1/8. association of t(9;11)-MLL AF9 and trisomy 8 in an AML-M5 preceded by pancytopenia.The implication of MLL gene rearrangements in the prognosis of acute myeloblastic leukemia is an issue of considerable current interest. We report a case of a young man who initially presented with a pancytopenia and went on to develop a highly-aggressive acute myeloblastic leukemia. At this time, the karyotypic study revealed trisomy 8, a t(9;11) was demonstrated by fluorescence in situ hybridization (FISH) and the MLL/AF4 rearrangement by reverse transcriptase-polymerase chain reaction (RT-PCR).- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/8. Girl with combined cellular immunodeficiency, pancytopenia, malformations, deletion 11q23.3 --> qter, and trisomy 8q24.3 --> qter.We describe here a 3-year-old girl demonstrating combined cellular immunodeficiency of B- and T-cells, pancytopenia, multiple anomalies, and severe mental retardation. cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. The association of cellular immunodeficiency and partial deletion 11q and/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one-third to one-half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23-q24 region. Our case narrows down the critical interval for thrombo- or pancytopenia to 11q23.3-q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and t-lymphocytes) in our patient.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/8. 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 = 1keywords = hybridization (Clic here for more details about this article) |
4/8. Development of hepatosplenic gammadelta T-cell lymphoma with pancytopenia during early pregnancy: a case report and review of the literature.Lymphomas rarely develop during pregnancy, but hepatosplenic gammadelta T-cell lymphoma (HSgammadeltaTCL) is extremely rare. We encountered a case of T-cell intracellular antigen-1 (TIA-1) positive and granzyme B-positive HSgammadeltaTCL that developed early during the course of pregnancy. The patient was a 31-yr-old female who was referred to our hospital because of pancytopenia and splenomegaly at the time of the14th week of her gestation. Her pancytopenia and hepatosplenomegaly worsened and she became fibril at the 27th week of gestation and cesarean section was performed at the 29th week. Histopathological examination of the spleen, which was resected 28 d after delivery for a diagnostic purpose, revealed medium to large-sized nodules composed of dense proliferation of lymphoid cells having round to oval-shaped nuclei and abundant weakly eosinophilic cytoplasm. They were CD3epsilon , mCD3 , CD4-, CD8-, CD56 , CD79a-, T-cell receptor (TCR)-gammadelta protein , TIA-1 , and granzyme B by either immunohistochemistry or flow cytometry. Clonal rearrangement of TCR-gamma genes without such rearrangement of TCR-delta and TCR-beta genes was confirmed by Southern blot hybridization. Thus, the patient was diagnosed as having HSgammadeltaTCL, and combination chemotherapy was initiated. She is currently in partial remission. To our knowledge, this is the first case report of HSgammadeltaTCL that developed during pregnancy. Pathogenesis of pregnancy-associated lymphoma is not known, but it is possible that maternal immunity during pregnancy or a hormonal imbalance, such as a change in the progesterone level, induces the development of lymphoma. pregnancy-associated lymphoma is resistant to standard chemotherapy and is associated with poor prognosis. Therefore, it is important to accumulate clinicopathologic data of such cases for the development of a treatment modality.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
5/8. 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 = hybridization (Clic here for more details about this article) |
6/8. 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 = hybridization (Clic here for more details about this article) |
7/8. A multimodal approach for diagnosing patients with acute promyelocytic leukaemia.A practical and efficient multi-modal protocol for processing specimens for patients referred with a question of acute promyelocytic leukaemia (APL) is described. The initial analysis comprises haematological evaluation of the bone marrow and peripheral blood smears using Romanowsky-stained slides. Concomitantly, a sample is processed for direct preparation as well as 1- and 2-day unstimulated cultures using conventional cytogenetic techniques. communication between the cytogenetic and haematological laboratories is of critical importance so that the optimal conditions for culture (i.e. longer term versus unstimulated overnight and direct preparations) for the cytogenetic detection of chromosome rearrangements can be selected. The likelihood of detecting the characteristic translocation of APL, t(15;17), is enhanced in a longer term culture versus unstimulated overnight and direct preparations. Fluorescent in situ hybridization (FISH), utilized as an adjunct to GTG-banding, was found to be a powerful technique for detecting the t(15;17), especially where the GTG-banded preparation was of suboptimal quality. Results of five recent representative cases of APL are described to illustrate a practical approach which can be adapted by any clinical pathology laboratory.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/8. Human parvovirus B19 capsid antigen in granulocytes in parvovirus-B19-induced pancytopenia after bone marrow transplantation.A patient with refractory anemia with an excess of blasts in transformation developed pancytopenia and a concurrent interstitial pneumonia 110 days after allogeneic bone marrow transplantation. bone marrow examination showed 0.4% giant proerythroblasts and 86.2% granulocytes, some of them large with a bizarre configuration and the others of normal size. serum folate level was found low, 0.6 ng/ml. Immunocytochemistry with a B19-specific monoclonal antibody MAB8292 revealed B19 capsid antigen only in erythroblasts and large, bizarre granulocytes, but not in granulocytes of normal size. in situ hybridization of bone marrow cells using digoxigenin-labeled dna probes detecting parvovirus B19 also demonstrated positive signals in 8.5% of marrow cells. parvovirus B19 DNA was isolated from the serum and the bronchoalveolar lavage fluid of this patient by the polymerase chain reaction. These findings suggest that neutropenia may be caused by an involvement with parvovirus B19 though a deficiency of folic acid may have in part contributed to the genesis of neutropenia in the patient. The relevance of parvovirus B19 to the interstitial pneumonia remains unclear.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |