Rectal Melanoma: Rare Cancer with Grave Prognosis.

IF 0.5 Q4 GASTROENTEROLOGY & HEPATOLOGY
Khadija Soufi, Ferheen Abbasi, Dongguang Wei, Rashmi Verma
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Abstract

Malignant melanoma of the rectum is an exceedingly rare type of cancer with an aggressive presentation, comprising up to 4% of all anorectal cancers. Presentation of this cancer tends to occur in individuals in their late 80s, with nonspecific symptoms such as anal pain or rectal bleeding. Diagnosing rectal melanoma, especially in early stages, is difficult due to its amelanotic presentation and lack of pigmentation, which results in poor remission rates and prognosis. Furthermore, surgical treatment is difficult as these types of malignant melanomas tend to spread along submucosal planes; thus, complete resections are impractical, especially if caught later. In this case report, we present the radiological and pathological features as seen in a 76-year-old man diagnosed with rectal melanoma. Based on his presentation of a heterogeneous bulky anorectal mass with extensive local invasion, initial impressions were colorectal carcinoma. However, surgical pathology found the mass to be a c-KIT+ melanoma, with positive SOX10, Melan-A, HMB-45, and CD117 biomarkers. While the patient was treated with imatinib, the melanoma was too widespread and aggressive, leading to progression and ultimately death.

Abstract Image

Abstract Image

直肠黑色素瘤:预后严重的罕见癌症。
直肠恶性黑色素瘤是一种非常罕见的具有侵袭性表现的癌症,占所有肛肠癌的4%。这种癌症的表现往往发生在80多岁的人身上,有非特异性症状,如肛门疼痛或直肠出血。诊断直肠黑色素瘤,特别是在早期阶段,是困难的,由于其无色素的表现和缺乏色素沉着,这导致缓解率和预后差。此外,手术治疗是困难的,因为这些类型的恶性黑色素瘤往往沿着粘膜下平面扩散;因此,完全切除是不切实际的,特别是如果发现较晚。在这个病例报告中,我们提出了一个76岁男性诊断为直肠黑色素瘤的放射学和病理特征。根据他的表现,他的肛门直肠有一个不均匀的大肿块,并有广泛的局部侵犯,初步印象是结直肠癌。然而,手术病理发现肿块为c-KIT+黑色素瘤,SOX10、Melan-A、HMB-45和CD117生物标志物阳性。虽然患者接受伊马替尼治疗,但黑色素瘤过于广泛和侵袭性,导致进展并最终死亡。
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来源期刊
Case Reports in Gastroenterology
Case Reports in Gastroenterology Medicine-Gastroenterology
CiteScore
1.10
自引率
0.00%
发文量
99
审稿时长
7 weeks
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