Acute Promyelocytic Leukemia with Rare Genetic Aberrations: A Report of Three Cases.

Acute promyelocytic leukemia (APL) is a unique subtype of acute myeloid leukemia (AML) that is characterized by the fusion or, more rarely, a variant translocation. While APL can be clinically suspected, diagnosis of APL requires genetic confirmation. Targeted therapy such as all-trans-retinoic acid (ATRA) and arsenic trioxide (ATO) has dramatically improved the prognosis of APL patients, but this is dependent on timely genetic testing as different fusions and/or mutations can affect therapeutic outcomes.

Characterization of a complex rearrangement involving duplication and deletion of 9p in an infant with craniofacial dysmorphism and cardiac anomalies.

Partial duplication and partial deletion of the short arm of chromosome 9 have each been reported in the literature as clinically recognizable syndromes. We present clinical, cytogenetic, and molecular findings on a five-week-old female infant with concomitant duplication and terminal deletion of the short arm of chromosome 9. To our knowledge ten such cases have previously been reported.

Role of defective Oct-2 and OCA-B expression in immunoglobulin production and Kaposi's sarcoma-associated herpesvirus lytic reactivation in primary effusion lymphoma.

Primary effusion lymphoma (PEL) is a distinct type of B-cell non-Hodgkin lymphoma characterized by the presence of Kaposi's sarcoma-associated herpesvirus (KSHV/human herpesvirus 8). Despite having a genotype and gene expression signature of highly differentiated B cells, PEL does not usually express surface or cytoplasmic immunoglobulin (Ig). We show the lack of Oct-2 and OCA-B transcription factors to be responsible, at least in part, for this defect in Ig production.

KSHV LANA inhibits TGF-beta signaling through epigenetic silencing of the TGF-beta type II receptor.

Signaling through the transforming growth factor-beta (TGF-beta) pathway results in growth inhibition and induction of apoptosis in various cell types. We show that this pathway is blocked in Kaposi sarcoma herpesvirus (KSHV)-infected primary effusion lymphoma through down-regulation of the TGF-beta type II receptor (TbetaRII) by epigenetic mechanisms. Our data also suggest that KSHV infection may result in lower expression of TbetaRII in Kaposi sarcoma and multicentric Castleman disease.

Uncovering the complexities of Kaposi's sarcoma through genome-wide expression analysis.

Gene-expression profiling of endothelial cells infected with Kaposi's sarcoma-associated herpesvirus has led to a greater understanding of the histogenesis of Kaposi's sarcoma and cellular reprogramming events that occur as a result of viral infection and that may play important roles in viral pathogenesis.