巯基嘌呤,临床注释-2,变异和临床注释数据

巯基嘌呤

临床注释ID

1184648909

药物名称(英)

mercaptopurine

变异单倍型

TPMT*1, TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C, TPMT*4, TPMT*6, TPMT*9, TPMT*12

基因

TPMT

证据级别

水平覆盖

水平修饰符

Tier 1 VIP

表现型类别(英)

Toxicity

表现型类别

毒性

分数

225.625

PMID计数

计数的证据

表现型

表现型(英)

最新日期

2022/4/13 0:00:00

URL

https://www.pharmgkb.org/clinicalAnnotation/1184648909

专业人口(英)

Pediatric

专业人口

儿科

临床等位基因

id	等位基因	注释文本
1091	*12	The TPMT12 allele is assigned as a no function allele by DPWG. Patients with the 12 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Note that CPIC assigned TPMT*12 as an uncertain function allele. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1090	*9	The TPMT9 allele is assigned as a no function allele by DPWG. Patients with the 9 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Note that CPIC assigned TPMT*9 as an uncertain function allele. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1089	*6	The TPMT6 allele has been assigned as a no function allele by the DPWG. Patients with the 6 allele in combination with a normal function allele may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Note that CPIC assigned TPMT*6 as an uncertain function allele. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1088	*4	The TPMT4 allele is assigned as a no function allele by CPIC. Patients with the 4 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1087	*3C	The TPMT3C allele is assigned as a no function allele by CPIC. Patients with the TPMT3C allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1086	*3B	The TPMT3B allele is assigned as a no function allele by CPIC. Patients with the TPMT3B allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1085	*3A	The TPMT3A allele is assigned as a no function allele by CPIC. Patients with the TPMT3A allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1084	*2	The TPMT2 allele is assigned as a no function allele by CPIC. Patients with the TPMT2 allele, in combination with a normal function allele or a no function allele, may have an increased likelihood of toxicity when treated with mercaptopurine as compared to patients with two normal function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.
1083	*1	The TPMT1 allele is assigned as a normal allele by CPIC. Patients carrying the TPMT1 allele in combination with another normal function allele may have decreased likelihood of toxicity when treated with mercaptopurine as compared to patients with one or two no function alleles. However, conflicting evidence has been reported. Other genetic and clinical factors may also influence mercaptopurine toxicity.

临床证据

id	证据的ID	总结
2038	1351431664	TPMT 1/2 + 1/3A + 1/3C + 1/9 + 1/21 + 1/33 + 1/34 are associated with increased risk of Neutropenia and Thrombocytopenia when treated with mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2037	1358207197	TPMT 1/3C is associated with Thrombocytopenia when treated with mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2036	1355779542	TPMT 1/3A is associated with Neutropenia and Thrombocytopenia when treated with mercaptopurine or thioguanine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2035	1449161632	TPMT 3C is not associated with Drug Toxicity when treated with azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases as compared to TPMT 1.
2034	1449161615	TPMT 6 is not associated with Drug Toxicity when treated with azathioprine or mercaptopurine in people with Inflammatory Bowel Diseases as compared to TPMT 1.
2033	1448576485	TPMT 1/2 + 1/3A are associated with increased risk of Leukopenia when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2032	1448268166	TPMT 3A + 3C is associated with increased likelihood of Leukopenia and Neutropenia when treated with azathioprine or mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2031	1448261284	TPMT 1/3C is not associated with risk of Leukopenia when treated with azathioprine or mercaptopurine in people with Crohn Disease as compared to TPMT 1/1.
2030	1448256046	TPMT 1/3A is associated with increased risk of Hematologic Diseases when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2029	1184642842	TPMT *2 is associated with increased risk of Drug Toxicity when treated with mercaptopurine in people with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2028	1184518693	TPMT 1/3A + 1/3C + 3A/3A are associated with increased likelihood of tolerance of mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2027	1184467028	TPMT 3A/3A is associated with severe pancytopenia when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2026	1184467021	TPMT 3A/3C is associated with severe pancytopenia when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2025	1184349470	TPMT 1/3A + 3A/3A + 1/3C + 3C/3C is not associated with increased likelihood of pancreatitis when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2024	1184349446	TPMT 1/3A + 3A/3A + 1/3C + 3C/3C is not associated with increased likelihood of hepatotoxicity when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2023	1184349431	TPMT 1/3A + 3A/3A + 1/3C + 3C/3C is associated with increased likelihood of Bone Marrow toxicity when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2022	1184349368	TPMT 1/3A + 3A/3A + 1/3C + 3C/3C is associated with increased likelihood of overall ADRs when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2021	1184348606	TPMT 3A/3A is associated with severe hematological toxicity when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2020	1184348445	TPMT 1/3A is associated with myelotoxicity when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2019	1184278692	TPMT 1/3C is associated with increased risk of severe leukopenia when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2018	1184233729	TPMT 1/3C is associated with increased risk of leukopenia when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2017	1184233422	TPMT 1/2 + 1/3A + 1/3C is associated with increased likelihood of hematological toxicity when treated with mercaptopurine or purine analogues in people with Leukemia as compared to TPMT 1/1.
2016	1184169875	TPMT 1/3A is associated with increased likelihood of Drug Toxicity, Infection and Stomatitis when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2015	1184169693	TPMT 3A/3C is associated with increased risk of neutropenia and infections when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2014	1184169687	TPMT 1/3C is associated with increased risk of neutropenia and infections when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2013	1184169661	TPMT 1/3A is associated with increased risk of neutropenia and infections when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2012	1184134359	TPMT 1/2 + 1/3A + 3A/3B is associated with increased risk of leukopenia when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1/1.
2011	1184134311	TPMT 1/3A is associated with hepatic toxicity when treated with azathioprine, mercaptopurine or purine analogues in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2010	1184134111	TPMT 1/2 + 1/3A is not associated with likelihood of adverse events when treated with azathioprine, mercaptopurine or purine analogues in children with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2009	1184133979	TPMT 2 + 3A + 3B + 3C is not associated with likelihood of adverse events when treated with azathioprine, mercaptopurine or purine analogues in children with Inflammatory Bowel Diseases as compared to TPMT *1.
2008	978639710	TPMT 12 is associated with increased severity of Drug Toxicity when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to TPMT 1.
2007	1449749281	Genotype CT is not associated with increased likelihood of Leukopenia when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to genotype TT.
2006	1451106020	Allele C is associated with increased risk of Leukopenia when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.
2005	981239095	Allele C is associated with increased GI toxicity when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma as compared to allele T.
2004	1184407197	TPMT intermediate metabolizers is not associated with increased likelihood of specific adverse events when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to genotype 1/1.
2003	1444704973	TPMT intermediate metabolizer phenotype is not associated with increased severity of Drug Toxicity when treated with mercaptopurine and methotrexate in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2002	1184427832	TPMT poor metabolizer phenotype is associated with increased severity of myelosuppression when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
2001	1184407184	TPMT intermediate metabolizers is associated with increased likelihood of adverse events when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT 1/1.
2000	1184348822	TPMT poor metabolizer phenotype is associated with increased severity of hematological toxic effects when treated with mercaptopurine in children with Precursor Cell Lymphoblastic Leukemia-Lymphoma.
1999	1184233739	TPMT intermediate metabolizer phenotype is associated with decreased risk of leukopenia when treated with azathioprine, mercaptopurine or purine analogues in people with Inflammatory Bowel Diseases as compared to TPMT poor metabolizer phenotype.
1998	1184174068	TPMT intermediate metabolizer phenotype is associated with increased risk of mild leukopenia when treated with azathioprine, mercaptopurine or purine analogues as compared to TPMT normal metabolizer phenotype.
1997	1184174063	TPMT poor metabolizer phenotype is associated with increased risk of myelotoxicity when treated with azathioprine, mercaptopurine or purine analogues as compared to TPMT normal metabolizer phenotype.
1996	PA166104952	Annotation of DPWG Guideline for mercaptopurine and TPMT
1995	PA166104945	Annotation of CPIC Guideline for mercaptopurine and NUDT15, TPMT

临床病史

id	类型	评论
1570	Update	Added phenotype description for *6 allele
1569	Update	Added 9 and 12 and attached DPWG guideline
1568	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1567	Update	Removed VA on *12 as this is uncertain function allele and has a lower level CA.
1566	Update	Added CPIC function and modified text.
1565	Update	Attached CPIC guideline and removed override. Added gene name to text. Added conflicting evidence statement
1564	Update	Corrected to 1A
1563	Update	Replaced text with alleles in combination and changed decreased function to no function.
1562	Update	Restricted to just toxicity phenotypes. Dosing will be in a separate Clinical annotation.
1561	Update	Limited to mercaptopurine, removed in vitro activity VAs, leaving only dosage and toxicity.
1560	Update

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