1/5. Novel association of haemophagocytic syndrome with Kaposi's sarcoma-associated herpesvirus-related primary effusion lymphoma.Haemophagocytic syndrome (HPS) is a fulminant, often fatal, systemic illness that occurs in association with infection and malignancy. We provide the first report of HPS that heralded a primary effusion lymphoma (PEL), a rare neoplasm linked to Kaposi's sarcoma-associated herpesvirus. The patient was a 38-year-old man with acquired immunodeficiency syndrome who presented with fever, sweats, lymphadenopathy, splenomegaly and refractory anaemia. Examination of the spleen demonstrated haemophagocytosis; analysis of ascites revealed PEL. Treatment with chemotherapy and ganciclovir resulted in complete remission of both conditions. This case illustrates the diagnostic challenges posed by HPS and supports the trial of antiviral agents in combination with chemotherapy in patients with PEL.- - - - - - - - - - ranking = 1keywords = neoplasm, malignancy (Clic here for more details about this article) |
2/5. Unusual findings in two patients with acquired deletions of the long arm of chromosome 5 (5q-).Two patients with acquired deletions of the long arm of chromosome 5 (5q-) are presented and discussed. For both, clinical and other laboratory tests are highly atypical of patients with haematological malignancy characterized by 5q-. These unusual presentations of the 5q- anomaly further emphasize the heterogeneity of clinical presentations associated with this acquired chromosomal abnormality.- - - - - - - - - - ranking = 106.01769195453keywords = haematological malignancy, malignancy (Clic here for more details about this article) |
3/5. fluorescence in situ hybridization analysis of whole-arm 7;12 translocations in hematologic malignancies.cytogenetic analysis of one case of acute myeloid leukemia (AML), one of acute lymphoblastic leukemia (ALL), one of refractory anemia with excess of blasts (RAEB), and one of acute mixed lineage leukemia (AMLL) with unbalanced 7;12 translocations mapped the breakpoints to the centromeres on both chromosomes. The rearrangements were interpreted as the whole-arm translocations der(7;12)(q10;q10) in the AML and ALL and der(7;12)(p10;q10) in the RAEB and AMLL. However, further analysis by metaphase and/or interphase fluorescence in situ hybridization (FISH) showed centric fusion only in the AML and ALL. In the RAEB and AMLL, centromeric material from chromosome 7 but not from 12 was present in the derivative chromosome. Whereas the t(7;12) resulted in loss of 12p in all four cases, the corresponding chromosome 7 imbalances differed--monosomy for 7q in the RAEB and AMLL and monosomy for 7p in the AML and ALL. Six hematologic neoplasms with unbalanced whole-arm or near-centromeric 7;12 translocations and seven dic(7;12) with juxtacentromeric breakpoints have been reported previously: 2 AML, 1 RAEB in transformation, and 10 ALL. All karyotypically informative cases had loss of 12p material. All but one of the cases with combined 7p and 12p deletion were ALL, whereas all cases with 7q and 12p loss showed myeloid differentiation. No particular clinical, morphologic, or immunophenotypic features seem to characterize ALLs with t(7;12). AMLs with an unbalanced t(7;12), often together with 5q deletions, might be associated with previous genotoxic exposure and poor prognosis.- - - - - - - - - - ranking = 0.56720494724141keywords = neoplasm (Clic here for more details about this article) |
4/5. trisomy 15 in hematological malignancies: six cases and review of the literature.We report six cases of trisomy 15 in patients with hematological malignancy. In four cases trisomy 15 was the sole abnormality and in two cases it was associated with sex chromosome loss.The patient age range was 6-91 years, and three patients were male. Four patients had myelodysplasia (refractory anemia), one patient each had acute myeloid leukemia and acute lymphoblastic leukemia. A literature review identified ten other cases of trisomy 15 as the sole abnormality in hematological malignancies. trisomy 15 as the sole autosomal abnormality in hematological malignancy is uncommon, but can occur in both myeloid and lymphoid malignancies. It appears to occur most frequently in myelodysplasia.- - - - - - - - - - ranking = 0.86559010551718keywords = malignancy (Clic here for more details about this article) |
5/5. Constitutional trisomy 8 as first mutation in multistep carcinogenesis: clinical, cytogenetic, and molecular data on three cases.Three patients, with constitutional trisomy 8 mosaicism (CT8M), who developed a malignancy are reported. The diagnoses were refractory anaemia, acute lymphoblastic leukaemia, and idiopathic myelofibrosis. In the child with acute leukaemia, the CT8M was diagnosed at birth due to severe dysmorphisms and malformations; the other two patients showed a milder phenotype, and the CT8M was diagnosed only after the finding of trisomy 8 in neoplastic cells. The review of eight similar, previously reported cases and the clinical, cytogenetic, and molecular studies performed in our patients led us to make the following observations: (I) CT8M predisposes to neoplasms, preferentially to myelo- or lymphoproliferative diseases; (2) a gene dosage effect for glutathione reductase in red blood cells was seen in two of our patients; (3) the wide phenotypic variation of CT8M was confirmed: trisomy 8 in neoplastic cells of phenotypically near-normal cases may be misinterpreted as acquired; and (4) molecular studies suggested a postzygotic origin of the trisomy in our three cases, with the supernumerary chromosome being of paternal origin in one case and of maternal origin in the other two. We postulate that the trisomy 8 in neoplasms may often occur by mitotic nondisjunction in an early embryonic multipotent cell and that what is usually interpreted as an acquired trisomy 8 may in fact be CT8M. The constitutional trisomy 8 would act as a pathogenetically important first mutation in multistep carcinogenesis. Whenever trisomy 8 is found in malignancies, the patient should be reevaluated clinically to exclude CT8M, and CT8M patients should be monitored for the possible development of malignancies.- - - - - - - - - - ranking = 1.5672049472414keywords = neoplasm, malignancy (Clic here for more details about this article) |