Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cowden's disease (CD) is an autosomal dominant disorder which confers a high susceptibility to diverse benign and malignant tumors. The PTEN (phosphatase and tensin homologue deleted in chromosome ten) gene has been identified as a tumor suppressor gene responsible for cancers of the endometrium, ovary, prostate, and glioblastomas. Recently, germline mutations of this gene were also found in patients with CD, and it is now recognized as a gene responsible for this disease. We identified a germline nonsense mutation at codon 130 in exon 5 of PTEN in a 56-year-old Japanese woman with CD. The patient had adenoid facies and mucocutaneous lesions including multiple facial papules, acral keratoses on neck and shoulders, palmoplantar keratoses, multiple oral papillomas, scrotal tongue, mucosal and cutaneous hemangiomas, and a sclerotic fibroma on the arm. She also had benign and malignant polypoid neoplasms throughout the entire digestive tract, including adenocarcinoma of the colon and submucosal lipomas of the rectum, as well as bilateral breast carcinomas, multinodular goiters, an ovarian cyst with a fibroma-like nodule, hepatic hemangiomas, and abdominal hernia. We searched CD cases with the same genotypic PTEN mutation as the present case and compared their phenotypes. Further studies will disclose a better understanding of the role of mutation in the PTEN gene in the course of tumorigenesis of both benign and malignant tumors developed in patients with CD.
 ...
PMID:Germline mutation of the PTEN gene in a Japanese patient with Cowden's disease. 1129 50

Solitary fibrous tumor (SFT) of the peritoneum is an unusual spindle-cell neoplasm. SFT was originally described in the pleura; however it is now diagnosed in multiple extrathoracic sites. Most believe that the tumor is of mesenchymal origin and should be classified as a variant of fibroma. SFT of the pleura and peritoneum have also been called fibrous mesothelioma, and the cell of origin is felt to be a pluripotential submesothelial mesenchymal cell. Primary tumors arising in hernia sacs are rare, and we report on two patients with hernia SFT. The first is a 67-year-old man who had a diffusely thickened distal left inguinal hernia sac. Within the sac was copious myxoid material mimicking pseudomyxoma peritonei. Herniorrhaphy and orchiectomy were performed. The second is a 44-year-old woman with a midepigastric mass attached to a ventral hernia. Wide local excision was performed. Both tumors demonstrated plump spindle cells, one with myxoid background and the other with keloidal collagen. Calretinin immunostaining was positive in both tumors, whereas CD34 was negative. This suggests tumor origin from a submesothial pluripotential cell that maintains potential for mesothelial differentiation. Surgical excision is the treatment of choice with the degree of resectability being a powerful predictor of outcome.
 ...
PMID:Solitary fibrous tumors arising in abdominal wall hernia sacs. 1140 7

Amyand's hernia describes the presence of an appendix within the sac of an inguinal hernia. Both an inflamed and non-inflamed appendix within the hernia sac have been reported in the literature with various recommendations on approach to management. However, a tumour of the appendix is a rare finding in an Amyand's hernia. We hereby report the unusual presentation of a fibroma of the appendix complicating the rare Amyand's hernia in a young man with a scrotal mass.
 ...
PMID:Appendiceal fibroma in an Amyand's hernia mimicking a supernumerary testis: a case report. 3264 92