2013
DOI: 10.1038/labinvest.2013.43
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Extracellular domain c-kit mutation with duplication of Ser501Ala502 found in gastrointestinal stromal tumors is more imatinib- and nilotinib-sensitive than that with duplication of Ala502Tyr503

Abstract: The great majority of gastrointestinal stromal tumors (GISTs) have gain-of-function mutations of the c-kit gene, which encodes KIT receptor tyrosine kinase. Most of the mutations are located at exon 11, but some are at exon 9 or at other exons. Mutation types at exon 11 vary, while most mutations at exon 9 are a particular duplication of Ala502Tyr503 (KIT-Dup-Ala502Tyr503). Recently a duplication of Ser501Ala502 (KIT-Dup-Ser501Ala502) at exon 9 has been reported in two cases of pediatric mastocytosis and one c… Show more

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Cited by 3 publications
(2 citation statements)
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“…It would greatly complicate this review's data presentation if they were further subdivided by precise imatinib dose. The only variants which have thus far been reported to vary in sensitivity to different 9 doses/concentrations of imatinib are those residing in KIT exon 9 [7,8,20].…”
Section: Discussionmentioning
confidence: 99%
“…It would greatly complicate this review's data presentation if they were further subdivided by precise imatinib dose. The only variants which have thus far been reported to vary in sensitivity to different 9 doses/concentrations of imatinib are those residing in KIT exon 9 [7,8,20].…”
Section: Discussionmentioning
confidence: 99%
“…Недавно в 2 ГИСО обнаружена дупликация S501-A502, ранее описанная у детей с мастоцитозом или при лейкозе тучных клеток. ГИСО с дуплика-цией S501-A502 более чувствительны к иматинибу и нилотинибу, чем опухоли с дупликацией A502-Y503 [59].…”
Section: мутации гена Kitunclassified