Article
Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.
International journal of hematology - 1 Dec 2021
Sato Daichi, Moriya Kunihiko, Nakano Tomohiro, Miyagawa Chihiro, Katayama Saori, Niizuma Hidetaka, Sasahara Yoji, Kure Shigeo
Abstract excerpt
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosomal breakage syndrome caused by mutation of the ATM (A-T mutated) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. Approximately, 10% of A-T patients develop lymphoid malignancies. Deaths caused by extreme sensitivity to chemotherapy for malignancy have been reported, and cancer treatment in A-T is...
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