T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature. Issue 6 (August 2021)

• Record Type: Journal Article
• Authors: Beauvais, David; Cabannes-Hamy, Aurélie; Leblanc, Thierry; Dhédin, Nathalie; Magda, Alexis; Cuccuini, Wendy; Clappier, Emmanuelle; Vial, Yoann; Boissel, Nicolas
• Is Part Of: Journal of pediatric hematology/oncology. Volume 43:Issue 6(2021)
• Publication Date: 2021-08
• Subjects: T-cell acute lymphoblastic leukemia -- thrombocytopenia-absent radius syndrome -- inherited bone marrow failure syndrome; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001919
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Thrombocytopenia-absent radius (TAR) syndrome is a rare inherited bone marrow failure syndrome not generally associated with acute leukemia. The authors report a case of T-cell acute lymphoblastic leukemia in an adult female individual newly diagnosed with TAR syndrome. A 347-kb microdeletion of chromosome 1q21.1 involving the RBM8A gene was detected within a gain of whole chromosome 1. Next-generation sequencing on fibroblasts confirmed germline heterozygous deletion of RBM8A but on the other allele, noncoding low-frequency regulatory single-nucleotide polymorphism of RBM8A (rs139428292; rs201779890) were not found. The tolerance of the treatment was unusual and mostly marked by a slow hematopoietic recovery leading to a 6-month delay at the beginning of the maintenance phase. Only 5 cases of acute leukemia were reported in patients with TAR syndrome in the literature: 4 acute myeloid leukemia and one B-cell acute lymphoblastic leukemia. This is the first report of T-cell acute lymphoid leukemia occurring in the context of TAR syndrome.