| 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. |
- Kullendorff, Carl-Magnus, et al.
(författare)
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Cytogenetic aberrations in Ewing sarcoma: are secondary changes associated with clinical outcome?
- 1999
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Ingår i: Medical and Pediatric Oncology. - 1096-911X. ; 32:2, s. 79-83
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Ewing sarcoma is associated with a nonrandom pattern of primary and secondary chromosomal aberrations. Whereas the finding of rearrangements of chromosome 22, usually in the form of a balanced translocation t(11;22)(q24;q12), is important diagnostically, nothing is known about the potential prognostic impact of the secondary chromosomal aberrations. PROCEDURE: During a 1 3-year-period, short-term cultured tumor samples from 21 children and young adults with Ewing sarcoma were cytogenetically analyzed successfully. RESULTS: Clonal chromosome aberrations were detected in 18 patients, 17 of whom had the characteristic t(11;22)(q24;q12) or variants thereof. The most frequent secondary change was +8, followed by +12, +2, +5, +9, +15, and gain of material from the long and short arms of chromosome 1. The only recurrent secondary change that was restricted to tumors from the ten patients that were dead at latest follow-up was gain of 1q material. Furthermore, all three patients with tumors with chromosome numbers over 50 had died, and the only patient with a tumor karyotype lacking chromosome 22 rearrangement was alive without evidence of disease. CONCLUSIONS: These data and previously published results indicate that the karyotypic pattern not only may be of diagnostic significance but also may be important prognostically.
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| 7. |
- Mertens, Fredrik, et al.
(författare)
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Successful treatment of a child with t(15;19)-positive tumor.
- 2007
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Ingår i: Pediatric Blood & Cancer. - : Wiley. - 1545-5017 .- 1545-5009. ; 49, s. 1015-1017
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Tidskriftsartikel (refereegranskat)abstract
- A subset of poorly differentiated carcinomas is characterized by the translocation t(15;19)(q13;p13), resulting in a BRD4/NUT fusion gene. Typically, this tumor affects children or young adults, with a predilection for midline head and neck or thoracic structures. The clinical course is invariably fatal, in spite of intensive chemotherapy and radiotherapy. We here present the successful treatment of a 10-year-old boy who presented with a BRD4/NUT-positive undifferentiated tumor in the iliac bone. The patient was selected for combined modality therapy, and has remained in complete continuous remission for close to 13 years. The findings show that t(15;19)-BRD4/NUT-positive tumors may arise in locations more typical for other pediatric tumors, such as Ewing sarcoma, and that they not always display epithelial differentiation. More importantly, our results also demonstrate that at least some patients with t(15;19)-positive tumors may be successfully treated.
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| 8. |
- Walther, Charles, et al.
(författare)
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Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants
- 2013
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Ingår i: Cancer Genetics. - : Elsevier BV. - 2210-7762. ; 206:7-8, s. 299-303
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Tidskriftsartikel (refereegranskat)abstract
- Soft tissue tumors in children under one year of age (infants) are rare. The etiology is usually unknown, with external factors or congenital birth defects and hereditary syndromes being recognized in only a small proportion of the cases. We ascertained the cytogenetic findings in 16 infants from whom tumor tissue had been obtained during a 25-year period. In eight of them, single nucleotide polymorphism (SNP) array analyses could also be performed. No constitutional chromosome aberrations were detected, and assessment of clinical files did not reveal any congenital or later anatomical defects. Three tumors--one infantile fibrosarcoma, one embryonal rhabdomyosarcoma, and one angiomatoid fibrous histiocytoma (AFH)--had abnormal karyotypes. As the AFH had an exchange between chromosome arms 12p and 15q, additional fluorescence in situ hybridization and reverse transcription-polymerase chain reaction analyses were performed, unexpectedly revealing an ETV6/NTRK3 fusion. Three of the eight tumors, including the AFH with an abnormal karyotype, analyzed by SNP array showed aberrations (loss of heterozygosity or imbalances). The present series suggests that the addition of array-based technologies is valuable for detecting underlying pathogenetic mechanisms.
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