11/40. 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 = chromosome (Clic here for more details about this article) |
12/40. 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 = 0.4keywords = chromosome (Clic here for more details about this article) |
13/40. Therapy-related myelodysplastic syndrome in children with medulloblastoma following MOPP chemotherapy.Between 1978 and 1988, 20 children with medulloblastoma (MB) of the brain were treated postoperatively with MOPP (nitrogen mustard, vincristine, prednisone, and procarbazine). All but one received post-operative radiation prior to MOPP. Eight of 20 patients remained in continuous complete remission from MB, two of whom eventually developed myelodysplastic syndrome (MDS). Following resection of MB at age 12 months, one patient was treated with 24 courses of MOPP over 2 years without radiation therapy. She developed pancytopenia, and MDS was diagnosed 19 months after the completion of MOPP. Analysis of unstimulated bone marrow (BM) chromosomes showed structural abnormalities involving chromosomes 7, 10, 17, and 21. Eight months later, MDS evolved into acute myeloid leukemia. The second patient was diagnosed with MB at age 7 years and received postoperative craniospinal radiation followed by 12 courses of MOPP over one year. Five months after completion of MOPP, she developed MDS with monosomy 7 on chromosome analysis of bone marrow cells. Therapy-related MDS may be a complication of MOPP chemotherapy for MB in young children.- - - - - - - - - - ranking = 0.6keywords = chromosome (Clic here for more details about this article) |
14/40. Protein 4.1 deficiency and deletion of chromosome 20q are associated with acquired elliptocytosis in myelodysplastic syndrome.We report a case of myelodysplastic syndrome (MDS), associated with prominent elliptocytosis. A 66-year-old male presented with peripheral pancytopenia, and was diagnosed with MDS [refractory anaemia (RA)]. Apart from marked elliptocytosis, dyshaematopoietic features were not evident in his peripheral blood or hypercellular bone marrow. After 18 months, he had progressed to RA with excess blasts in transformation. Analysis of red blood cell membrane proteins by sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) showed a reduced quantity of protein 4.1 (30% of control). Deletion of chromosome 20q was identified by conventional cytogenetic analysis and fluorescence in situ hybridization. Marked elliptocytosis, persistent for more than 17 months, decreased strikingly after chemotherapy with idarubicin and Ara-C. These findings suggest that acquired elliptocytosis occurred as an unusual morphological feature of MDS, associated with abnormalities of protein 4.1 and chromosome 20q.- - - - - - - - - - ranking = 1.2keywords = chromosome (Clic here for more details about this article) |
15/40. 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 = 0.2keywords = chromosome (Clic here for more details about this article) |
16/40. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita.skin fibroblast cultures from a female patient with dyskeratosis congenita revealed markedly increased frequencies of chromosomal breaks, hypodiploidy, and premature centromere disjunction. The frequencies of mitotic disturbances, like ana- and telophase bridges, lagging chromosomes, and micronuclei were almost as dramatically elevated as in cultures from two severely affected patients with fanconi anemia. Provided that our patient is representative for an autosomal form of dyskeratosis congenita, this type of the disease seems to be characterized by chromosomal instability with a characteristic pattern of cytogenetic abnormalities.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
17/40. bcr-abl-positive T-cell acute lymphoblastic leukemia associated with parvovirus B19 infection.The authors report an unusual presentation of a philadelphia chromosome-positive acute lymphoblastic leukemia with two unusual features: a bcr-abl fusion mRNA coding for p210 protein and a T-cell immunophenotype. The patient was a 16-year-old boy who presented with septic shock and pancytopenia, likely precipitated by an acute parvovirus B19 infection. Management consisted of supportive therapy, followed by chemotherapy for T-cell acute lymphoblastic leukemia and stem cell transplantation. He died 8 months after transplant due to idiopathic pneumonia syndrome, but without evidence of relapsed disease.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
18/40. 5q- syndrome in a child with slowly progressive pancytopenia: a case report and review of the literature.5q- syndrome is a rare myelodysplastic process occurring predominately in middle aged to elderly women. In children, myelodysplasia of all types is rare and 5q- syndrome is exceptionally rare. Only 6 cases of 5q- associated myelodysplasia have been reported in children and all 6 cases had blast counts >5% and/or additional cytogenetic abnormalities. We report a case of 5q- syndrome in a girl who presented with macrocytosis and intermittent pancytopenia at age 5. Cytogenetic studies at age 8 revealed a large interstitial deletion of chromosome 5q without other cytogenetic abnormalities. The patient was clinically stable until age 11, when she became transfusion dependent and severely neutropenic. Subsequently, she underwent a successful unrelated cord blood transplant. To our knowledge, this is the first reported pediatric case meeting the strict criteria for 5q- syndrome.- - - - - - - - - - ranking = 0.2keywords = chromosome (Clic here for more details about this article) |
19/40. Concurrent development of crohn disease and myelodysplastic syndrome in a child: case report and literature review.A small number of cases of crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone marrow showed a chromosome 20 abnormality. Although chromosome 20 abnormalities have been reported in a minority of these patients, the significance of this association remains unclear at the present time.- - - - - - - - - - ranking = 0.4keywords = chromosome (Clic here for more details about this article) |
20/40. 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 = 2.0967685525026keywords = breakage, chromosome (Clic here for more details about this article) |
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