21/40. Marrow aplasia developing 3 years after treatment with busulphan for chronic myeloid leukaemia.A 31-year-old woman with philadelphia chromosome-positive chronic myeloid leukaemia (CML) was treated intermittently with high-dose busulphan over a 6-yr period (total dose 1320 mg). 3 yr later (after receiving no further cytotoxic drugs) she developed pancytopenia and marrow aplasia of relatively abrupt onset. Transfusion of reconstituted blood-derived stem cells (collected 7 yr previously) re-established chronic phase CML. These events are more consistent with 'stem cell exhaustion' than with an acquired marrow microenvironmental defect occurring in the course of CML. The contribution of busulphan is uncertain.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
22/40. The use of in situ hybridization for detection of loss of the y chromosome in males with pancytopenia.in situ hybridization for Y heterochromatin was used to detect loss of the y chromosome in interphase cells of three elderly male patients who presented with pancytopenia, hypocellular marrow with mild to moderate dysplasia, and variable numbers of 45,X, -Y or -G marrow metaphases. The percentages of Y-negative peripheral blood mononuclear cells from the patients (1.5-12.5%) exceeded that of elderly males (0.4 /- 0.3%) and young males (0.03 /- 0.1%) without hematologic disorders, but the percentages of Y-negative phytohemagglutinin-stimulated cells from the patients were within the range of normals. All three patients had Y-negative granulocytes (2.1-16.7%), while none of 34 males without hematologic disease had any Y-negative granulocytes. These results suggested the presence of a myeloid clone with loss of Y. One patient developed acute nonlymphocytic leukemia with 38.4% Y-negative marrow cells. Morphologically, the Y-negative cells were blasts. The other two patients remained stable or improved over the period of treatment and observation despite persistence of the cytogenetic finding and dysplastic changes. Loss of the y chromosome in excess of normal as determined by in situ hybridization may be an indicator of a clonal disorder in males with pancytopenia, but it is not necessarily a marker of poor prognosis.- - - - - - - - - - ranking = 6keywords = chromosome (Clic here for more details about this article) |
23/40. philadelphia chromosome in human multiple myeloma.Four patients with multiple myeloma in whom a Ph1 chromosome was found were described; 1 patient had a (9;22) translocation, 2 had no evidence of a translocation, and 1 had a complex translocation (3;8;22). Ph1 chromosomes with standard (9;22) or with unusual translocations were recently found in various myeloproliferative disorders (other than chronic myelogenous leukemia) and in acute lymphoblastic leukemia. These findings point to the genesis of a Ph1 chromosome in diseases other than chronic myelogenous leukemia and other myeloproliferative disorders.- - - - - - - - - - ranking = 7keywords = chromosome (Clic here for more details about this article) |
24/40. Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage?We report on a 12-yr-old female and a 14-yr-old male with Seckel syndrome. The 12-yr-old female had pancytopenia, which is seen occasionally in patients with Seckel syndrome and is also a feature of fanconi anemia, a well-recognized autosomal recessive dwarfism syndrome with chromosome instability. chromosome breakage analysis of both of our patients also indicated chromosome instability. We suggest that there may be a subgroup of Seckel syndrome patients with chromosome instability and/or hematological problems.- - - - - - - - - - ranking = 39.419213812566keywords = breakage, chromosome (Clic here for more details about this article) |
25/40. busulfan-induced sideroblastic anemia.patients in the stable phase of chronic myelogenous leukemia (CML) are usually treated with busulfan. The bone marrow of patients with CML may be exquisitely sensitive to busulfan, and occasionally such patients develop pancytopenia, secondary to hypoplasia or aplasia of the bone marrow, which is presumed to be due to busulfan-induced marrow toxicity. We report a case of philadelphia chromosome-positive CML who developed pancytopenia while being treated with busulfan; however, the patient's bone marrow was not hypoplastic or aplastic but rather hyperplastic with sideroblastic changes. busulfan is not known to cause sideroblastic changes, so this was considered to herald a transformation into acute leukemia. busulfan was stopped, and only supportive treatment was given. To our surprise approximately 22 weeks after busulfan was stopped, the sideroblastic changes had disappeared and the bone marrow again showed features of CML. This case suggests that busulfan may cause sideroblastic anemia.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
26/40. pancytopenia secondary to primary malignant lymphoma of bone marrow as the first hematologic manifestation of the Estren-Dameshek variant of Fanconi's anemia.We describe a 4-month-old girl with Estren-Dameshek variant of Fanconi's anemia (FA) presenting with a pancytopenia secondary to extranodal bone marrow malignant lymphoma as the first hematologic manifestation of the syndrome. Although she was phenotypically normal, her cultured lymphocytes showed an increased spontaneous chromosome breakage, which was enhanced by diepoxybutane (DEB). Cytogenetic studies showed that 7 of her 12 relatives, including both parents, were heterozygote carriers of the FA gene. This confirms the diagnosis of FA of the Estren-Dameshek variant. A complete hematologic remission was attained within 28 days, and she remained in continuous bone marrow remission till the age of 14.5 months, when she developed acute gastroenteritis and died. No unusual sensitivity to chemotherapy was experienced, though leukopenia and recurrent infections proved troublesome. FA has an incidence many times higher in the Orange Free State region of south africa than reported elsewhere in the world.- - - - - - - - - - ranking = 7.4838427625132keywords = breakage, chromosome (Clic here for more details about this article) |
27/40. Acute myelomonocytic leukemia (M-4 subtype) with abnormal marrow eosinophilia and a normal chromosome 16.A variety of chromosome 16 abnormalities, including inversion, deletion, and translocation in patients with acute myelomonocytic leukemia and abnormal marrow eosinophilia have been reported recently. The authors have identified an AMML patient who had a normal karyotype in 50 metaphases. In particular, chromosome 16 was closely examined for abnormality and was found to be entirely normal. In addition, the authors describe new cytochemical and ultrastructural features of the associated abnormal eosinophils.- - - - - - - - - - ranking = 6keywords = chromosome (Clic here for more details about this article) |
28/40. X-linked dyskeratosis congenita with pancytopenia.Two maternal male cousins in a Jewish Iraqi kindred were affected with dyskeratosis congenita and had a megaloblastic bone marrow. One cousin had pancytopenia and the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a beta-thalassemia trait. The following genetic "markers" of the x chromosome were studied: G6PD, the X-linked blood groups Xg, and color vision. Linkage analysis indicated that dyskeratosis, G6PD, and Xg are far apart on the x chromosome. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells. The proband's cultured fibroblasts did not show increased susceptibility to malignant transformation by simian virus 40, an oncogenic virus.- - - - - - - - - - ranking = 2keywords = chromosome (Clic here for more details about this article) |
29/40. Dermal necrosis and chromosome Iq abnormality in a man with a familial myeloproliferative disorder.A 33 year old man, with pre-existing psoriasis and a family history of multiple occurrence of acute myeloid leukemia and other myeloproliferative disorders, developed steroid-responsive ulcerating skin lesions, pancytopenia, marrow hypoplasia, hyperglobulinemia and polyarthritis. An abnormal karyotype (47,XY i(1q] was detected in the bone marrow, and comparison with a case previously reported by Lee et al. Suggested that this abnormality may be significant. His sister, who developed chronic leucocytoclastic vasculitis, had pre-existing psoriasis, variable mild leucopenia and marrow dysplasia. review of available records of other affected family members documented the occurrence of steroid responsive pancytopenia, knee swelling and terminal lipoid pneumonia in a first cousin. Four other relatives died with acute myeloblastic leukemia and another died with myelofibrosis. Two healthy first degree relatives were subjected to laboratory investigations with essentially negative findings.- - - - - - - - - - ranking = 4keywords = chromosome (Clic here for more details about this article) |
30/40. Associated abnormalities of chromosomes 1, 5, and 11 in dysmyelopoietic syndromes.Two patients with dysmyelopoietic syndrome presented the same cytogenetic pattern in their bone marrow cells, i.e., trisomy of chromosomes #1 and #11, and terminal deletion of chromosome #5 (q13-q14). Two similar cases have been described in the literature. It is suggested that this cytogenetic pattern could be a nonrandom event.- - - - - - - - - - ranking = 6keywords = chromosome (Clic here for more details about this article) |
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