PTEN Promoter hypermethylation is associated with breslow thickness in acral melanoma on the heel, forefoot, and hallux

Hae Seok Park, Jong Hoon Kim, Mi Yeon Cho, Kee Yang Chung, Mi Ryung Roh

Research output: Contribution to journalArticlepeer-review


Background: Acral melanoma occurs on glabrous skin or the nail apparatus and is distinct from ultraviolet-related melanoma due to differing genetic alteration patterns. Although the pathogenesis of acral melanoma is not well understood, mechanical stress is thought to induce acral melanoma. The incidence of gene mutation and promoter methylation has been reported in tumors from acral melanoma; however, an association between genetic/epigenetic alterations and mechanical stress in acral melanoma remains unclear. Objective: To investigate the relationship between clinical/genetic factors and mechanical stress in acral melanoma. Methods: A retrospective review of 52 patients diagnosed with acral melanoma was performed. We reviewed the clinical characteristics of patients, tumor status, and tumor location. Mutations in BRAF, NRAS, and the TERT promoter, along with KIT amplification and PTEN promoter methylation were analyzed in the tumors. Results: The heel (34/52, 65.4%) was the most common anatomical tumor site. Mutations in BRAF (6/48, 12.5%), NRAS (6/49, 12.2%), and the TERT promoter (4/33, 12.1%), along with KIT amplification (3/37, 8.1%) and PTEN promoter hypermethylation (12/48, 25.0%) were observed in the tumors. On the forefoot, heel, and hallux, PTEN promoter hypermethylation was significantly associated with Breslow thickness (p=0.001) and ulceration rate (p= 0.042). On the midfoot and lesser toes, there was no significant difference in Breslow thickness or ulceration rate regardless of PTEN promoter hypermethylation (p > 0.05). Conclusion: PTEN promoter hypermethylation is associated with Breslow thickness and tumor ulceration on the forefoot, heel, and hallux in acral melanoma in Korean patients.

Original languageEnglish
Pages (from-to)18-25
Number of pages8
JournalAnnals of Dermatology
Issue number1
Publication statusPublished - 2021 Feb

Bibliographical note

Funding Information:
This work was supported by a National Research Foundation of Korea (NRF) grant funded by the Korea government (MSIT) (No. 2017R1C1B2005574).

Publisher Copyright:
© 2020 The Korean Dermatological Association and The Korean Society for Investigative Dermatology.

All Science Journal Classification (ASJC) codes

  • Dermatology


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