Farooq Aimen, Rahman Hamaad, Bani Fawwaz Baha Aldeen, Hurairah Abu
Internal Medicine, AdventHealth Orlando, Orlando, USA.
College of Osteopathic Medicine, Kansas City University of Medicine and Biosciences, Kansas, USA.
Cureus. 2022 Jun 2;14(6):e25614. doi: 10.7759/cureus.25614. eCollection 2022 Jun.
Malignant melanoma is a highly aggressive cancer arising from the skin, retina, and mucosal lining of the respiratory, gastrointestinal (GI), or genitourinary tracts, all of which contain melanocytes. Mucosal or extracutaneous melanomas (ECMs) are rare accounting for 1% of all melanomas. We herein report a case of a metastatic mucosal melanoma presenting as occult blood loss anemia. A 58-year-old male presented with generalized weakness, anorexia, weight loss, and intermittent melena for one year. On exam, he was tachycardic, borderline hypotensive, and pale without epigastric tenderness. Labs showed severe anemia [hemoglobin, Hgb 3.8 mg/dL, mean corpuscular volume (MCV) 72 fl] for which he received two units of red cells. Endoscopy revealed an 8 mm non-bleeding, gastric ulcer with a raised border and a clean base on the wall of the gastric body. Histologic analysis was consistent with malignant melanoma displaying strong positivity for S-100, Melan A, and HMB 45 stains. The CT of the abdomen revealed multifocal metastatic disease with subcutaneous, intramuscular, and perinephric implants with suspicion of small bowel carcinomatosis. The patient underwent an excisional biopsy for the abdominal wall mass and surgical pathology confirmed melanoma. The patient is planned to be started on immunotherapy for advanced disease. Most melanomas found in the GI tract are metastatic. Mucosal melanoma presenting as a gastric ulcer is extremely rare. As a result, metastasis from other sites must be ruled out before making a diagnosis of primary gastric melanoma (PGM). In our case, a widespread disease with unknown primary elucidated the diagnosis but post-operative inspection failed to find any potential lesion on the skin, genitals, or other organs, suggesting the possible diagnosis of metastatic gastric melanoma. However, follow-up is still required to confirm the diagnosis according to the established criteria. Pathologic diagnosis of melanoma requires the identification of melanin in the cytoplasm and immunohistochemistry with specific markers such as S-100, Melan A, and HMB-45. Although the pathologic diagnosis of PGM is similar to cutaneous melanoma, preoperative diagnosis is difficult due to the extremely low incidence, lack of obvious melanin pigmentation, similar microscopic patterns as more common gastric cancers, and lack of awareness among physicians and pathologists. The prognosis of mucosal melanoma is poor, with a five-year survival rate of 25% versus 80% for cutaneous melanoma. Advanced age, surgically unresectable disease, and lymph node involvement are all poor prognostic markers. There is no standard protocol for treatment. Surgery is the only curative treatment for the resectable disease. Adjuvant chemotherapy, radiation, and immunotherapy have an established role in cutaneous melanoma but there is only limited data on adjuvant systemic therapy with mucosal melanoma. Further research is imperative to establish proper management guidelines for this rare disease entity.
恶性黑色素瘤是一种极具侵袭性的癌症,起源于皮肤、视网膜以及呼吸、胃肠道(GI)或泌尿生殖道的黏膜内衬,这些部位均含有黑素细胞。黏膜或皮肤外黑色素瘤(ECM)较为罕见,占所有黑色素瘤的1%。我们在此报告一例以隐匿性失血贫血为表现的转移性黏膜黑色素瘤病例。一名58岁男性,出现全身乏力、厌食、体重减轻及间歇性黑便1年。检查时,他心率过速,血压临界偏低,面色苍白,上腹部无压痛。实验室检查显示严重贫血[血红蛋白,Hgb 3.8mg/dL,平均红细胞体积(MCV)72fl],为此他接受了两单位红细胞输注。内镜检查发现胃体壁有一个8mm无出血的胃溃疡,边界隆起,底部干净。组织学分析与恶性黑色素瘤一致,S-100、Melan A和HMB 45染色呈强阳性。腹部CT显示多灶性转移疾病,有皮下、肌肉内和肾周植入物,怀疑有小肠癌转移。患者接受了腹壁肿块切除活检,手术病理证实为黑色素瘤。该患者计划开始接受针对晚期疾病的免疫治疗。在胃肠道发现的大多数黑色素瘤都是转移性的。以胃溃疡形式出现的黏膜黑色素瘤极为罕见。因此,在诊断原发性胃黑色素瘤(PGM)之前,必须排除其他部位的转移。在我们的病例中,一种原发灶不明的广泛疾病明确了诊断,但术后检查未能在皮肤、生殖器或其他器官发现任何潜在病变,提示可能为转移性胃黑色素瘤。然而,仍需随访以根据既定标准确认诊断。黑色素瘤的病理诊断需要在细胞质中识别黑色素,并使用S-100、Melan A和HMB-45等特定标志物进行免疫组织化学检查。虽然PGM的病理诊断与皮肤黑色素瘤相似,但由于其发病率极低、缺乏明显的黑色素沉着、显微镜下模式与更常见的胃癌相似以及医生和病理学家对此认识不足,术前诊断困难。黏膜黑色素瘤的预后较差,五年生存率为25%,而皮肤黑色素瘤为80%。高龄、手术不可切除疾病和淋巴结受累均为不良预后指标。目前尚无标准的治疗方案。手术是可切除疾病的唯一治愈性治疗方法。辅助化疗、放疗和免疫治疗在皮肤黑色素瘤中已确立作用,但关于黏膜黑色素瘤辅助全身治疗的数据有限。迫切需要进一步研究以建立针对这种罕见疾病实体的适当管理指南。