Ann Ital Chir. 2021 Feb 23;10:S2239253X21035283.
Primary small bowel melanoma is a very rare clinical entity with a paucity of publications in literature. Most cases of gastrointestinal melanomas are metastatic lesions arising generally from primary lesion of the skin, eyes, or anus. We present a case of a small bowel intussusception with primary malignant melanoma as lead point and a gluteal melanoma metastasis after four years free from disease.
A 77-year-old female has come to our attention with signs and symptoms of intestinal occlusion. She was subjected to a computerized tomography (CT) of the abdomen and pelvis that revealed small bowel intussusception caused by intestinal polypoid lesion. She was treated with a bowel resection. The histological exam has shown the presence of an amelanocytic malignant melanoma. The examination of skin, eyes, esophagus, colon and anus, a tot al body contrast- enhanced CT and a bone scintigraphy were negative for primary melanoma. So, the final diagnosis was primary melanoma of the ileum. After four-years disease-free survival, the patient came back to our attention for a gluteal melanoma metastasis, that was surgically removed. Afterwards she started immunotherapy, that is still ongoing.
The diagnosis and the treatment of primary intestinal melanoma is a challenging due to the lack of scientific indications. Our case shows how an early diagnosis, although accidental, can offer a good survival free from disease. Moreover, a careful follow-up of our patients allows us to promptly identify neoplasm recurrence or distant metastasis that can be treated with surgery and systematic therapy.
Intussusception, Primary bowel melanoma.
原发性小肠黑色素瘤是一种非常罕见的临床实体,文献中对此类疾病的报道很少。大多数胃肠道黑色素瘤是由皮肤、眼睛或肛门的原发性病变转移而来的。我们报告了一例小肠套叠,其原发性恶性黑色素瘤为套叠的起点,四年后出现臀部黑色素瘤转移。
一名 77 岁女性因肠梗阻的症状和体征而就诊。她接受了腹部和骨盆的计算机断层扫描(CT),结果显示小肠套叠是由肠息肉样病变引起的。她接受了肠切除术。组织学检查显示存在无黑色素细胞的恶性黑色素瘤。对皮肤、眼睛、食管、结肠和肛门进行了检查,进行了全身增强 CT 和骨闪烁扫描,均未发现原发性黑色素瘤。因此,最终诊断为回肠原发性黑色素瘤。在四年无疾病生存后,该患者因臀部黑色素瘤转移而再次就诊,该转移瘤已被手术切除。随后她开始接受免疫治疗,目前仍在进行中。
由于缺乏科学依据,原发性肠道黑色素瘤的诊断和治疗具有挑战性。我们的病例表明,尽管是偶然发现,但早期诊断可以提供良好的无病生存。此外,对我们的患者进行仔细的随访可以及时发现肿瘤复发或远处转移,从而可以通过手术和系统治疗进行治疗。
肠套叠;原发性肠道黑色素瘤。