remained in chronic phase, with occasional exacerbations, for 27 years. In 1976, when the first cytogenetic analysis was performed, t(9;22)(q34;q11) was found as the sole abnormality in all mitoses. During accelerated phase in 1988, a second cytogenetic investigation showed the karyotype 45,XY,t(9;22)(q34;q11),-15,-17,+der(15) t(15;17)(p13;q11). Molecular analysis revealed a rearrangement in the 5' end of the major breakpoint cluster region (M-bcr). With the case presented here, sublocalization of the bcr breakpoint has now been undertaken in altogether five CML patients with extremely long survival. It is noteworthy that in all these cases the chromosome 22 breakpoint was located in the 5' region of the M-bcr.
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| 9. |
- KRISTOFFERSSON, ULF, et al.
(author)
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CYTOGENETIC STUDIES IN HODGKIN'S DISEASE
- 1987
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In: Acta Pathologica Microbiologica Scandinavica. Section A. Pathology. - 0108-0164. ; 95 A:1-6, s. 289-295
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Journal article (peer-reviewed)abstract
- Cytogenetic analysis was attempted in 20 patients with Hodgkin's disease. No mitoses were found in 2 cases, normal metaphases in 7, and normal metaphases with nonclonal aberrations in 7. Of the 4 cases with clonal aberrations, one had +16 as the sole change, whereas the remaining tumors had multiple numerical and structural changes.
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| 10. |
- Kristoffersson, Ulf, et al.
(author)
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Deletion of 14q in non‐Hodgkin's lymphoma
- 1990
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In: European Journal of Haematology. - : Wiley. - 0902-4441 .- 1600-0609. ; 44:4, s. 261-264
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Journal article (peer-reviewed)abstract
- Abstract: 6 patients with non‐Hodgkin's lymphoma [3 with small cell lymphocytic lymphoma of B‐cell type (SL), and 1 each with follicular centroblastic/centrocytic, centroblastic, and immunoblastic lymphoma] and with the acquired cytogenetic abnormalities del(14) (q22) or del(14) (q24) are described. An evaluation of these 6 cases and 41 other lymphatic neoplasms with 14q deletion known from the literature revealed that 37 had a breakpoint in bands q22 to q24. The deletions occur significantly more often in lymphomas of SL morphology and in the leukemic counterpart, chronic lymphocytic leukemia, than in other types of lymphatic malignancies (p< 0.001).
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