A Rare Case of Primary Anorectal Melanoma and a Review of the Current Landscape of Therapy

被引:9
作者
Yeung, Ho-Man [1 ]
Gupta, Brinda [1 ]
Kamat, Bhishak [2 ]
机构
[1] Temple Univ Hosp & Med Sch, Dept Med, Philadelphia, PA 19140 USA
[2] Temple Univ Hosp & Med Sch, Dept Radiol, Philadelphia, PA 19140 USA
来源
JOURNAL OF COMMUNITY HOSPITAL INTERNAL MEDICINE PERSPECTIVES | 2020年 / 10卷 / 04期
关键词
Anorectal melanoma; muscosal melanoma; immunotherapy; gastrointestinal cancer; ABDOMINOPERINEAL RESECTION; MUCOSAL MELANOMA; LOCAL EXCISION; IPILIMUMAB; EFFICACY; KIT; FEATURES; SAFETY; TRIAL;
D O I
10.1080/20009666.2020.1787809
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Introduction: Anorectal mucosal melanoma (ARMM) is an uncommon and highly aggressive malignancy. Given its rarity, there is insufficient evidence on the optimal medical management which presents as a clinical challenge to its diagnosis and treatment. Treatment of ARMM typically involves a multimodal approach including surgical resection, chemotherapy, targeted therapy and/or immunotherapy. Case Presentation: Here, we present a case of a 78-year-old female who presented with a four-month history of rectal bleeding and bowel incontinence. Ultimately, colonoscopy revealed a mass at the anal verge, and biopsy of the mass showed malignant cells that stained positive for S100, Melan-A and HMB-45, consistent with the diagnosis of malignant melanoma. Molecular testing revealed noBRAF, KITorNRASgene mutations. PD-L1 immunohistochemistry showed tumor proportion score of 1%. She underwent abdominoperineal resection with a plan to initiate immunotherapy with an anti-PD-1 checkpoint inhibitor. This case highlights a rare aggressive malignancy and reviews its treatment option, which are mostly extrapolated from its cutaneous counterpart and some derived from a few case reports. Due to its rarity, there is no consensus guideline for the treatment of ARMM.
引用
收藏
页码:371 / 376
页数:6
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