[Diagnosis of cystic fibrosis by means of genetic technology--guidelines from an expert meeting].
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Cystic Fibrosis↗
Biomedical subjects
U Kristoffersson
Publications and source records attributed to U Kristoffersson.
Cytogenetic findings in acute megakaryoblastic leukemia (ANLL-M7).
The clinical, morphologic, and cytogenetic findings in a patient with acute megakaryoblastic leukemia (ANLL-M7) are described. At the time of diagnosis, the karyotype contained three related clones: 47,XY,t(3;6)(p13;q27), +8,t(12;22)(p13;q12), +15, -21, -22, +der(22)t(21;22)(q11;p13)/47,XY, +8,del(9)(q22),t(12;22), +15, -21, -22, +der(22)/46,XY, +8, t(12;22), -21, -22, +der(22). Complete remission was achieved with intensive combination chemotherapy. At relapse 20 months later, there was clear evidence of clonal evolution, and the karyotype was now 45,XY,t(2;18)(q33;p11),del(9)(q22),t(12;22)(p13;q12), -16, +der(16)t(8;16)(q13;p13), -21, -22, +der(22)t(21;22)(q11;p13)/46,XY,t(2;18),del(9),t(12;22), -16, +der(16), -21, -22, +der(22), +mar. A comparison with the few previously cytogenetically analyzed cases of ANLL-M7 reveals that structural rearrangements of chromosomes 21 and 22 might be of primary importance in the pathogenesis of acute megakaryoblastic leukemia.
Adult↗
An improved technique for short-term culturing of human prostatic adenocarcinoma tissue for cytogenetic analysis.
An improved technique for cytogenetic analysis of malignant prostatic tissue is described. This method is based on 1) prolonged mild collagenase treatment, 2) careful washing and repeated centrifugation and sedimentation of the disaggregated material to isolate viable prostatic epithelial cells, 3) short-term culture on collagen R-coated chamber slides with PFMR-4 medium supplemented with mitogenic factors, and 4) daily inspection of the cultured cells to determine the optimal time for harvesting. Twenty consecutive primary prostatic adenocarcinomas were cultured and processed for cytogenetic analysis. Outgrowth of pure epithelial colonies was obtained in 16 cases; in three there was a mixture of epithelial colonies and fibroblasts, and in one there was no cell growth. More than 25 metaphases with chromosomes of high banding quality could be analyzed per case, in particular in cultures from the final pellet fraction. Clonal chromosome aberrations were present in four tumors, and nonclonal structural changes were present in nine. Six tumors showed only normal diploid karyotypes.
Adenocarcinoma↗
CD30-positive large cell lymphomas ('Ki-1 lymphoma') are associated with a chromosomal translocation involving 5q35.
A chromosomal translocation involving a breakpoint on the long arm of chromosome 5 at position q35 has been reported previously in 17 cases of neoplasia. In 14 of these cases the translocation involves exchange of material between chromosome 2 p23 and chromosome 5. Most cases had been diagnosed histologically as malignant histiocytosis but it was suggested recently, following the study of three cases in one of the author's laboratories, that such tumours are in reality lymphoid tumours. In the present paper we report on 12 further neoplasms with a translocation involving the 5q35 breakpoint and show that all were large cell lymphomas expressing the CD30 (Ki-1) antigen, often classifiable histologically as 'Ki-1 lymphoma'. In five cases there was evidence, based on antigen expression and/or genotypic studies, that the neoplasm was of T lymphoid derivation. These findings provide further evidence that translocations involving 5q35 are associated not with histiocytic malignancy, but with large cell lymphoid neoplasms, including typical cases of 'Ki-1 lymphoma' or 'anaplastic large cell lymphoma'. Since cell lines have been established from five of these cases it may be possible in the future to clone the breakpoint on chromosome 5 and to investigate whether there is a gene in its vicinity with oncogenic potential.
Adult↗
Bone marrow karyotypes in 94 children with acute leukemia.
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.
Adolescent↗
Deletion of 14q in non-Hodgkin's lymphoma.
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 less than 0.001).
Aged↗
Structural chromosomal abnormalities of 3q in myelodysplastic syndrome/acute myeloid leukaemia with Sweet's syndrome.
Structural rearrangements in the long arm of chromosome 3, del(3)(q12q25) and t(3;5)(q21-25;q31-33), were observed in bone marrow cells from 2 patients with myeloid neoplastic disorders (myelodysplastic syndrome and acute myeloid leukaemia) and acute febrile neutrophil dermatosis (Sweet's syndrome). 3 of the 4 patients with leukaemia-associated Sweet's syndrome and acquired chromosome abnormalities known from the literature also had 3q changes, in 2 involving band 3q21.
Bone Marrow↗
Trisomy 7, trisomy 10, and loss of the Y chromosome in short-term cultures of normal kidney tissue.
Numerical chromosome aberrations are common in several types of malignant tumors. Recently, trisomy 7 and loss of the Y chromosome were described in cultures from nonneoplastic tissue, making the significance of these aberrations as cancer-associated changes doubtful. We herein report the mosaic occurrence of trisomy 7 in four consecutive short-term cultures initiated from normal kidney tissue. Smaller clones with trisomy 10 were present in three cases, and the only culture established from a male also showed mosaic loss of the Y chromosome.
Adult↗
Remarkably long survival of a patient with Ph1-positive chronic myeloid leukemia and 5' bcr rearrangement.
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.
Adult↗
Trisomy 14 in atypical chronic myeloid leukemia.
Trisomy 14 was the sole karyotypic anomaly in three patients with Ph1-negative chronic myeloid leukemia, and the only abnormality in one of three clones in a fourth case. The hematologic features were partly myeloproliferative, partly myelodysplastic, and included myeloid hyperplasia, neutrophilia without basophilia, a relatively high number of immature granulocyte precursors in the peripheral blood, and monocytosis in three and dysgranulopoiesis in two of the patients. These data, in combination with the patients' high age at diagnosis, their short survival, and the lack of rearrangements of the major breakpoint cluster region (M-bcr) in the two cases where cells were available for molecular analysis, indicate that all four patients suffered from atypical chronic myeloid leukemia (aCML). We suggest that trisomy 14 may be a characteristic karyotypic abnormality in this hematologic disorder.
Aged↗
[Risk of miscarriage after chorionic biopsy is probably not higher than after amniocentesis].
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Abortion, Spontaneous↗
No correlation between hyperthermia during pregnancy and Hirschsprung disease in the offspring.
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Female↗
Multiple clonal chromosome aberrations in two thymomas.
Cytogenetic investigations of two thymomas of different histopathology revealed unrelated clonal karyotypic changes: 44,XY,+X,inv(2)(p25q13),del(6)(q15),-8,-16,-17 in a cortical thymoma, and 48-49,XX,+del(X)(q24),+i(5p),+?del(7)(q22),der(11)t(1;11)(q23;q25),t(11; ?)(p15;?),-18,+r in a mixed-type thymoma. These are the first thymic tumors of epithelial origin that have been investigated with banding technique.
Aged↗
Double minutes in two primary adenocarcinomas of the prostate.
Double minute chromosomes were found in metaphases from short-term tissue cultures of two primary prostatic adenocarcinomas. This is the first cytogenetic evidence of gene amplification in this tumor type.
Adenocarcinoma↗
A squamous cell bladder carcinoma with karyotypic abnormalities reminiscent of transitional cell carcinoma.
A squamous cell carcinoma was investigated cytogenetically by means of chromosome banding. The karyotype was complex with many structural and numerical changes, including -9 and del(11p), aberrations that also have been noted in transitional cell carcinoma. Thus, cytogenetic studies may be an important complement to the histological classification of bladder tumors, and may even contribute to our understanding of the etiology and pathogenesis of the 2 main types of bladder cancer.
Aged↗
Relation between occupational exposure to organic solvents and chromosome aberrations in non-Hodgkin's lymphoma.
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 greater than or equal to 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.
Adult↗
Constitutional C-band polymorphism in lymphocytes from patients with chronic myeloid leukemia.
The C-band heterochromatin polymorphism of chromosomes 1, 9, and 16 was studied in lymphocytes from 53 patients with Ph1-positive chronic myeloid leukemia (CML) and 183 control persons. The patients had significantly larger heterochromatic blocks on chromosome 16 (p less than 0.01) and fewer partial inversions of chromosome 9 (p less than 0.05) than the control persons, whereas no differences were found for the symmetry/asymmetry pattern. We suggest that the increased constitutive heterochromatin regions may, via sister chromosome exchange, facilitate homo- or hemizygotization of genes which favor neoplasia development and/or progression.
Chromosome Aberrations↗
No abnormal C-band polymorphism in lung cancer patients.
The C-band heterochromatin polymorphism of chromosomes 1, 9, and 16 was studied in lymphocytes from 52 lung cancer patients and 183 control persons. No significant differences between the controls and patients were found regarding heterochromatin block size, the frequency of partial and total inversions, or the symmetry/asymmetry pattern.
Chromosome Banding↗