A Novel Constitutional t(3;8)(p26;q21) and and Variants in a Child with Myelodysplastic Neoplasm: Clinical Implications.

Background: Childhood myelodysplastic neoplasm (cMDS) often raises concerns about an underlying germline predisposition, and its verification is necessary to guide therapeutic choice and allow family counseling. Here, we report a novel constitutional t(3;8)(p26;q21) in a child with MDS, inherited from the father, the and variants from the maternal origin, and the acquisition of molecular alterations during MDS evolution.

Case Presentation: A 4-year-old girl showed repeated infections and severe neutropenia.

Aberrant Expression of in Pediatric Patients with Myelodysplastic Syndrome: A Potential Biomarker of Leukemic Evolution.

Pediatric myelodysplastic syndrome (MDS) is an uncommon disease and little is known about the molecular alterations of its development and evolution to acute myeloid leukemia (AML). The () is the catalytic subunit of Polycomb repressive complex 2 (PCR2). It is a histone methyltransferase, that targets lysine 27 of histone 3.