Characterization of cryptic rearrangements, deletion, complex variants of PML, RARA in acute promyelocytic leukemia.

Acute promyelocytic leukemia (APL) is characterized by a reciprocal translocation t(15;17)(q22;q21) leading to the disruption of Promyelocytic leukemia (PML) and Retionic Acid Receptor Alpha (RARA) followed by reciprocal PML-RARA fusion in 90% of the cases. Fluorescence in situ hybridization (FISH) has overcome the hurdles of unavailability of abnormal and/or lack of metaphase cells, and detection of cryptic, submicroscopic rearrangements. In the present study, besides diagnostic approach we sought to analyze these cases for identification and characterization of cryptic rearrangements, deletion variants and unknown RARA translocation variants by application of D-FISH and RARA break-apart probe strategy on interphase and metaphase cells in a large series of 200 cases of APL.

Primary intraosseous myoepithelioma arising in the iliac bone and displaying trisomies of 11, 15, 17 with del (16q) and del (22q11)--A rare case report with review of literature.

Mixed tumors are uncommonly observed in the musculoskeletal system, where they form a common spectrum with a myoepithelioma and a parachordoma. Herein, we present a rare case of a mixed tumor/myoepithelioma arising in the iliac bone of a young adult male who presented with swelling in his right hip. Radiological imaging disclosed a large, intraosseous, lytic, heterogenous mass with a soft tissue component.

Darier's disease following radiotherapy for carcinoma of cervix.

Darier-White disease is due to a defect in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca2+ ATPase (SERCA2b). We report a case of carcinoma cervix in whom Darier's disease manifested after the initiation of radiation therapy. Conventional cytogenetics on peripheral blood revealed non-clonal constitutional autosomal and X chromosome abnormalities suggesting radiation induced gene toxicity.

Chromosomal rearrangement in Down syndrome with acute myeloid leukemia.

The incidence of acute leukemia in children with Down syndrome (DS) is high as compared to general population. Recent findings have demonstrated that DS children with acute myeloid leukemia (AML) have the highest event free survival rates with high dose cytosine arabinoside (Ara-C). We present 3 year-old DS female child with AML-M5, whose chromosomal analysis revealed constitutional t(21;21) alongwith del(5)(q31q33) and a unique translocation t(16;20)(q13;q12).