1/11. Prolonged bone marrow failure with monosomy 7 after engraftment failure following bone marrow transplantation.A patient with acute myelogenous leukemia developed prolonged bone marrow failure along with the monosomy 7 chromosome abnormality. The patient had undergone bone marrow transplantation with CD34 selection following induction failure. However, she then suffered engraftment failure and long-term pancytopenia. Her white blood cell count gradually increased with supportive therapy including granulocyte colony-stimulating factor (G-CSF), and chromosomal analysis of bone marrow cells revealed an abnormal karyotype. Thirty months after the bone marrow transplantation we observed monosomy 7 together with the existing chromosomal abnormality in the patient's bone marrow cells. It has been reported that some patients with idiopathic and posthepatitis aplastic anemia develop clonal disorders such as myelodysplastic syndrome/acute myelogenous leukemia with monosomy 7. The findings in our case suggest that the appearance of monosomy 7 in patients with aplastic anemia may be caused by prolonged low-level hematopoiesis, with or without G-CSF stimulation.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/11. trisomy 15 as the sole abnormality in myelodysplastic syndromes: case report and review of the literature.trisomy 15 as the sole autosomal anomaly is uncommon in hematological malignancies but could be preferentially associated with myelodysplasia. We report a 61-year-old man who developed pancytopenia following two courses of chemotherapy for chronic lymphoid leukemia. Cytogenetic studies at diagnosis of pancytopenia with R banding showed a 47,XY, 15[3]/45,X[3]/46,XY[14] karyotype. A review of the 53 cases of myelodysplastic syndromes (MDS) and myeloid related disorders associated with trisomy 15 reported in the literature showed that 18 of the 31 men also lost the y chromosome in the trisomic 15 cell line. Their mean age was significantly higher than that of males who had not lost the y chromosome (p < 0.05). The main feature of the patient reported here is the presence of two abnormal cell lines, one having lost the y chromosome, the other having gained a chromosome 15. Therefore, the two events occurred independently, the loss of the y chromosome being possibly due to aging and the trisomy 15 to the hematologic disorder.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
3/11. Acute myelofibrosis in a patient with diffuse large cell non Hodgkin's lymphoma and renal cancer.Relapse after anthracycline based combination chemotherapy is frequently seen in patients with aggressive non Hodgkin's Lymphomas (NHL), whereas complications such as secondary leukemia or solid tumor rarely occur. We report a patient with diffuse large cell (DLC) NHL and concurrent renal cancer, who developed acute myelofibrosis (AMF) later in the course of her disease. This 60-year-old female patient presented with pancytopenia and a right sided renal mass. Diagnostic work up revealed severe bone marrow infiltration by DLC NHL and renal cancer T1N0M0G2. Cytogenetic and molecular evaluation of bone marow cells showed three distinct clones, (a normal 46XX karyotype, a ringed chromosome 7 and a third clone with an enlarged chromosome 2 as well as several fragments). The patient underwent nephrectomy and eventually received 6 cycles of CHOP 14 chemotherapy. anemia persisted followed by severe granulocytopenia and thrombocytopenia 6 weeks later. Repeated bone marrow biopsy showed absence of lymphoma and/or cancer metastasis, but massive myelofibrosis with an increased number of atypical megakaryocytes. Considering the short clinical course and the absence of hepatosplenomegaly AMF was diagnosed. The concurrence of three distinctneoplasms within a short period of time as well as the complex cytogenetic aberrations found in her bone marrow cells reflect a strong individual susceptibility to malignant disease in this patient.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
4/11. Transient pancytopenia preceding T lineage acute lymphoblastic leukemia.Transient pancytopenia preceding acute lymphoblastic leukemia (pre-ALL) is a rare occurrence usually affecting children with subsequent development of B lineage ALL. We report a case of pre-ALL characterized by a T cell immunophenotype and abnormal karyotype t (11; 14) (q10; q10). The patient achieved a transient complete remission after initial therapy, but relapsed within a few months and died of leukemic encephalopathy. To the best of our knowledge, this is the first report of T lineage pre-ALL.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
5/11. Molecular detection of a translocation (Y;11) (q11.2;q24) in a 45,X male with signs of Jacobsen syndrome.A 45,X karyotype was found in a boy with dysmorphic features, hypoglycaemia and pancytopenia. dna analysis showed the presence of the Y-chromosomal dna sequences SRY, ZFY, DYZ4, DYZ3 and DYS1. Using fluorescent in situ hybridization, we located DYZ4 and DYZ3 on chromosome 11qter and concluded that a de novo translocation (Y;11) (q11.2;q24) with a deletion of 11q24 qter and a deletion of Yq11.2 Yqter were present; Jacobsen syndrome and azoospermia are associated with these deletions. Signs of Jacobsen syndrome were observed in the patient.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
6/11. A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome?A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microcephaly, and anemia. Both died during childhood. Their parents were first cousins. Laboratory studies of the proband revealed hyperchromic erythrocytes with an increased HbF content, thrombocytopenia, an impaired mitogenic response of the PHA-stimulated lymphocytes, and partial impairment of humoral and cellular immunity. She developed pancytopenia in the terminal stage of the disease. Cytogenetic studies of the bone marrow revealed 46,XX, 15p , -18, mar karyotype, increased chromosomal aberrations and sister chromatid exchanges, in cultured lymphocytes and skin fibroblasts. She died at age 20. Thus, the disorder in the patient was deduced as an unclassified chromosomal breakage syndrome with an apparently autosomal recessive inheritance.- - - - - - - - - - ranking = 5keywords = karyotype (Clic here for more details about this article) |
7/11. 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 = 1keywords = karyotype (Clic here for more details about this article) |
8/11. 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 = 1keywords = karyotype (Clic here for more details about this article) |
9/11. Secondary leukemia following treatment of Hodgkin's disease: ultrastructural and cytogenetic data in two cases with a review of the literature.Two cases of secondary acute nonlymphocytic leukemia developing after combined chemo-radiotherapy for Hodgkin's disease (HD) are reported. The first case was a 28-year-old woman with PSIIIsA HD, treated with total lymphoid irradiation followed by combination chemotherapy that was almost entirely ABVD (Adriamycin, bleomycin, vinblastine, dacarbazine), who developed acute monoblastic leukemia three years after the diagnosis of Hodgkin's disease. We believe this to be the first reported case of secondary leukemia associated with the combination of radiotherapy and ABVD chemotherapy. The second case was a 37-year-old man with Stage IVB Hodgkin's disease, treated with radiotherapy and MOPP (nitrogen mustard, vincristine, procarbazine, prednisone) who developed acute myeloblastic leukemia five years after the diagnosis of Hodgkin's disease. Both cases showed typical changes of panmyelosis demonstrated by cytochemical and ultrastructural studies. In both cases, bone marrow cells had a dominant clone with a markedly abnormal karyotype. The nature of therapy-related secondary leukemia after Hodgkin's disease and its relationship to current modes of treatment are discussed.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
10/11. 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 = 1keywords = karyotype (Clic here for more details about this article) |
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