Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The familial atypical multiple mole melanoma (FAMMM) syndrome is caused by a germline mutation of p16. More than 90% of the sporadic pancreatic carcinomas contain genetic alterations that inactivate p16. Patients with the FAMMM syndrome have an increased risk of developing pancreatic cancer. Ductal adenocarcinoma is the most common cancer of the pancreas and the one encountered in patients with FAMMM syndrome. Undifferentiated carcinoma with osteoclastic giant cells, also referred to as UCOCGC of the pancreas, is a rare variant of pancreatic cancer. An UCOCGC of the pancreas associated with FAMMM syndrome is described in this report. Molecular analysis confirmed a germline p16-Leiden deletion in the UCOCGC, accompanied by somatic loss of heterozygosity of the second p16 allele, and absence of p16 protein expression in the neoplastic cells. It is the first case reported and it provides additional evidence that UCOCGC can be considered as a variant of conventional ductal adenocarcinoma of the pancreas.
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PMID:Undifferentiated carcinoma with osteoclastic giant cells (UCOCGC) of the pancreas associated with the familial atypical multiple mole melanoma syndrome (FAMMM). 1881 18

A 36-year-old man developed a papular growth in a portion of a nevus sebaceus on the post-auricular scalp. Excision showed typical histologic changes of nevus sebaceus including epidermal papillomatosis with reduced numbers of hair follicles as well as numerous sebaceous glands high in the dermis that focally emptied directly to the overlying epidermis. Histologic sections of the papular growth at the superior pole of the nevus sebaceus showed a proliferation of cytologically bland basaloid epithelial tumor lobules both in the superficial dermis, with multiple connections to the epidermis, and within the deeper dermis in a nodular growth pattern demonstrating papillary mesenchymal bodies. Ductal structures with apocrine-type decapitation secretion were present. There was prominent palisading of nuclei in rows parallel to one another, alternating with bands of homogenous eosinophilic stromal material forming a ripple pattern resembling the Verocay bodies of schwannoma. The histologic features resembled those of rippled-pattern trichoblastoma with apocrine differentiation arising in a nevus sebaceus, an association not previously described. We discuss this case as well as review the literature on rippled-pattern trichoblastoma.
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PMID:Rippled-pattern trichoblastoma with apocrine differentiation arising in a nevus sebaceus: report of a case and review of the literature. 1946 71