{"id":"https://openalex.org/W4414532602","doi":"https://doi.org/10.1055/s-0045-1811935","title":"Prevalence and Impact of TPMT and NUDT15 Gene Polymorphisms on Consolidation Phase Chemotherapy in Pediatric ALL","display_name":"Prevalence and Impact of TPMT and NUDT15 Gene Polymorphisms on Consolidation Phase Chemotherapy in Pediatric ALL","publication_year":2025,"publication_date":"2025-09-23","ids":{"openalex":"https://openalex.org/W4414532602","doi":"https://doi.org/10.1055/s-0045-1811935"},"language":"en","primary_location":{"id":"doi:10.1055/s-0045-1811935","doi":"https://doi.org/10.1055/s-0045-1811935","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0045-1811935","pdf_url":null,"source":{"id":"https://openalex.org/S112025928","display_name":"Indian Journal of Medical and Paediatric Oncology","issn_l":"0971-5851","issn":["0971-5851","0975-2129"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Medical and Paediatric Oncology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.1055/s-0045-1811935","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5066553938","display_name":"Abhilasha Ashok Sampagar","orcid":"https://orcid.org/0000-0001-8604-4167","observed_orcids":["https://orcid.org/0000-0001-8604-4167"]},"institutions":[{"id":"https://openalex.org/I4210104297","display_name":"Jawaharlal Nehru Medical College","ror":"https://ror.org/01a4d6k20","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]},{"id":"https://openalex.org/I4210125823","display_name":"KLE Academy of Higher Education and Research","ror":"https://ror.org/03aam9155","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210125823"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Abhilasha S.","raw_affiliation_strings":["Department of Medical Oncology, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India"],"raw_orcid":"https://orcid.org/0000-0001-8604-4167","affiliations":[{"raw_affiliation_string":"Department of Medical Oncology, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India","institution_ids":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043887074","display_name":"Niranjana S. Mahantashetti","orcid":"https://orcid.org/0000-0002-6961-4073","observed_orcids":["https://orcid.org/0000-0002-6961-4073"]},"institutions":[{"id":"https://openalex.org/I4210104297","display_name":"Jawaharlal Nehru Medical College","ror":"https://ror.org/01a4d6k20","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]},{"id":"https://openalex.org/I4210125823","display_name":"KLE Academy of Higher Education and Research","ror":"https://ror.org/03aam9155","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210125823"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Niranjana Mahantashetti","raw_affiliation_strings":["Department of Pediatrics, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India","institution_ids":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114727140","display_name":"K. Hershavardhini","orcid":"https://orcid.org/0009-0004-3794-2592","observed_orcids":["https://orcid.org/0009-0004-3794-2592"]},"institutions":[{"id":"https://openalex.org/I4210104297","display_name":"Jawaharlal Nehru Medical College","ror":"https://ror.org/01a4d6k20","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]},{"id":"https://openalex.org/I4210125823","display_name":"KLE Academy of Higher Education and Research","ror":"https://ror.org/03aam9155","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210125823"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Hershavardhini K.","raw_affiliation_strings":["Department of Pediatrics, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Jawaharlal Nehru Medical College, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India","institution_ids":["https://openalex.org/I4210104297","https://openalex.org/I4210125823"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104632050","display_name":"Ashwini Doddannavar","orcid":"https://orcid.org/0000-0001-8555-1837","observed_orcids":["https://orcid.org/0000-0001-8555-1837"]},"institutions":[{"id":"https://openalex.org/I4210125823","display_name":"KLE Academy of Higher Education and Research","ror":"https://ror.org/03aam9155","country_code":"IN","type":"education","lineage":["https://openalex.org/I4210125823"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ashwini Doddannavar","raw_affiliation_strings":["Department of Pharmacy Practice, KLE College of Pharmacy, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacy Practice, KLE College of Pharmacy, KLE Academy of Higher Education & Research, Belagavi, Karnataka, India","institution_ids":["https://openalex.org/I4210125823"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Vibha Bafna","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I887998513","display_name":"Bharati Vidyapeeth (Deemed to be University)","ror":"https://ror.org/0052mmx10","country_code":"IN","type":"education","lineage":["https://openalex.org/I887998513"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Vibha Bafna","raw_affiliation_strings":["Department of Pediatrics, Bharati Vidyapeeth Deemed University, Pune, Maharashtra, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Bharati Vidyapeeth Deemed University, Pune, Maharashtra, India","institution_ids":["https://openalex.org/I887998513"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5025182774","display_name":"Sandip P. Bartakke","orcid":"https://orcid.org/0000-0002-6319-8750","observed_orcids":["https://orcid.org/0000-0002-6319-8750"]},"institutions":[{"id":"https://openalex.org/I887998513","display_name":"Bharati Vidyapeeth (Deemed to be University)","ror":"https://ror.org/0052mmx10","country_code":"IN","type":"education","lineage":["https://openalex.org/I887998513"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Sandip Bartakke","raw_affiliation_strings":["Department of Pediatrics, Bharati Vidyapeeth Deemed University, Pune, Maharashtra, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Bharati Vidyapeeth Deemed University, Pune, Maharashtra, India","institution_ids":["https://openalex.org/I887998513"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6228,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.61489888,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":95},"biblio":{"volume":"47","issue":"05","first_page":"392","last_page":"398"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.7089999914169312,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.7089999914169312,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10375","display_name":"Pharmacogenetics and Drug Metabolism","score":0.27810001373291016,"subfield":{"id":"https://openalex.org/subfields/3004","display_name":"Pharmacology"},"field":{"id":"https://openalex.org/fields/30","display_name":"Pharmacology, Toxicology and Pharmaceutics"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12845","display_name":"Methemoglobinemia and Tumor Lysis Syndrome","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/acute-lymphoblastic-leukemia","display_name":"acute lymphoblastic leukemia","score":0.925000011920929},{"id":"https://openalex.org/keywords/pediatric-leukemia","display_name":"pediatric leukemia","score":0.765999972820282},{"id":"https://openalex.org/keywords/tpmt-polymorphism","display_name":"TPMT polymorphism","score":0.7689999938011169},{"id":"https://openalex.org/keywords/thiopurine-methyltransferase","display_name":"thiopurine S-methyltransferase","score":0.968999981880188},{"id":"https://openalex.org/keywords/6-mercaptopurine","display_name":"6-mercaptopurine","score":0.9480000138282776},{"id":"https://openalex.org/keywords/consolidation-chemotherapy","display_name":"consolidation chemotherapy","score":0.75},{"id":"https://openalex.org/keywords/chemotherapy-toxicity","display_name":"chemotherapy toxicity","score":0.5379999876022339},{"id":"https://openalex.org/keywords/febrile-neutropenia","display_name":"febrile neutropenia","score":0.9850000143051147},{"id":"https://openalex.org/keywords/treatment-delay","display_name":"treatment delay","score":0.6430000066757202},{"id":"https://openalex.org/keywords/pharmacogenetics","display_name":"pharmacogenetics","score":0.6930000185966492},{"id":"https://openalex.org/keywords/genetic-screening","display_name":"genetic screening","score":0.5400000214576721},{"id":"https://openalex.org/keywords/north-karnataka","display_name":"North Karnataka","score":0.7300000190734863}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7148000001907349},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5478000044822693},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.49390000104904175},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.4528999924659729},{"id":"https://openalex.org/C2776694085","wikidata":"https://www.wikidata.org/wiki/Q974135","display_name":"Chemotherapy","level":2,"score":0.44359999895095825},{"id":"https://openalex.org/C2776014549","wikidata":"https://www.wikidata.org/wiki/Q3050847","display_name":"Consolidation (business)","level":2,"score":0.34459999203681946},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.31349998712539673},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.30730000138282776},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.2903999984264374},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.28679999709129333},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.2793000042438507},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.27549999952316284},{"id":"https://openalex.org/C149737253","wikidata":"https://www.wikidata.org/wiki/Q3240252","display_name":"Polymorphism (computer science)","level":4,"score":0.2540000081062317},{"id":"https://openalex.org/C68873052","wikidata":"https://www.wikidata.org/wiki/Q349856","display_name":"Genetic variation","level":3,"score":0.2508000135421753}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1055/s-0045-1811935","doi":"https://doi.org/10.1055/s-0045-1811935","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0045-1811935","pdf_url":null,"source":{"id":"https://openalex.org/S112025928","display_name":"Indian Journal of Medical and Paediatric Oncology","issn_l":"0971-5851","issn":["0971-5851","0975-2129"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Medical and Paediatric Oncology","raw_type":"journal-article"},{"id":"pmh:oai:doaj.org/article:693d2bdbd9a240c4a8db62628b2224fb","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/693d2bdbd9a240c4a8db62628b2224fb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Indian Journal of Medical and Paediatric Oncology, Vol 47, Iss 05, Pp 392-398 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1055/s-0045-1811935","doi":"https://doi.org/10.1055/s-0045-1811935","is_oa":true,"landing_page_url":"https://doi.org/10.1055/s-0045-1811935","pdf_url":null,"source":{"id":"https://openalex.org/S112025928","display_name":"Indian Journal of Medical and Paediatric Oncology","issn_l":"0971-5851","issn":["0971-5851","0975-2129"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","poland-40","russia-white-list-4"],"host_organization":"https://openalex.org/P4310320000","host_organization_name":"Thieme Medical Publishers (Germany)","host_organization_lineage":["https://openalex.org/P4310320000"],"host_organization_lineage_names":["Thieme Medical Publishers (Germany)"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian Journal of Medical and Paediatric Oncology","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W2077241764","https://openalex.org/W2127516396","https://openalex.org/W2127752492","https://openalex.org/W2402900764","https://openalex.org/W2759645554","https://openalex.org/W2769243422","https://openalex.org/W2901532884","https://openalex.org/W2963843897","https://openalex.org/W3164162829","https://openalex.org/W4210295748","https://openalex.org/W4289525431","https://openalex.org/W4387357155","https://openalex.org/W4391683374"],"related_works":["https://openalex.org/W4403554444","https://openalex.org/W4213291693","https://openalex.org/W4212939323","https://openalex.org/W2949762856","https://openalex.org/W2963843897","https://openalex.org/W7135023894","https://openalex.org/W4417019327","https://openalex.org/W3136511896","https://openalex.org/W3201946015","https://openalex.org/W3193897656"],"abstract_inverted_index":{"Abstract":[0],"Acute":[1],"lymphoblastic":[2],"leukemia":[3],"(ALL)":[4],"is":[5,35],"the":[6,54,87,109,121,144,151,158,189,296],"most":[7],"frequently":[8],"occurring":[9],"cancer":[10],"in":[11,26,32,68,96,198,204,243,249],"children,":[12],"with":[13,99,114,131,212,228],"cure":[14],"rates":[15],"exceeding":[16],"90%.":[17],"The":[18,45,183,236],"consolidation":[19,283],"phase":[20,34],"(CP)":[21],"plays":[22],"a":[23,174,229],"vital":[24],"role":[25],"lowering":[27],"relapse":[28],"rates.":[29],"However,":[30],"chemotherapy":[31,115],"this":[33,244],"commonly":[36],"delayed":[37,161],"due":[38],"to":[39,42,73,85,107,258],"toxicities":[40,119,289],"related":[41,118],"6-mercaptopurine":[43],"(6-MP).":[44],"metabolism":[46],"of":[47,89,111,146,160,165,176,208,220,238],"6-MP":[48,153],"depends":[49],"on":[50],"enzymes":[51],"encoded":[52],"by":[53],"thiopurine":[55],"S-methyltransferase":[56],"(TPMT)":[57],"and":[58,79,92,117,137,170,188,200,206,223,240,262,271,288],"nucleoside":[59],"diphosphate":[60],"(NUDT15)":[61],"(nudix":[62],"hydrolase":[63],"15)":[64],"genes.":[65],"Inherited":[66],"variations":[67],"these":[69,112],"genes":[70],"are":[71],"known":[72],"impact":[74],"drug":[75],"metabolism,":[76],"affecting":[77],"effectiveness":[78],"toxicity.":[80],"This":[81,123],"study":[82],"was":[83,140,186,192,246],"conducted":[84],"determine":[86],"prevalence":[88],"notable":[90],"TPMT":[91,136,201,239,270],"NUDT15":[93,138,199,241],"gene":[94,254],"variants":[95,255],"pediatric":[97],"patients":[98,128,180],"ALL":[100],"from":[101],"North":[102],"Karnataka.":[103],"It":[104],"also":[105],"aimed":[106],"evaluate":[108],"association":[110],"polymorphisms":[113],"interruptions":[116],"during":[120,156,265],"CP.":[122,266],"longitudinal":[124],"analysis":[125,274],"included":[126,150],"106":[127,179],"newly":[129],"diagnosed":[130],"ALL.":[132],"Genetic":[133],"screening":[134],"for":[135],"mutations":[139,214,242],"carried":[141],"out":[142],"before":[143],"initiation":[145],"treatment.":[147],"Data":[148],"collected":[149],"total":[152],"dose":[154],"administered":[155],"CP,":[157],"number":[159],"treatment":[162,260],"days,":[163],"frequency":[164,237],"febrile":[166],"neutropenia":[167],"(FN)":[168],"episodes,":[169,227],"their":[171],"duration.":[172],"Over":[173],"period":[175],"2.5":[177],"years,":[178],"were":[181,202,256],"enrolled.":[182],"male-to-female":[184],"ratio":[185],"1.52,":[187],"average":[190,217],"age":[191],"7.19":[193],"\u00b1":[194],"4.08":[195],"years.":[196],"Variants":[197],"found":[203],"24.5":[205],"3.77%":[207],"cases,":[209],"respectively.":[210],"Those":[211],"genetic":[213],"had":[215],"an":[216],"CP":[218],"delay":[219],"13.5":[221],"days":[222],"experienced":[224],"more":[225],"FN":[226],"statistically":[230],"significant":[231],"difference":[232],"(p":[233],"=":[234],"0.002).":[235],"group":[245],"higher":[247],"than":[248],"previous":[250],"Indian":[251],"reports.":[252],"These":[253],"linked":[257],"longer":[259],"delays":[261,284],"increased":[263],"toxicity":[264],"We":[267],"propose":[268],"that":[269,282],"NUDT":[272],"polymorphism":[273],"should":[275],"be":[276,286,291],"performed":[277],"upfront":[278],"at":[279],"diagnosis,":[280],"so":[281],"can":[285,290],"minimized":[287],"reduced,":[292],"which":[293],"may":[294],"improve":[295],"overall":[297],"outcome.":[298]},"counts_by_year":[{"year":2026,"cited_by_count":1}],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2025-09-26T00:00:00"}