1/15. Two cases of myeloid disorders and a t(8;12) (q12;p13).BACKGROUND AND OBJECTIVE: Rearrangements of the short arm of chromosome 12 have been described in different hematologic malignancies. Some of these abnormalities showed a rearrangement of the ETV6 gene. We studied the 12p region in one case with a t(8;12)(q12;p13) by fluorescence in situ hybridization (FISH). DESIGN AND methods: We have identified a chromosome translocation, t(8;12)(q12;p13) in two patients with myeloid disorders; one with acute myelogenous leukemia (AML) and one with refractory anemia (RA). FISH studies with specific probes (cosmids and YACs) for the 12p region were used to investigate one case. RESULTS: FISH studies demonstrated hemizygous loss of the ETV6 and CDKN1B regions and two copies of the CCDN2 locus, as a result of the balanced translocation and an additional copy of the der(8). INTERPRETATION AND CONCLUSIONS: Myeloid diseases with t(8;12)(q12;p13) have an interstitial deletion of 12p, including the ETV6 and CDKN1B regions. A duplication of CCDN2 locus can also be found.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
2/15. Secondary acute myeloid leukaemia with monosomy 7 in identical adult twins.We report the development of secondary acute myeloid leukaemia (AML) with monosomy 7 in identical twins, both at the age of 52 years. In the first twin, induction therapy resulted in complete remission (CR). At relapse 9 months later monosomy 7 was found. The patient died of sepsis 11 months after diagnosis. The other twin presented with leucopenia and thrombocytopenia and refractory anaemia (RA) was diagnosed. During follow-up, fluorescence in situ hybridization analysis demonstrated a monosomy 7 in 11% of the cells. Twenty-eight months following diagnosis the patient progressed to RA with excess blasts in transformation and induction chemotherapy was initiated without achieving CR. Three months later an allogeneic stem cell transplantation from a niece was performed, resulting in CR of the secondary AML.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
3/15. A unique clone involving multiple structural chromosome rearrangements in a myelodysplastic syndrome case.In a young female patient presenting with a myelodysplastic syndrome (MDS), a unique clone involving six structural chromosome rearrangements was identified using G-banding and molecular cytogenetic techniques. Fifty GTG-banded metaphases from bone marrow were initially analyzed and all metaphases contained all of the six structural chromosome rearrangements. To further define the GTG-banded karyotype, a series of fluorescence in situ hybridization and primed in situ labeling experiments were performed and the karyotype was then characterized as: 46,XX,r(5)(p13q13),der(20)t(5;20),dup(11)(p11.2p15), r(11)(p15q25),del(13)(q14),idic(22)(p11). The patient quickly progressed to acute nonlymphocytic leukemia three months after the diagnosis and died of a hemorrhage in the brain parenchyma two months later. In this case, the multiple structural chromosome rearrangements conferred an obvious cellular proliferative advantage and indicated a very poor prognosis. Considering that multiple chromosome abnormalities associated with MDS transformation are often polyclonal, this unique clone involving six structural chromosome rearrangements make our case highly unusual.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
4/15. One allele deletion of the RB1 gene in a case of refractory anemia with del(13)(q12q14): a fluorescence in situ hybridization study of the RB1 gene.The tumor suppressor gene RB1 is known to be located on chromosome band 13q14. We investigated the involvement of the RB1 gene in a case of refractory anemia with del(13)(q12q14) by florescence in situ hybridization (FISH) analysis using the RB1 locus (13q14) dna probe. bone marrow cells derived from this patient exhibited a single signal of the RB1 gene in 58 of 100 bone marrow cells, as determined by interphase FISH analysis. Hematopoietic colony-forming assays showed that the absolute number of erythroid, myeloid, and mixed colonies was comparable to that of normal subjects. FISH analysis of selected colonies revealed that only a single signal for the RB1 gene was detected in five of five granulocyte macrophage-colony-forming units (CFUs), four of five erythroid burst-forming units, and two of four mixed CFUs (total 11/14: 78.6%). Thus, the majority of hematopoietic progenitor cells lacked one allele of the RB1 gene, suggesting that in this particular case the RB1 gene played an important role in abnormal hematopoiesis.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
5/15. 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) |
6/15. Spontaneous remission of Epstein-Barr virus-negative non-Hodgkin's lymphoma after withdrawal of cyclosporine in a patient with refractory anemia.A 70-year-old man presented with pancytopenia in August 2000, and the results of a bone marrow examination performed in January 2001 confirmed the diagnosis of refractory anemia. He was treated with cyclosporine (CsA) at 3.3 mg/kg per day, and the pancytopenia improved. The patient complained of epigastralgia 21 months later, and a gastric endoscopic examination showed an ulcer with a cleaved bank. A biopsy revealed diffuse large B-cell lymphoma. in situ hybridization analysis detected no Epstein-Barr virus (EBV) in the lymphoma. CsA treatment was discontinued, and a gastrectomy was performed 31 days later. A detailed histologic examination revealed no infiltration of abnormal B-cells in the resected stomach. Although EBV-positive lymphoma is a known complication of immunosuppressive therapy, no causal association between immunosuppressants and EBV-negative lymphoma has been established. The spontaneous remission observed after the withdrawal of CsA treatment suggests that immunosuppressive therapy can be a pathogenic factor in a subset of EBV-negative lymphomas.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
7/15. Cryptic insertion producing two NUP98/NSD1 chimeric transcripts in adult refractory anemia with an excess of blasts.We performed cytogenetic and molecular studies on an adult patient with refractory anemia with an excess of blasts with an add(11)(p15). Multicolor fluorescence in situ hybridization (FISH) identified the extra material on 11p as belonging to chromosome 15. metaphase FISH with probes for chromosomes 5, 11, and 15 revealed a complex four-break rearrangement. Clone RP5-1173K1, containing exons 10-20 of the NUP98 gene, gave three fluorescence signals on the normal 11, the der(5), and the der(15). 3'-RACE-PCR identified an in-frame fusion between NUP98 and NSD1, which was confirmed by RT-PCR. Two different spliced forms, that is, NUP98 exon 11/NSD1 exon 6 and NUP98 exon 12/NSD1 exon 6, were detected. The reciprocal NSD1/NUP98 was not found. A dual-color experiment with RP5-1173K1 and CTC-549A4, spanning the entire NSD1 gene, indicated an insertion of NUP98 into the NSD1 locus. This is the first report of an adult with myelodysplastic syndrome (MDS) harboring an NUP98/NSD1 fusion resulting from insertion of 5'-NUP98 into the NSD1/5q35 locus.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
8/15. Recurrent oral condylomata acuminata and hairy leukoplakia: an early sign of myelodysplastic syndrome in an HIV-seronegative patient.Oral hairy leukoplakia (OHL) has been observed in all risk groups seropositive for HIV infection. Recently, this lesion has also been described in HIV-seronegative patients with immunosuppression of iatrogenic origin. We report on a hiv-1 and hiv-2 seronegative, heterosexual man affected by refractory anemia with ringed sideroblasts (myelodysplastic syndrome), who developed recurrent oral condylomata acuminata and OHL as an early clinical manifestation. The diagnosis of OHL was confirmed by identifying Epstein-Barr viral particles by electron microscopy and by in situ dna hybridization. HIV infection was ruled out using polymerase chain reaction and testing for hiv-1 and hiv-2 antibodies.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
9/15. Refractory cytopenia with t(1;7), 8 abnormality and dysplastic eosinophils showing intranuclear Charcot-Leyden crystals: a fluorescence in situ hybridization study.A case of refractory cytopenia and marrow eosinophilia showing t(1;7) translocation and concomitant trisomy 8 is reported. The eosinophils were dysplastic, and showed the unique feature of intranuclear Charcot-Leyden crystal formation, giving rise to a 'lip-like' appearance. We speculate that this unusual cytologic feature resulted from abnormal precipitation of Charcot-Leyden crystal protein in the eosinophils. By fluorescence in situ hybridization using a chromosome 8 specific alpha-satellite probe, the abnormal eosinophils were shown to have derived from the abnormal clone. We postulate that the dysplastic clone might have retained a differentiation potential and be responsive to normal haemopoietic stimuli.- - - - - - - - - - ranking = 5keywords = hybridization (Clic here for more details about this article) |
10/15. Refractory anaemia with hypereosinophilia and clonal abnormal metaphases detected only in the neutrophilic granulopoietic series.We report a case with refractory anaemia terminating in an acute leukaemia, which showed from the very beginning an intense eosinophilia that lasted for the whole disease, and in which the eosinophilic metaphases, as documented by the 'Morphology, Antibody, Chromosome' technique, were normal. An unusual karyotypic anomaly in the setting of a myelodysplastic syndrome could only be detected in the neutrophilic series. A general approach to detect structural aberrations of specific human chromosomes in metaphase cells by chromosomal in situ suppression hybridization of dna libraries from sorted human chromosomes has been applied for chromosomes 11, 3 and 2, in order to identify an extra copy of chromosome 2.- - - - - - - - - - ranking = 1keywords = hybridization (Clic here for more details about this article) |
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