一名非裔美国人肛管恶性黑色素瘤的异常表现和病程

Mediha Siddiqui , Joe Saad , Darshan Gandhi
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摘要

背景皮肤黑色素瘤在白种人中的发病率高达 2.6%,但在非裔美国人中的发病率却低得多,仅为 0.1%。此外,肛门黑色素瘤在所有黑色素瘤中的发病率不到 1%,在肛门癌中约占 4%,而纺锤形细胞变异型黑色素瘤的发病率则更低,这表明黑色素瘤在非裔美国人中的发病率极低。由于发病时没有明确的肿块或色素沉着,明确诊断可能具有挑战性。我们在此介绍一例 63 岁的非裔美国人病例,该患者既往无重大病史,3 年前结肠镜检查无异常,在一次预定的结肠镜筛查中发现肛管内有肿块。患者就诊时完全没有症状。PET/CT 扫描显示肛管区域存在高代谢活动。患者接受了手术切除,病理显示为 2.7 厘米的纺锤形细胞型恶性黑色素瘤,并及时接受了辅助免疫治疗,结果在肝脏复发前延长了无进展生存期。
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Unusual presentation and course of malignant melanoma of anal canal in an African-American patient

Background

While cutaneous melanoma is common in up to 2.6% of Caucasian population, it is far less common in the African American population, up to 0.1%. Additionally, anal melanoma in particular comprises less than 1% of all melanomas and roughly 4% of anal cancers, while Spindle-cell variants are even less common, suggesting an extremely low incidence in the African American population. Definitive diagnosis can be challenging due to lack of definitive mass or pigmentation at presentation. There is a lack of good long-term studies and treatment guidelines for this malignancy with significant variation in treatment approaches and patient outcomes.

Case description

Here we present a case of an 63-year old African American gentleman with no significant past medical history and unremarkable colonoscopy 3 years prior, who presented with a mass in the anal canal that was found during a scheduled screening colonoscopy. The patient was completely asymptomatic at presentation. PET/CT scan showed hypermetabolic activity in the anal canal region. Patient underwent surgical excision with pathology revealing a 2.7 cm spindle cell type of malignant melanoma and promptly treated with adjuvant immunotherapy, resulting in extended progression-free survival before recurrence in the liver.

Conclusion

The early diagnosis of spindle cell melanoma can prompt more aggressive surgical and systemic management options resulting in extended survival, however, late recurrences are common and often refractory to standard therapeutic options.

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审稿时长
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