A leukemic presentation of alveolar rhabdomyosarcoma in a 52-year-old woman without an identifiable primary tumor.

A 52-year-old woman presented with fatigue and thrombocytopenia. Imaging studies were unremarkable with the exception of a positron emission tomography scan, which demonstrated intense F-18 fluorodeoxyglucose uptake fusing to the marrow. A bone marrow aspirate was notable for large discohesive cells with basophilic cytoplasm, and flow cytometric analysis identified a population of phenotypically unusual cells that coexpressed CD56 and CD71.

Co-occurrence of Langerhans cell histiocytosis and Rosai-Dorfman disease: possible relationship of two histiocytic disorders in rare cases.

Rosai-Dorfman disease and Langerhans cell histiocytosis are both disorders of accessory immune cells. Two cases have been previously reported of concurrent Langerhans cell histiocytosis and Rosai-Dorfman disease. In this report, we characterize the findings and selected molecular studies in nine additional cases.

Cytogenetic and molecular characterization of double inversion 3 associated with a cryptic BCR-ABL1 rearrangement and additional genetic changes.

Rearrangements of chromosome 3 involving bands 3q21 and 3q26 have been reported in about 2% of patients with acute myeloid leukemia, and rarely in myelodysplastic syndrome or chronic myelogenous leukemia (CML). To date, only six cases of inversion of both homologues have been reported. Loss of normal chromosome 3 and duplication of the inverted chromosome have been proposed as the most likely mechanism, but have not been shown experimentally.

Immunophenotypic profile predictive of KIT activating mutations in AML1-ETO leukemia.

Translocation (8; 21)/AML1-ETO is considered a favorable cytogenetic abnormality in acute myeloid leukemia (AML). However, associated KIT activating mutations confer poor outcome. The immunophenotype associated with KIT mutations in AML1-ETO has not previously been elucidated.

Burkitt t(8;14)(q24;q32) and cryptic deletion in a CLL patient: report of a case and review of literature.

A 53-year-old man diagnosed with chronic lymphocytic leukemia (CLL)-small lymphoma following splenectomy was found to have a t(8;14) with an apparent cryptic deletion of the MYC gene. This patient's spleen and bone marrow (BM) showed that 93% and approximately 70% of the viable cells, respectively, were lambda-monoclonal B-cells coexpressing CD5 with CD20, CD19, CD23, CD22, CD38, and low FMC-7. The smear showed a marked increase in small, mature lymphoid cells, with <2% prolymphocytes.