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Mutations in acral melanoma identified by whole exome sequencing
( Dokyoung Yoon ),( Youngkyoung Lim ),( Dong-youn Lee ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.2
Background: There is limited research examining the different aspects of genetic alterations between nail apparatus melanoma (NAM) and non-nail acral melanoma (NNAM) Objectives: To uncover previously unidentified novel mutations for the acral melanoma patients and genomic differences between the NAM and the NNAM Methods: We performed whole-exome sequencing on DNA from 31 saliva samples and 31 tumor tissue samples from Korean AM patients pathologically confirmed at Samsung Medical Center (Seoul, Korea) from September 2016 to March 2019. Mutational profiles were compared between NAMs and NNAMs. Results: Prevalence of the detected well-known pathogenic mutations among the primary melanoma samples were BRAF V600E (16.13%), NRAS (9.68%), and KIT (3.23%). We also identified 53 genes that were repeatedly detected in AMs including BRAF, NRAS, CACMA1E, CDC27, CYP4F2, DDX11, and PCMTD1. 19 genes were predicted to be deleterious in developing melanomas including ANGPTL5, BRAF, CSMD3 and EHMT11 among repeatedly detected genes in AMs. Our results revealed several genes such as CSMD3, EHMT1, and MAGI1 were distinct mutations in the NAM. Conclusion: We identified the mutational landscape, genetic alterations, and differences of genetic backgrounds between NAM and NNAM in the Korean population. Because genetic backgrounds are different for NAM and NNAM, it is necessary to approach each disease in a separate way.
Segmental nevus spilus treated with combined use of multiple laser therapies
( Dokyoung Yoon ),( Hyun Jeong Byun ),( Chan Seong Park ),( Sewon Park ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1
Nevus spilus (NS) is characterized by numerous small, darkly pigmented macules or papules on a tan-pigmented background. This lesion is also referred as speckled lentiginous nevus, zosteriform lentiginous nevus, or spotty nevus. Darkly pigmented macules or papules can be a junctional nevus, compound nevus, Spitz nevus, or blue nevus. Treatment for NS has not been established yet and possibilities of developing melanomas in NS require long-term follow-up examinations in patients. Treatment trials with laser modalities have been widely reported as it may seriously affect one’s appearance. A 31-year old man presented with multiple brown-colored macules and papules on left mandible, neck, and chest. The patient previously had skin biopsy on the lesion and the results turned out benign nevus. He was otherwise healthy and eager to receive laser therapy for cosmetic issue. Total 6 sessions of combination of carbon dioxide (CO2) and 532nm Q-switched Nd-YAG (QSND) laser over a year on the dark pigmented macules and papules were conducted, which showed excellent response. For background tan-pigmented lesion, 1927nm tulium fractional laser was applied afterwards or simultaneously. For over 1 year follow up, no recurrences or aggravation of lesion was found. Herein, we report a case of segmental nevus spilus successfully treated with combinations of various laser modalities.
A case of pyoderma gangrenosum in a patient with ulcerative colitis on golimumab and vedolizumab
( Dokyoung Yoon ),( Hyun Jeong Byun ),( Se Jin Oh ),( Sewon Park ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.1
Pyoderma gangrenosum (PG) is a rare infiltrative neutrophilic dermatosis that characteristically presents with painful ulcers with undermined borders. Reports of development of inflammatory diseases, including psoriasis, pyoderma gangrenosum and dermatitis-like skin reactions with anti-tumor necrosis factor-α (TNF-α), are increasing. A 26-year old man presented with painful multiple pustular lesions with ulceration on face, scalp, and both legs for a week. The patient had second injection of Golimumab, which targets TNF-α, for ulcerative colitis 2 days before the skin eruption came up. Biopsy specimen showed diffuse infiltrate of lymphocytes, neutrophils, eosinophils and histiocytes with ulcer and granulation tissue. Laboratory results found that white blood cell count 18.1 x103/μL. Blood culture and skin cultures for bacteria, fungus, and mycobacterium showed no evidence of infection. Together with his clinical presentation, laboratory results, and biopsy, the patient was diagnosed with PG. The patient was treated with methylprednisolone, cefotaxime, and daily dressing change. Golimumab was stopped and the patient switched to Vedolizumab, anti-integrin α4β7 showing gut-selective anti-inflammatory activity. A month later, after his third injection of Vedolizumab, the patient presented with exacerbation of the skin lesion. Herein, we report a case of PG in an ulcerative colitis patient on Golimumab and Vedolizumab respectively.
Cutaneous adverse events of anti-PD-1 and anti-PD-L1 therapy
( Dokyoung Yoon ),( Hyun Jeong Byun ),( Chan Seong Park ),( Youngkyoung Lim ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ),( Ji-hye Park ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.2
Background: Anti-PD-1 and anti-PDL-1 therapy have been growing widely used as an effective treatment for various types of cancer by enhancing pre-existing immune responses to tumor cell. Objectives: We reviewed cutaneous adverse events (AEs) caused by anti-PD-1 and anti-PDL-1 therapy for facilitating dermatologists to immediate diagnosis and proper management. Methods: A retrospective study was conducted on patients referred to dermatology for skin lesion after treated with pembrolizumab, nivolumab, or atezolizumab from January 1st, 2015 to June 30th, 2018. Results: Of 1286 patients screened for the study, 33 patients (2.57%) were referred to dermatology with cutaneous AEs. 16 out of 675 patients (2.37%) showed cutaneous AEs after pembrolizumab therapy, 14 out of 562 patients (2.49%) did the same after nivolumab, and 3 out of 72 patients (4.17%) did the same after atezolizumab. 648 patients (50.43%) were treated for lung cancer, followed by 132 patients (10.27%) for melanoma. Of 33 patients with cutaneous AEs, 11 patients (33.33%) were with melanoma, followed by 10 patients (30.30%) were with lung cancer. In 12 types of cutaneous AEs observed, pruritic eruption (10 patients, 28.57%) was the most common cutaneous AE. The average onset was 21.79 weeks. Erythema multiforme, the earliest, took 7 weeks and nail change, the latest, took 52.33 weeks. Conclusion: Anti PD-1 and PDL-1 therapy can cause various cutaneous AEs that dermatologists are supposed to be aware of.
Affecting factors associated with response of anti-PD-1 therapy in melanoma
( Dokyoung Yoon ),( Donghwi Jang ),( Hyun Jeong Byun ),( Se Jin Oh ),( Youngkyoung Lim ),( Ji-hye Park ),( Jong Hee Lee ),( Dong-youn Lee ),( Joo-heung Lee ),( Jun-mo Yang ) 대한피부과학회 2019 대한피부과학회 학술발표대회집 Vol.71 No.2
Background: Anti-PD-1 therapy enhances pre-existing immune responses by directly blocking anti-programmed cell death receptor-1. Objectives: To determine the association between dermatologic side effect(SE) and oncologic response of anti-PD-1therapy and to investigate SEs of anti-PD- 1therapy. Methods: We retrospectively reviewed records on patients with melanoma referred to dermatology for skin lesion after treated with pembrolizumab and nivolumab from January 1st, 2015 to April 30th, 2019. To investigate the association between oncologic outcome and dermatologic SE, patients were divided into two groups; good response (complete remission, partial remission), poor response (stable disease, progressive disease). Results: Of 177 patients screened for the study, 14 patients were referred to dermatology with cutaneous SEs. Dermatologic SE includes acneiform eruption, keratoacanthoma, nail change, pruritic eruption, psoriatic eruption, urticarial eruption, and vitiligo. Mean age of all patients with or without dermatologic SE was 58. Though patients who had dermatologic side effect showed higher proportion in good response than that of patients without dermatologic side effect, it was not statistically significant. Conclusion: Various adverse events can occur after anti PD-1 therapy. Dermatologists are supposed to be aware of side-effect profile of the therapy to make sure prompt diagnosis and adequate management.
( Dokyoung Yoon ),( Hyun Jeong Byun ),( Se Jin Oh ),( Ji-hye Park ),( Dong-youn Lee ) 대한피부과학회 2020 Annals of Dermatology Vol.32 No.2
Drug-induced vasculitis is an inflammation of small-sized blood vessel caused by the use of drugs. It accounts for approximately 10% of acute cutaneous vasculitis. Propylthiouracil, hydralazine, and allopurinol have been widely known as causative agents. The most common clinical feature of drug-induced vasculitis is palpable purpura on lower extremities. A 66-year-old Korean female presented with erythematous nodules on upper chest and back. She had been on medication for multiple myeloma. Laboratory results showed neutropenia. After a single injection of filgrastim (recombinant granulocyte colony-stimulating factor), she developed cutaneous lesions with concurrent increase in absolute neutrophil count. A skin biopsy revealed leukocytoclastic vasculitis. After discontinuation of filgrastim injection, her skin lesions disappeared spontaneously. (Ann Dermatol 32(2) 164∼167, 2020)
흑색종 환자에서 면역관문 억제제 (Immune Checkpoint Inhibitor)의 효과에 대해 피부과적 부작용 및 영향을 미치는 인자들에 관한 분석: 단일 기관 후향적 연구
윤도경 ( Dokyoung Yoon ),오세진 ( Se Jin Oh ),김현제 ( Hyun Je Kim ),박지혜 ( Ji-hye Park ),이종희 ( Jong Hee Lee ),이동윤 ( Dong-youn Lee ),이주흥 ( Joo-heung Lee ) 대한피부과학회 2021 대한피부과학회지 Vol.59 No.4
Background: Programmed death 1 inhibitors enhance pre-existing immune responses by directly blocking anti-programmed cell death receptor-1. They have been widely used these days, but little is known about the dermatologic side effects and the factors affecting the response to therapy. Objective: To determine the association between dermatologic side effects and oncologic response to programmed death 1 inhibitors and to investigate the factors affecting the response to programmed death 1 inhibitors. Methods: We retrospectively reviewed the records of patients with melanoma who were referred to the dermatology department for their newly arising skin lesions after treatment with pembrolizumab and nivolumab from January 1, 2015, to April 30, 2019. The oncologic outcomes of the patients were determined by medical records from the hemato-oncology department. Sex, stage, dermatologic side effects, and age at the time of initial diagnosis were analyzed as the factors affecting oncologic outcomes. Progression-free survival was analyzed between the patients with and those without dermatologic side effects. Results: Of the 177 patients screened for the study, 14 were referred to the dermatology department for cutaneous side effects. There was no difference between the dermatologic side effect group and the non-dermatologic side effect group in terms of oncologic outcome and progression-free survival. Sex and stage significantly increased the risk of disease progression with pembrolizumab treatment. Conclusion: Although it has been reported that there could be a strong association between dermatologic side effects and oncologic outcomes, we were not able to reach the same conclusion among melanoma patients. (Korean J Dermatol 2021;59(4):251∼258)
( Sookkyung Lee ),( Dokyoung Yoon ),( Woojung Jin ),( Wooseok Jeong ) 대한피부과학회 2018 대한피부과학회 학술발표대회집 Vol.70 No.1
Sparganosis, infection by genus Spirometra, commonly invades subcutaneous tissue or intermuscular facia, caused by untreated meat or contaminated food. The worm is 5-20cm in length, typically white wrinkled and ribbon shaped. The clinical features are usually solitary, slow-growing and often slowly migrating subcutaneous mass with or without eosinophilic panniculitis. A 66-year-old woman presented chestnut sized normal skin colored ill-defined deep seated hard palpable mass on Lt. inner thigh. She did not have food history of eating raw meat and fish, but drunk water once in a while from mineral spring. Histologic features revealed well defined worm like lesion with the parenchyma containing basophilic calcareous bodies, muscle fibers and thin-walled ducts. The patient was treated with additional excision and oral albendazole 400mg/day. We report a case of sparganosis unrelated food and suggest careful observation.