Novel NUDT15 germline variant in acute lymphoblastic leukaemia â Increase susceptibility to mercaptopurine toxicity responsible for relapse and severe life threatening sepsis: A case report
| Autor: | Shweta Bansal, Vikram Gota, Bharati Shriyan, Prajakta Sanap |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology medicine.medical_specialty Genome-wide association study Disease Germline 03 medical and health sciences 0302 clinical medicine Germline mutation Internal medicine medicine Clinical significance Thiopurine methyltransferase biology business.industry lcsh:RJ1-570 lcsh:Pediatrics Hematology Mercaptopurine 030104 developmental biology 030220 oncology & carcinogenesis Pediatrics Perinatology and Child Health Immunology biology.protein business Pharmacogenetics medicine.drug |
| Zdroj: | Pediatric Hematology Oncology Journal, Vol 2, Iss 3, Pp 65-67 (2017) |
| ISSN: | 2468-1245 |
| Popis: | Acute lymphoblastic leukaemia (ALL) has become one of most curable malignancies among all childhood cancers. Such results are possible because of improved understanding of the biology and pathophysiology of the disease with discovery of novel mutations effecting the pharmacodynamics of the drugs. One of the important drug used in ALL treatment is mercaptopurine (6-MP). Implementation of TPMT polymorphisms in 6-MP dose regime in acute lymphoblastic leukaemia (ALL) is an epitome of pharmacogenetic evidence based clinical practice in oncology. Recent advances in genome wide associations studies (GWAS) have unearthed more germline mutations, notable among which is a polymorphism (rs116855232) in the NUDT15 gene. Several cohorts of Asian population have reported a higher frequency of this mutation as compared to the TPMT mutations, necessitating more research into the clinical significance of this particular genetic variation. |
| Databáze: | OpenAIRE |
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