Cryptic insertion of 3'FOXO1 into inverted chromosome arm 2q in the presence of two normal chromosome 13s and 13 small interstitial duplications in a patient with alveolar rhabdomyosarcoma.

Alveolar rhabdomyosarcoma (ARMS) is a pediatric soft tissue neoplasm with a characteristic translocation, t(2;13)(q35;q14), which is detected in 70-80% of cases. This well-described translocation produces the gene fusion product PAX3-FOXO1. Cryptic rearrangements of this fusion have never before been reported in ARMS.

Narrowing down the common deleted region of 5q to 6.0 Mb in blastic plasmacytoid dendritic cell neoplasms.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and aggressive hematologic malignancy. Simple and complex recurrent cytogenetic abnormalities have been reported, which demonstrate predominantly genomic losses, of which deletions of 5q are the most frequent aberrations in BPDCN with or without cutaneous manifestation; however, the gene responsible for the disease remains unknown. Using microarray-based molecular characterization, a recent study on several cases of BPDCN with the 5q deletion identified a large, common deleted region (CDR) of 29 Mb that contains several possible candidate genes.

Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement.

An array-CGH on 19-year-old male showed a proximal 1.11 Mb duplication and a distal 1.7 Mb deletion of 22q11.

Deceptively benign low-grade fibromyxoid sarcoma: array-comparative genomic hybridization decodes the diagnosis.

Low-grade fibromyxoid sarcoma (previously known as Evans tumor) is a rare soft tissue neoplasm characterized by a deceptively bland appearance despite the potential for late metastasis or recurrence. We describe a 13-year-old patient with a popliteal fossa mass initially thought to be benign that, because of array-comparative genomic hybridization findings and subsequent immunohistochemistry, was diagnosed as low-grade fibromyxoid sarcoma. The array-comparative genomic hybridization demonstrated a loss of 11p11.

Coexistence of neocentromeric marker 3q and trisomy 3 in two different tissues in a 3-year-old boy with peripheral T-cell lymphoma: support for a gene dosage effect hypothesis.

A very small supernumerary de novo marker chromosome was ascertained during cytogenetic diagnosis of a 3 1/2-year-old boy with peripheral T-cell lymphoma, unspecified. The marker, which was C-band and alpha-satellite DNA negative, was identified in the pleural effusion and involved cervical lymph node whereas the involved bone marrow cells had trisomy 3 as a clone. The neocentromere marker was characterized by multiple probes demonstrating an inversion duplication of the distal portion of chromosome 3q involving the BCL6 gene.

Deletion of MYC and presence of double minutes with MYC amplification in a morphologic acute promyelocytic leukemia-like case lacking RARA rearrangement: could early exclusion of double-minute chromosomes be a prognostic factor?

Gene amplification on double minutes is rarely found in acute myeloid leukemia (AML) and is often linked to poor prognosis. It is often associated with acute myeloid leukemia with differentiation (AML-M2) and is rarely reported in acute promyelocytic leukemia (APL), which is characterized in the vast majority of cases by the reciprocal t(15;17)(q22;q21) with resultant translation of an abnormal PML-RARA fusion protein. Most of the rare cases of APL that lack this translocation have a demonstrable RARA breakpoint.