Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal inherited cancer syndrome characterized by germline plus somatic mutations of DNA mismatch repair genes and familial clustering of cancers of colorectum and other visceral organs. So far, to our knowledge, there has been no proof of nonepithelial tumors in association with HNPCC. Here we report on a MSH2 frameshift HNPCC family with a carrier found to have multiple primary tumors, including endometrial hyperplasia, ovarian adenocarcinoma, skin cavernous hemangioma, and skin dermatofibrosarcoma protuberans (DFSP). We studied the replication error (RER) phenotype in noncoding (Bat-26, Bat-25, D2S123, D5S346, and D17S250) and coding (MSH3, MSH6, BAX, and TGFBR2 genes) DNA sequences, and characterized the germline and somatic mutations of the MSH2 gene in the tumors described above and in endometrial carcinomas from two of her affected siblings. RER was observed in an order of hyperplasic endometrium (6/10 markers), ovarian carcinoma (5/10 markers), endometrial carcinomas (4/9 and 3/10), DFSP (2/9 markers), and cavernous hemangioma (2/10 markers). All the tumors showed the same germline mutation of G5-->G6 frameshift at 183-187 and polymorphism of C1168T in a heterozygous pattern. In an endometrial carcinoma, deletion of the second allele of MSH2 was evident. Heterogeneous RER patterns were noted in multiple primary tumors of the same individual and in premalignant and malignant endometrial tumors from different individuals. The study demonstrated the two hits of the hMSH(2) gene as well as intra- and interindividual variations of RER phenotypes in HNPCC. The first characterized nonepithelial tumors in HNPCC seem to carry a limited panel of RER, including a framesift at the (A)(10) tract of TGFBR2.
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PMID:Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes. 1535 Feb 99

This Review documents examination techniques, sonographic features and clinical considerations in ultrasound assessment of gynecological tumors. The methodology of gynecological cancer staging, including assessment of local tumor extent, lymph nodes and distant metastases, is described. With increased technical quality, sonography has become an accurate staging method for early and advanced gynecological tumors. Other complementary imaging techniques, such as computed tomography and magnetic resonance imaging, can be used as an adjunct to ultrasound in specific cases, but are not essential to tumor staging if sonography is performed by a specialist in gynecological oncology. Ultrasound is established as the method of choice for evaluating local extent of endometrial cancer and is the most important imaging method for the differential diagnosis of benign and malignant ovarian tumors. Ultrasound can be used to detect early as well as locally advanced cancers that extend from the vagina, cervix or other locations to the paracolpium, parametria, rectum and sigmoid colon, urinary bladder and other adjacent organs or structures. In cases of ureteric involvement, ultrasound is also helpful in locating the site of obstruction. Furthermore, it is specific for the detection of extrapelvic tumor spread to the abdominal cavity in the form of parietal or visceral carcinomatosis, omental and/or mesenteric infiltration. Ultrasound can be used to assess changes in infiltrated lymph nodes, including demonstration of characteristic sonomorphologic and vascular patterns. Vascular patterns are particularly well visualized in peripheral nodes using high resolution linear array probes or in the pelvis using high-frequency probes. The presence of peripheral or mixed vascularity or displacement of vessels seems to be the sole criterion in the diagnosis of metastatic or lymphomatous nodes. In the investigation of distant metastases, if a normal visceral organ or characteristic diffuse or focal lesions (such as a simple cyst, hepatic hemangioma, renal angiomyolipoma, fatty liver (steatosis)) are identified on ultrasound, additional examinations using complementary imaging methods are not required. If, however, less characteristic findings are encountered, especially when the examination result radically affects subsequent therapeutic management, an additional examination using a complementary imaging method (e.g. contrast-enhanced ultrasound, computed tomography, magnetic resonance imaging, positron emission tomography) is indicated.
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PMID:Ultrasound scanning of the pelvis and abdomen for staging of gynecological tumors: a review. 2189 32

A 27-year-old female patient presented with multiple lipomas and cavernous hemangiomas of the skin, hemangioma of the parotid gland, polyps of the gastrointestinal tract and endometrial carcinoma. After 1 year the patient presented with papillary thyroid carcinoma and a diagnosis of Cowden syndrome (CS) was made. Genetic testing revealed a pathogenic PTEN gene mutation. Hereditary tumor syndromes, such as CS are underdiagnosed. Clinical management can be adjusted to the needs of CS patients only if an early diagnosis is made. In CS the risk for thyroid, breast and endometrial cancer is severely increased.
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PMID:[Multiple hemangiomas, polyposis coli, endometrial and papillary thyroid cancer]. 2238 23

Hemangiomas are the most common benign tumors of the liver, considered giant when they exceed 50-100 mm in diameter. In the present report, we present a case of a 5.2-kg hemangioma of the right hepatic lobe, with hemangiomatous foci in the left lobe, which was incidentally diagnosed in a 53-year-old obese female hospitalized for uterine bleeding. The computed tomographic scan and physical examination revealed a giant abdominal tumor and hepatic hemangioma of the right hepatic lobe was suspected. Right hepatectomy and total hysterectomy with bilateral ovariectomy was performed. The histological examination of the surgical specimens confirmed the extremely giant cavernous hepatic hemangioma, and a synchronous pT1a endometrioid endometrial adenocarcinoma was also diagnosed. The patient remains alive without postoperative disorders, 6 months after surgery. To our knowledge, this is the first reported case of such huge hemangioma incidentally diagnosed in an obese female, with a synchronous endometrial adenocarcinoma of the uterus. Because obesity may cause hyperestrogenism, it might both increase the growth rate of hemangioma and the genesis of endometrial cancer in perimenopausal females.
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PMID:Giant Cavernous Hepatic Hemangioma Diagnosed Incidentally in a Perimenopausal Obese Female with Endometrial Adenocarcinoma: A Case Report. 2685 Oct 37