Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025202 (melanoma)
 69,561 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cases of four patients who are carriers of primitive anorectal malignant melanoma are presented, reviewing at the same time the medical literature available. The clinic of all these patients was similar: pain, proctorrhagia, tumors, tenesmus, hemorrhoids and changes in the intestinal rhythm. One of these cases was similar to thrombosed hemorrhoids, and for this reason we believe that all of the parts that are removed should be biopsied. The prognosis of this pathology is in general adverse, notwithstanding the treatment received. There are very few cases on record that have survived more than 5 years, with early diagnosis and treatment with an abdominal-perineal resection. Radiotherapy and chemotherapy can reduce the size of the lesion but it is acknowledged that the prognosis will not change.
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PMID:[Anorectal malignant melanoma]. 856 63

Malignant ano-rectal melanoma is a rare pathology without characteristic symptoms. It is more frequent in females than in males (ratio 2:1) and represents 3-15% of anal canal tumours. A case of a woman who recently came to us complaining of painful defecation, tenesmus and rectal bleeding induced us to reconsider the diagnostic and therapeutic implications in ano-rectal melanoma. The low incidence of cases reported and the negative 5-year prognosis are due to late, often incidental, diagnosis during clinical observation for hemorrhoids, rectal polyps or rhagades, together with the aspecificity of the tumour symptoms. We hope our case report emphasizes the importance of conducting early diagnosis in patients at risk of ano-rectal melanoma.
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PMID:[Malignant anorectal melanoma: description of a clinical case and review of the literature]. 923 68

Primary malignant anorectal melanoma is an uncommon disease that accounts for 1% of anorectal malignancies. Its virulent malignancy is associated with a poor prognosis and with difficult diagnostic and therapeutic problems. The operative management of these patients is controversial. Clinicopathologic features and surgical treatment of 6 patients with primary anorectal melanoma were studied retrospectively. There was a male preponderance (2:1) with a mean age of 62 years (range: 34-74). The site of origin of the melanoma was rectal in one patient and in the anorectal junction in five patients. Atypical intramucosal melanocyte proliferation was associated with rectal melanoma. The maximum tumor size from 2 to 5.5 cm. Common initial symptoms were rectal bleeding and/or tenesmus. CT was useful for tumor staging. Two patients had distant metastases at initial presentation. Four patients underwent "curative" treatments by abdominoperineal resection and 2 by local excision. The survival for the group as a whole was poor (mean: 12.6 months; range: 7-30 months). Surgery is the primary option. The prognosis, however, is poor, since metastatic disease is commonly established at presentation. Atypical intramucosal melanocyte proliferation may be a marker in association with tumor sited in the rectum.
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PMID:[Primary ano-rectal melanoma]. 1119 May 22

Malignant rectal melanoma is a rare tumour. We report a case of a 66-year-old man who presented with a two-month history of rectal bleeding, pain, and tenesmus. A semicircular rectal tumour was seen, just above the dentate line. Biopsies proved it to be an amelanotic malignant melanoma, as protein S100, melanoma antigen HMB45 and Melan-A expression were found. CT scan and rectal ultrasound showed invasion into the internal sphincter and several enlarged perirectal nodes. No distant lesions were detected on CT scan, nor on PET scan. An abdominoperineal resection was performed as a substantial part of the internal anal sphincter was invaded. Histology confirmed an amelanotic malignant melanoma. The patient recovered well from the operation, and received no adjuvant therapy. Four months later, multiple liver metastases were seen on CT scan. With this case we want to illustrate that malignant rectal melanoma can be difficult to diagnose, as patients have non-specific symptoms, and histology may be misleading. One should always check for protein S-100, melanoma antigen HMN-45 and Melan-A expression, as they are strongly suggestive of melanoma. Wide local excision is the preferred procedure when technically feasible, but abdominoperineal resection has to be done if the tumour invades a substantial portion of the anal sphincter or is circumferential. Rectal melanoma has a poor outcome with a 5-year survival rate of between 10-20%. The extent of the disease correlates with the overall survival. The role of radiotherapy, chemotherapy or immunotherapy looks promising, but further investigations are needed.
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PMID:Rectal melanoma--a rare tumour. 1924 34

Primary anorectal melanoma is an extremely rare, aggressive malignancy with a poor prognosis. A 76-year-old man with a 2-month history of rectal bleeding, anal pain, and tenesmus was referred for an F-FDG PET/CT examination, which revealed an abnormal focal FDG uptake on the lower rectum with multiple other intense FDG-avid regions in locoregional pelvic lymph nodes, bones, liver, and lung. It was highly suggestive of malignancy, and a provisional diagnosis of advanced rectal carcinoma was made. However, a following tissue biopsy of the lesion on the lower rectum performed by colonoscopy histopathologically indicated primary anorectal melanoma.
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PMID:Primary anorectal melanoma on FDG PET/CT. 2497 31

Primary mucosal melanoma occurs in under 2% of melanomas. Anorectal melanoma is a rare disorder, approximately accounting for 1% of all anorectal carcinomas. Primary anorectal melanoma presents predominantly in women, in the 4th-6th decade of life. Typical clinical manifestations include rectal bleeding and tenesmus. The prognosis remains poor.
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PMID:Pigmented perianal macules. 2678 46

Anorectal malignant melanoma (AMM) is most common primary melanoma of gastrointestinal tract, accounting for 0.05% and 1% of all colorectal and anal cancers. We reported an 85 year-old woman with no significant past medical history who presented two-month period of rectal bleeding, abdominal pain, tenesmus and 2kg weight-loss. Laboratory markers were unremarkable, although rectal examination revealed two small haemorrhoids and a firm, non-obstructing mass in the lower rectum. Colonoscopy confirmed presence of an ulcerated pigmented neoplasm arising at dental line [A,B]. No distant metastases were found on computed tomography [C] although presented metastatic regional lymph nodes on pelvic MRI [D]. Therefore, abdominoperineal resection was performed, confirming loco-regional disease. Histopathology showed malignant melanoma with positive stains in immunohistochemistry for protein S100, HMB-45 and Melan-A [E,F,G,H] and stained negative for c-Kit.
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PMID:Primary anorectal malignant melanoma: an uncommon anorectal pathology. 2705 38