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Gadage V.S.,Hematopathology Laboratory | Kadam Amare P.S.,Cancer Cytogenetic Laboratory | Galani K.S.,Hematopathology Laboratory | Mittal N.,Hematopathology Laboratory
Indian Journal of Pathology and Microbiology

Systemic mastocytosis with associated clonal hematological nonmast cell lineage disease (SM-AHNMD) is a subtype of mastocytosis associated commonly with myeloid neoplasms, Non-Hodgkin' lymphoma, or other hematological neoplasms. In these conditions, mastocytosis needs to be differentiated from mast cell hyperplasia or mast cell activation states. Neoplastic nature of mastocytosis is proved either by morphology, aberrant immunophenotype, or detection of point mutation at codon-816 of c-kit gene. This is a rare entity, even more so in pediatric population. Herein, we report a case of 14-year-old girl with SM associated with acute myeloid leukemia with maturation with t(8;21). Multifocal dense infiltrate of spindle-shaped mast cells on bone marrow aspirate and biopsy with coexpression of CD2 and CD25 by flow cytometric analysis proved the SM component at the time of diagnosis and persistence at post induction status also. Source

Tassano E.,Cancer Cytogenetic Laboratory | Tavella E.,Cancer Cytogenetic Laboratory | Valli R.,University of Insubria | Micalizzi C.,Giannina Gaslini Institute | And 4 more authors.
Leukemia and Lymphoma

The incidence of therapy-related myelodysplastic syndrome (t-MDS) in pediatric patients is increasing in parallel with the more successful management of the primary tumor, but scant information is available on clinical and cytogenetic characteristics. We report here two children affected by t-MDS after chemo/radiotherapy for a primary solid tumor, both with an unbalanced translocation 1/6 in their bone marrow. Characterization by array comparative genomic hybridization of the imbalances showed an almost identical pattern: almost complete trisomy of the long arm of chromosome 1, and a terminal deletion and interstitial duplication of the short arm of chromosome 6. The gain of chromosome 6 short arm encompasses regions already highlighted as possibly relevant for t-MDS in adults, and we suggest that the unbalanced translocation reported here be considered a new recurrent, non-random chromosomal abnormality in pediatric patients with t-MDS. © 2012 Informa UK, Ltd. Source

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