T-Cell Acute Lymphoblastic Leukemia in a Young Adult With Thrombocytopenia-absent Radius Syndrome: A Case Report and Review of the Literature.
J Pediatr Hematol Oncol
; 43(6): 232-235, 2021 08 01.
Article
em En
| MEDLINE
| ID: mdl-32815886
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Trombocitopenia
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Deformidades Congênitas das Extremidades Superiores
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Leucemia-Linfoma Linfoblástico de Células T Precursoras
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Síndrome Congênita de Insuficiência da Medula Óssea
Limite:
Adult
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Female
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Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article