Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous   ATM   mutation | Zendy

Ostendorf Benjamin N. | Zendy; Terwey Theis H. | Zendy; Hemmati Philipp G. | Zendy; Böhmer Dirk | Zendy; Pleyer Uwe | Zendy; Arnold Renate | Zendy

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Severe radiotoxicity in an allogeneic transplant recipient with a heterozygous ATM mutation

Author(s) -

Ostendorf Benjamin N.,

Terwey Theis H.,

Hemmati Philipp G.,

Böhmer Dirk,

Pleyer Uwe,

Arnold Renate

Publication year - 2015

Publication title -

european journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.904

H-Index - 84

eISSN - 1600-0609

pISSN - 0902-4441

DOI - 10.1111/ejh.12400

Subject(s) - medicine , ataxia telangiectasia , toxicity , mutation , radiation therapy , hematopoietic stem cell transplantation , oncology , haematopoiesis , telangiectasia , transplantation , stem cell , pathology , biology , gene , genetics , dna damage , dna

Patients receiving radiotherapy often experience toxicity of the skin and mucous membranes. While radiotherapy is a mainstay of myeloablative conditioning for allogeneic hematopoietic stem cell transplantation ( ASCT ), no risk factors for radiotoxicity have been identified in this setting. Here, we report on a patient with excessive radiation‐induced toxicity after ASCT who carried a heterozygous mutation in the Ataxia telangiectasia mutated ( ATM ) gene. This is the first case to suggest a genetic basis for increased radiotoxicity after myeloablative ASCT .

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