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Journals / Turkish Journal of Hematology / 2014 / Cilt: 31 - Sayı: 4

Severe Myelotoxicity Associated with Thiopurine S-Methyltransferase*3A/*3C Polymorphisms in a Patient with Pediatric Leukemia and the Effect of Steroid Therapy

Pediatrik Bir Lösemi Olgusunda Tiyopurin S-Metiltransferaz *3A/*3C Polimorfizmi ile İlişkili Ağır Miyelotoksisite-Steroid Tedavisinin Etkisi

FATMA BURCU BELEN APAK
Türkiz GÜRSEL
Nalan AKYÜREK
MERYEM ALBAYRAK
ZÜHRE KAYA
Ülker KOÇAK
Pages
399–402
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Analysis of common TPMT polymorphisms revealed TPMT *3A/*3C.

📌 3 Key Takeaways

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Objective & Hypothesis: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.
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Key Findings & Data:Mutations in the thiopurine S-methyltransferase (TPMT) gene causing excessive myelosuppression during 6-mercaptopurine (MP) therapy may cause excessive bone marrow toxicity.
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Conclusion & Impact:Analysis of common TPMT polymorphisms revealed TPMT *3A/*3C.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

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.

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.

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Cite This Article

APAK, F. B. B., GÜRSEL, T., AKYÜREK, N., ALBAYRAK, M., KAYA, Z., KOÇAK, Ü. (2014). Severe Myelotoxicity Associated with Thiopurine S-Methyltransferase*3A/*3C Polymorphisms in a Patient with Pediatric Leukemia and the Effect of Steroid Therapy. Turkish Journal of Hematology, Cilt: 31 - Sayı: 4, 399–402. https://ajindex.com/articles/413129

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