Pediatrik Bir Lösemi Olgusunda Tiyopurin S-Metiltransferaz *3A/*3C Polimorfizmi ile İlişkili Ağır Miyelotoksisite-Steroid Tedavisinin Etkisi
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Tarih
2014
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Miyelosupresyon, akut lenfoblastik lösemi tedavisinde görülen ciddi bir komplikasyon olup, miyelosupresyon süresi kemik iliği yetmezlik sendromlarından veya genetik polimorfizmin yol açtığı ilaç farmakogenetiğinden etkilenmektedir. Merkaptopürin metabolizasında yer alan Thiopurin s-metil transferaz (TPMT) enziminin azalmış aktivitesine neden olan polimorfizmleri artmış kemik iliği toksisitesine yol açar. Burada, 15 yaşında TPMT *3A/*3C ve MTHFR polimorfizmleri saptanan ve konsolidasyon/idame tedavisi boyunca MP'nin standart dozun %5'inde yoğun miyelosupresyon görülen ve steroid tedavisi ile geçici düzelme saptanan bir T-ALL olgusu sunulmaktadır.
Myelosuppression is a serious complication during treatment of acute lymphoblastic leukemia and the duration of myelosuppression is affected by underlying bone marrow failure syndromes and drug pharmacogenetics caused by genetic polymorphisms. Mutations in the thiopurine S-methyltransferase (TPMT) gene causing excessive myelosuppression during 6-mercaptopurine (MP) therapy may cause excessive bone marrow toxicity. We report the case of a 15-year-old girl with T-ALL who developed severe pancytopenia during consolidation and maintenance therapy despite reduction of the dose of MP to 5% of the standard dose. Prednisolone therapy produced a remarkable but transient bone marrow recovery. Analysis of common TPMT polymorphisms revealed TPMT *3A/*3C.
Myelosuppression is a serious complication during treatment of acute lymphoblastic leukemia and the duration of myelosuppression is affected by underlying bone marrow failure syndromes and drug pharmacogenetics caused by genetic polymorphisms. Mutations in the thiopurine S-methyltransferase (TPMT) gene causing excessive myelosuppression during 6-mercaptopurine (MP) therapy may cause excessive bone marrow toxicity. We report the case of a 15-year-old girl with T-ALL who developed severe pancytopenia during consolidation and maintenance therapy despite reduction of the dose of MP to 5% of the standard dose. Prednisolone therapy produced a remarkable but transient bone marrow recovery. Analysis of common TPMT polymorphisms revealed TPMT *3A/*3C.
Açıklama
Anahtar Kelimeler
Hematoloji, Pediatri
Kaynak
Turkish Journal of Hematology
WoS Q Değeri
Scopus Q Değeri
Cilt
31
Sayı
4
