2020年4月
Genotype and phenotype analysis of patients with pediatric cutaneous mastocytosis, especially wild-type KIT patients.
The Journal of dermatology
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- 巻
- 47
- 号
- 4
- 開始ページ
- 426
- 終了ページ
- 429
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1111/1346-8138.15266
- 出版者・発行元
- WILEY
Pediatric cutaneous mastocytosis (CM) is mainly attributed to gain-of-function mutations in KIT in mast cells. On the other hand, growing evidence suggests that CM patients exist without KIT mutations. To date, the association between the KIT mutation status and clinical phenotype has not been elucidated in pediatric CM, especially in patients with wild-type KIT. Nevertheless, genetic analysis has yet to be performed with whole KIT sequence of mast cells in Japanese patients with pediatric CM. In the present study, 11 Japanese patients with pediatric CM were analyzed to determine whether they had KIT mutations in their skin, and their clinical phenotypes were observed. The approximate frequency of patients with KIT mutation and that of wild-type KIT was almost consistent with the European analysis. The distribution of overall macules was similar between the patients with and without KIT mutations.
- リンク情報
- ID情報
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- DOI : 10.1111/1346-8138.15266
- ISSN : 0385-2407
- eISSN : 1346-8138
- PubMed ID : 32077120
- Web of Science ID : WOS:000514391200001