title: Do novo del(9)(p13) in a childhood T-cell prolymphocytic leukemia as sole abnormality.
abstract: T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive subtype of chronic lymphocytic leukemia. Usually it presents in older people with a median age of 61 years. T-PLL is characterized by elevated white blood cell (WBC) count with anemia and thrombocytopenia, hepatosplenomegaly, and lymphadenopathy; less common findings are skin infiltration and pleural effusions. The most frequent chromosomal abnormalities in T-PLL include 14q11.2, chromosome 8, and 11q rearrangements. Also deletions in the short arm of a chromosome 9 are reported in ~30% of T-PLL together with other aberrations. Here we report a childhood T-PLL case with a de novo del(9)(p13) as sole acquired anomaly leading to monosomy of the tumor suppressor gene CDKN2A (cyclin-dependent kinase inhibitor 2A). Also, to the best of our knowledge this is the first case of a childhood T-PLL with this aberration.
authors.affiliation: Human Genetics Division, Department of Molecular Biology and Biotechnology, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.
authors.forename: Abdulsamad
authors.initials: A
authors.lastname: Wafa
authors.affiliation: Molecular Biology and Biotechnology Department, Mammalians Biology Division, Flow-cytometry Laboratory, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.
authors.forename: Abdulmunim
authors.initials: A
authors.lastname: Aljapawe
authors.affiliation: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, D-07743 Germany.
authors.forename: Moneeb Ak
authors.initials: MA
authors.lastname: Othman
authors.affiliation: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, D-07743 Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
authors.affiliation: Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, Jena, D-07743 Germany.
authors.forename: Eyad
authors.initials: E
authors.lastname: Alhourani
authors.affiliation: Human Genetics Division, Department of Molecular Biology and Biotechnology, Atomic Energy Commission of Syria, P.O. Box 6091, Damascus, Syria.
authors.forename: Walid
authors.initials: W
authors.lastname: Al Achkar
keywords: Childhood T-cell prolymphocytic leukemia (T-PLL); Chromosomal aberrations; Fluorescence in situ hybridization (FISH); Multicolor banding (MCB)