Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review

<b>Background/Objectives:</b> Irinotecan is used in monotherapy or combined with other drugs for treating different cancer streams. SN-38, the active metabolite of irinotecan, is 70% inactivated by the uridine diphosphate (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1) enzyme....

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Main Authors: Xando Díaz-Villamarín, María Teresa Nieto-Sánchez, María Martínez-Pérez, Paula Novo-González, Emilio Fernández-Varón, Alicia Torres-García, Beatriz González Astorga, Isabel Blancas, José Cabeza-Barrera, Rocío Morón
Format: Article
Language:English
Published: MDPI AG 2025-04-01
Series:Pharmaceutics
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Online Access:https://www.mdpi.com/1999-4923/17/5/542
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author Xando Díaz-Villamarín
María Teresa Nieto-Sánchez
María Martínez-Pérez
Paula Novo-González
Emilio Fernández-Varón
Alicia Torres-García
Beatriz González Astorga
Isabel Blancas
José Cabeza-Barrera
Rocío Morón
author_facet Xando Díaz-Villamarín
María Teresa Nieto-Sánchez
María Martínez-Pérez
Paula Novo-González
Emilio Fernández-Varón
Alicia Torres-García
Beatriz González Astorga
Isabel Blancas
José Cabeza-Barrera
Rocío Morón
author_sort Xando Díaz-Villamarín
collection DOAJ
description <b>Background/Objectives:</b> Irinotecan is used in monotherapy or combined with other drugs for treating different cancer streams. SN-38, the active metabolite of irinotecan, is 70% inactivated by the uridine diphosphate (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1) enzyme. The <i>UGT1A1</i>*6 (rs4148323) and <i>*28</i> (rs3064744) alleles in the gene encoding the enzyme lead to decreased enzyme expression and increased severe irinotecan toxicity. Carrying one or two copies of these alleles results in a UGT1A1 intermediate or poor metabolizer status (IM, PM). The Food and Drug Administration (FDA)-approved drug labels and European Medicines Agency (EMA) European Public Assessment Report (EPAR) for irinotecan recommend dose adjustments based on <i>UGT1A1</i> genotypes, but only for UGT1A1 PM patients. However, available pharmacogenetic (PGx) dosing guidelines for the <i>UGT1A1</i>–irinotecan interaction lack a consensus about considered genetic variants, genotype-translated phenotypes, and therapeutic recommendations. We aimed to describe evidence regarding the impact of the <i>UGT1A1</i> genotype in irinotecan toxicity to inform irinotecan-dosing recommendations based on possible <i>UGT1A1</i> genotypes. <b>Methods</b>: A systematic review was performed to find all the Phase I clinical trials looking for the maximum tolerated dose (MTD) or dose-limiting toxicities (DLTs) of irinotecan depending on the <i>UGT1A1</i> genotype. <b>Results</b>: Toxicity-related events and the MTD of irinotecan differ among UGT1A1 normal metabolizers (NM), IM, and PM patients considering the <i>UGT1A1*28</i> and/or *<i>6</i> variants. <b>Conclusions</b>: Dose adjustments might also be recommended for UGT1A1 IM patients (*<i>1/*28</i> or <i>*1/*6</i> genotypes), with a 15% dose reduction considered.
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spelling doaj-art-46febf32f5444324b548d72b22fb164c2025-08-20T01:56:38ZengMDPI AGPharmaceutics1999-49232025-04-0117554210.3390/pharmaceutics17050542Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic ReviewXando Díaz-Villamarín0María Teresa Nieto-Sánchez1María Martínez-Pérez2Paula Novo-González3Emilio Fernández-Varón4Alicia Torres-García5Beatriz González Astorga6Isabel Blancas7José Cabeza-Barrera8Rocío Morón9Instituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainHospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, SpainHospital Pharmacy, Hospital Universitario San Cecilio, 18016 Granada, SpainHospital Pharmacy, Hospital Regional Severo Ochoa, 28914 Leganés, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, SpainInstituto de Investigación Biosanitaria de Granada (Ibs. Granada), 18012 Granada, Spain<b>Background/Objectives:</b> Irinotecan is used in monotherapy or combined with other drugs for treating different cancer streams. SN-38, the active metabolite of irinotecan, is 70% inactivated by the uridine diphosphate (UDP) glucuronosyltransferase family 1 member A1 (UGT1A1) enzyme. The <i>UGT1A1</i>*6 (rs4148323) and <i>*28</i> (rs3064744) alleles in the gene encoding the enzyme lead to decreased enzyme expression and increased severe irinotecan toxicity. Carrying one or two copies of these alleles results in a UGT1A1 intermediate or poor metabolizer status (IM, PM). The Food and Drug Administration (FDA)-approved drug labels and European Medicines Agency (EMA) European Public Assessment Report (EPAR) for irinotecan recommend dose adjustments based on <i>UGT1A1</i> genotypes, but only for UGT1A1 PM patients. However, available pharmacogenetic (PGx) dosing guidelines for the <i>UGT1A1</i>–irinotecan interaction lack a consensus about considered genetic variants, genotype-translated phenotypes, and therapeutic recommendations. We aimed to describe evidence regarding the impact of the <i>UGT1A1</i> genotype in irinotecan toxicity to inform irinotecan-dosing recommendations based on possible <i>UGT1A1</i> genotypes. <b>Methods</b>: A systematic review was performed to find all the Phase I clinical trials looking for the maximum tolerated dose (MTD) or dose-limiting toxicities (DLTs) of irinotecan depending on the <i>UGT1A1</i> genotype. <b>Results</b>: Toxicity-related events and the MTD of irinotecan differ among UGT1A1 normal metabolizers (NM), IM, and PM patients considering the <i>UGT1A1*28</i> and/or *<i>6</i> variants. <b>Conclusions</b>: Dose adjustments might also be recommended for UGT1A1 IM patients (*<i>1/*28</i> or <i>*1/*6</i> genotypes), with a 15% dose reduction considered.https://www.mdpi.com/1999-4923/17/5/542irinotecan<i>UGT1A1</i>maximum tolerated dosepharmacogeneticspharmacogenomicpersonalized medicine
spellingShingle Xando Díaz-Villamarín
María Teresa Nieto-Sánchez
María Martínez-Pérez
Paula Novo-González
Emilio Fernández-Varón
Alicia Torres-García
Beatriz González Astorga
Isabel Blancas
José Cabeza-Barrera
Rocío Morón
Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
Pharmaceutics
irinotecan
<i>UGT1A1</i>
maximum tolerated dose
pharmacogenetics
pharmacogenomic
personalized medicine
title Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
title_full Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
title_fullStr Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
title_full_unstemmed Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
title_short Dose-Limiting Toxicities and the Maximum Tolerated Dose of Irinotecan Based on <i>UGT1A1</i> Genotypes: A Systematic Review
title_sort dose limiting toxicities and the maximum tolerated dose of irinotecan based on i ugt1a1 i genotypes a systematic review
topic irinotecan
<i>UGT1A1</i>
maximum tolerated dose
pharmacogenetics
pharmacogenomic
personalized medicine
url https://www.mdpi.com/1999-4923/17/5/542
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