Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P10721 (c-kit)
 6,575 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Germline mutations in one of two alleles of c-ret, c-met and c-kit protooncogenes have been revealed to be the causes of three autosomal dominant hereditary tumors; multiple endocrine neoplasia type 2(MEN2), hereditary papillary renal cell carcinoma (HPRCC), and familial gastrointestinal stromal tumor(FGIST), respectively. Patients with MEN2A have missense mutations at extracellular cysteine rich domain of c-ret, those with MEN2B have missense mutations at tyrosine kinase domain of c-ret, those with HPRCC have missense mutations at tyrosine kinase domain of c-met, and those with FGIST have in-frame deletion mutations at juxtamembrane domain of c-kit. All of these mutations are assumed to cause constitutive activation of protooncogenes without binding to ligands, resulting in tumor formation.
 ...
PMID:[Mechanism of carcinogenesis by germline mutation of protooncogene in hereditary tumors]. 1087 45

Mucinous tubular and spindle cell carcinoma, a rare, recently described distinctive subtype of renal cell carcinoma, may have some morphologic similarities to the more common papillary renal cell carcinoma, particularly the basophilic (type 1) tumors with prominent solid growth pattern. Tumor circumscription, compact tubular architecture, focal papillations, mucin production and foam cells (features seen in both papillary renal cell carcinoma and mucinous tubular and spindle cell carcinoma), as well as spindle cell morphology, have resulted in some cases sent to us in consultation with a question of possible sarcomatoid papillary renal cell carcinoma. In this study, tissue microarrays with triplicate samples each from 27 mucinous tubular and spindle cell carcinomas and 20 papillary renal cell carcinomas were created to simulate experience in renal biopsy specimens. From immunohistochemistry (IHC) data, published in the contemporary literature, a panel consisting of alpha-methylacyl-CoA racemase (AMACR), cytokeratin 7 (CK7), epithelial membrane antigen (EMA), renal cell carcinoma marker (RCC Ma), CD10, high molecular weight cytokeratin (HMWK), and c-kit was designed to test its utility in differential diagnosis. The immunoreactivity in mucinous tubular and spindle cell carcinoma was AMACR 93%, CK7 81%, EMA 95%, RCC Ma 7%, CD10 15%, HMWK 15%, and c-kit 5% and in papillary renal cell carcinoma was AMACR 95%, CK7 65%, EMA 88%, RCC Ma 25%, CD10 80%, HWMK 15%, and c-kit 18%. This largest study to date on IHC of mucinous tubular and spindle cell carcinoma dispels the specificity of AMACR for papillary renal cell carcinoma among the RCC subtypes. The histogenesis of mucinous tubular and spindle cell carcinoma from the distal nephron continues to be debatable, as our study showed the expression of the proximal convoluted tubule-related marker AMACR among these tumors. Thus, in tumors with predominant compact tubular growth and focal papillary architectures, careful attention to the presence of a low-grade spindle cell population may be helpful in the distinction of mucinous tubular and spindle cell carcinoma, as the key immunohistochemical stains for papillary renal cell carcinoma are also expressed in this subtype of renal cell carcinoma.
 ...
PMID:Immunohistochemical analysis of mucinous tubular and spindle cell carcinoma and papillary renal cell carcinoma of the kidney: significant immunophenotypic overlap warrants diagnostic caution. 1633 Sep 37

We report a case of an oncocytic papillary adenocarcinoma of the endometrium in an 89-year-old female with vaginal bleeding. Imaging studies revealed lesions in the uterus, kidneys, pancreas, gluteus, and an enlarged portacaval lymph node. Diagnostic workup included an endometrial biopsy which showed malignant, oncocytic cells in a predominantly papillary pattern. These cells stained positive for epithelial markers (pan-cytokeratin, CK7, epithelial membrane antigen) and weakly for estrogen receptor. The cells were negative for cytokeratin 903, CAM 5.2, progesterone receptor, CD10, RCC Marker, CA-125, c-kit, and vimentin. Consultation with experts in Gynecologic and Genitourinary pathology returned a diagnosis of "adenocarcinoma compatible with metastatic renal cell carcinoma"--an intriguing possibility worthy of further exploration. To our knowledge, there are no reports in the literature of metastatic oncocytic papillary renal cell carcinoma to the endometrium. The clinical and pathologic features of oncocytic papillary endometrial lesions, including primary and metastatic processes, are reviewed.
 ...
PMID:Metastatic versus primary oncocytic papillary adenocarcinoma of the endometrium: a report of a case and review of the literature. 1962 Sep 43