Localised multiple spiradenomas are caused by somatic mosaicism in ALPK1 hotspot mutation

Spiradenocarcinomas, a rare skin adnexal tumour, are linked to the ALPK1 hotspot mutation. This study reveals that spiradenocarcinoma, accompanied by multiple localized spiradenomas, is caused by somatic mosaicism in the ALPK1 mutation hotspot.

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Published in:British journal of dermatology (1951) 2024-11
Main Authors: Hirano-Lotman, Yui, Ishida, Yoshihiro, Doi, Hiromi, Ogawa, Seishi, Kabashima, Kenji
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Language:English
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container_title British journal of dermatology (1951)
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creator Hirano-Lotman, Yui
Ishida, Yoshihiro
Doi, Hiromi
Ogawa, Seishi
Kabashima, Kenji
description Spiradenocarcinomas, a rare skin adnexal tumour, are linked to the ALPK1 hotspot mutation. This study reveals that spiradenocarcinoma, accompanied by multiple localized spiradenomas, is caused by somatic mosaicism in the ALPK1 mutation hotspot.
doi_str_mv 10.1093/bjd/ljae448
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title Localised multiple spiradenomas are caused by somatic mosaicism in ALPK1 hotspot mutation
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