Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.4.24.11 (CD10)
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Metastatic tumours involving the parotid gland arising from non-head and neck origin are rare. Immunohistochemistry has improved the differential diagnosis of these lesions. Current immunohistochemical markers allow the distinction between a number of potential primary tumours (e.g., lung, kidney and breast). We present the clinical and histomorphological features of three renal cell carcinoma (RCC) patients presenting with a parotid mass, review the literature of various non-head and neck malignancies metastasizing to the parotid gland, and discuss their differential diagnosis. Two females and one male, aged 58 to 76 years, presented with a parotid tumour of renal cell origin. In one case, the parotid mass was the first clinical manifestation. In the two other cases, a nephrectomy had been performed 5-9 years earlier because of RCC. The cases showed a highly vascular parotid lesion causing difficulty in interpretation of the fine needle aspirate. Two patients underwent a superficial parotidectomy and one patient an open biopsy of the parotid gland tumour. Immunohistochemical stainings for vimentin, CD10 and PNRA were positive suggesting renal cell origin, which was later confirmed. Clinical and radiological evaluations and diagnosis by fine needle aspiration may prove difficult partly due to the vascular nature of parotid metastasis of renal cell carcinoma. Immunohistochemical staining is useful in identifying the primary tumour.
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PMID:Histopathological findings in parotid gland metastases from renal cell carcinoma. 1843 81

We report on a 60-year-old woman with neuroendocrine carcinoma of the left breast metastasizing to renal cell carcinoma (RCC) of the left kidney and to adrenal gland. A yellow, well-circumscribed tumor, 11 cm in largest diameter and limited to the kidney, was found. Histopathology revealed RCC with foci of neuroendocrine differentiation. Solid sheets of hyperchromatic epithelioid cells with high mitotic activity were found between typical clear cells of RCC. These cells were CAM5,2 and E-cadherin focally positive, synaptophysin and NSE weakly positive, CK19 moderately positive, and AE1-AE3 and EMA strongly positive. Chromogranin A, CD10, CK 14, CK 20, HER2 (score 1+), vimentin, and HMB45 were negative. The left adrenal gland contained multiple, separate foci of a tumor composed of neuroendocrine components. Because of the biphasic tumor in the kidney, extensive clinical examination and further analyses were recommended. Tumor in the left breast was revealed. Two months later, the patient underwent mastectomy with axillary lymph node dissection. The tumor was histologically and immunohistochemically similar to the neuroendocrine component within RCC. All axillary nodes were positive. To our knowledge, this is the first case of neuroendocrine breast carcinoma with metastasis to renal cell carcinoma and ipsilateral adrenal gland.
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PMID:Neuroendocrine breast carcinoma metastatic to renal cell carcinoma and ipsilateral adrenal gland. 1853 46

A group of renal tumors composed mainly of cells with clear cytoplasm arranged in papillary patterns and arising in end-stage kidneys has recently been identified. The aim of our study is to investigate the cytogenetic and immunohistochemical phenotypes of these unusual renal tumors, and of morphologically similar tumors arising in kidneys unaffected by end-stage renal disease. Seven tumors from 5 patients (age range: 53 to 64 y, mean: 60 y; 3 men and 2 women) were identified. Sections were obtained from paraffin blocks, including the tumors and adjacent non-neoplastic renal parenchyma. Interphase fluorescence in situ hybridization was performed with centromeric probes for chromosomes 3, 7, 17, Y, and with a subtelomeric probe for 3p25. Immunohistochemistry was performed with antibodies against cytokeratin 7, carbonic anhydrase IX, alpha-methylacyl-CoA racemase, CD10, and transcription factor E3. Four of the tumors were from patients who did not have end-stage renal disease. One patient had end-stage renal disease and presented with 3 morphologically identical tumors, composed of clear cells arranged in a mixture of cystic and papillary structures. Follow-up data were available from all patients and none showed recurrence or metastasis (mean follow-up: 24 mo). All 7 tumors (ranging from 4 to 50 mm in diameter) were stage pT1. All tumors lacked the gains of chromosome 7 and losses of chromosome Y that are typical of papillary renal cell carcinoma. Only 1 tumor showed gain of chromosome 17. Deletion of 3p, usually seen in clear cell renal cell carcinoma, was not detected. All tumors showed strongly positive immunohistochemical staining for cytokeratin 7 and carbonic anhydrase IX and negative immunostaining with antibodies against alpha-methylacyl-CoA racemase, CD10, and transcription factor E3. In conclusion, clear cell papillary renal cell carcinoma can arise in otherwise normal kidneys and in kidneys with end-stage renal disease. This tumor has immunophenotypic and genetic profiles distinct from those of either classic papillary or clear cell renal cell carcinoma, and should be considered a distinct entity in the spectrum of renal cell neoplasia.
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PMID:Clear cell papillary renal cell carcinoma: a distinct histopathologic and molecular genetic entity. 1859 69

Renal oncocytoma, conventional RCC (granular cell type) and chromophobe RCC have different prognosis. Sometimes differentiation between them is difficult in HandE slides. In a 5-year study of 128 renal tumors, we selected 76 cases [30 conventional RCC (CRCC), 16 papillary RCC, 21 chromophobe RCC (ChRCC), 8 oncocytoma, 1 collecting duct carcinoma (cdc)] and staining with Hale's colloidal iron, CK7, CK8, CK18, CK19, CK20, Vimentin, EMA, CD10 and RCC marker were done. No significant difference was seen between renal tumor subtypes with CK8, CK18, CK19, CK20 and EMA. The most useful markers were Vimentin, CK7, CD10, RCC marker and Hale's colloidal iron. Hale's colloidal iron staining with diffuse reticular fine cytoplasmic pattern was present in ChRCCs, but was absent in other subtypes and oncocytomas. Vimentin, CK7, CD10, RCC marker and Hale's colloidal iron can be used for the differential diagnosis of problematic epithelial tumors of kidney (CRCC, ChRCC and oncocytoma) - i.e. ChRCC: Vimentin, CD10 and RCC marker - negative, CK7 - positive and positive diffuse fine reticular cytoplasmic pattern of Hale's colloidal iron; oncocytoma: Vimentin, CK7, RCC marker and CD10 - negative and Hale's colloidal iron - negative; CRCC: CK7 - negative, Vimentin, CD10 and RCC marker - positive and Hale's colloidal iron - negative.
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PMID:Useful markers for differential diagnosis of oncocytoma, chromophobe renal cell carcinoma and conventional renal cell carcinoma. 1860 73

Diagnosing metastatic renal cell carcinoma (RCC) by fine-needle aspiration (FNA) can be challenging. Existing antibodies supporting a diagnosis of RCC, including CD10 and RCC-Ma, have problems with specificity and interpretation. In this report, we evaluate the use of two newer immunostains, PAX-2 and gamma-H2AX, which to our knowledge have not been studied in FNA material, in the diagnosis of metastatic RCC and in comparison with RCC-Ma. 29 cases of metastatic RCC were identified as well as a TMA of an additional 30 RCC cases. In the case cohort, RCC-Ma in a membranous pattern of staining identified 15/27 (56%) metastatic RCC, although interpretation was made difficult in many cases due to focality of staining and non-specific cytoplasmic staining. PAX-2 stained 23/29 (79%) of tumors in a nuclear stain, most strongly. Gamma-H2AX stained 19/26 (73%) of metastatic RCC strongly in a nuclear stain. In the TMA, strong, diffuse nuclear staining with gamma-H2AX was present in 22/30 RCC (73%). If weak staining was also included as positive, 26/30 (87%) were positive. PAX-2 stained RCC TMA with a lower percentage at 56%, including weaker staining intensity. Both PAX-2 and gamma-H2AX demonstrated patchy staining of normal renal tubules, PAX-2 to a greater extent. Both PAX-2 and gamma-H2AX are sensitive markers for the diagnosis of metastatic RCC, with improved ease of interpretation when compared with RCC-Ma. A combination of all 3 markers identified 87% of cases, and failure to stain for both PAX-2 and gamma-H2AX suggests against, but does not disprove, a diagnosis of RCC.
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PMID:Comparison of PAX-2, RCC antigen, and antiphosphorylated H2AX antibody (gamma-H2AX) in diagnosing metastatic renal cell carcinoma by fine-needle aspiration. 1861 17

The opening of Gerota's fascia, soon after harvesting the kidney, is a standard kidney donor procedure in Italy to exclude a renal cell carcinoma (RCC), a frequent finding in older donors. Herein we have reported our experience with the diagnosis and management of subcapsular yellow areas suggestive of RCC on the kidney surface during back-table procedures. From 2001 to 2006, 12/445 grafts showed a single yellowish subcapsular nodule during the back-table procedure which was excised for frozen section (FS) to rule out RCC. The affected donors were 7 males and 5 females of overall mean age of 60 years (range, 25-77 years). The mean nodule diameter was 0.75 cm (range, 0.3-1.2 cm), and all lesions were located in the upper renal pole. In 5 cases, a diagnosis of RCC could not be excluded by FS, and both kidneys were discarded. The final histology confirmed RCC in only 3 cases, and adrenal heterotopia (AH) in the other 2. In the remaining 7 cases, FS showed AH in 4, 1 angiomyolipoma, and 2 areas of infarction confirmed by histology. The adrenal foci consisted of clear cells and scattered cells with eosinophilic, granular cytoplasm and small round nuclei, some with small nucleoli. Immunostains for cytokeratins, CD10, and epithelial membrane antigen were negative, confirming the adrenal origin. AH is the most common pathological yellowish lesion in the upper kidney pole found incidentally during back-table preparation. A histological differential diagnosis with RCC at FS is difficult, relying on the distinction of normal corticoadrenal spongiocytes from Fuhrman grade 1 clear cancer cells. In Italy, for any renal mass suggestive of RCC, a graft discard is mandatory, even if several reports have described cases of renal transplantation performed after back-table excision of small unifocal tumors.
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PMID:Incidentally discovered yellowish lesions in a renal graft from a deceased donor. 1867 30

Renal cell carcinoma (RCC) is characterized by an unpredictable clinical behavior. It has a tendency for early metastasis, which, at times is the initial presentation and therein poses a diagnostic challenge. We present a rare case of a disseminated RCC in a 15-year-old girl, who primarily presented with an occipital soft tissue mass. Computed tomography (CT) of the head revealed a soft tissue mass in the scalp, eroding the occipital bone and extending intracranially. Biopsy examination showed overlapping features of an alveolar soft part sarcoma (ASPS) and a RCC. Immunohistochemistry (IHC) showed diffuse positivity for CD10 and focal positivity for vimentin. Cytokeratin (CK) and epithelial membrane antigen (EMA) were negative. The patient was recommended a clinical 'work-up' to rule out a possible primary in the kidneys. Her CT scan abdomen unraveled a large, lobulated, heterogeneous cystic mass, involving the middle and upper pole of the left kidney. Diagnosis of a metastatic RCC was ascertained. The present case represents a rare manifestation of a RCC metastasizing at an unusual location i.e. calvarium in the youngest patient known, so far and masquerading a primary ASPS. It also highlights the value of clinico-patho-radiological correlation, including CD10 as a useful IHC marker in diagnosing a RCC in young patients, especially when histopathological features overlap with ASPS.
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PMID:Calvarial metastasis of a renal cell carcinoma, mimicking a primary alveolar soft part sarcoma, in a young girl-a rare case report. 1875 96

Mucinous tubular and spindle cell carcinoma (MTSCC) of the kidney generally shows low nuclear grade. MTSCC with high nuclear grade is relatively rare. In this article, we report two cases of MTSCC with Fuhrman grade 3. One case occurred in a 57-year-old Japanese female and the second case in a 49-year-old Caucasian female. Histologically, the tumors were composed of neoplastic cells with cuboidal or columnar and spindle morphology, and Fuhrman nuclear grade 3. The myxoid stroma was also observed. This stroma was positive for Alcian blue stain. Immunohistochemically, neoplastic cells of both cases were positive for AMACR, but negative for CD10 and RCC Ma. Ultrastructurally, tumorous cells of one case contained numerous mitochondria. In FISH analysis, many neoplastic cells of both cases demonstrated monosomy of chromosomes 15 and 22 and disomy of chromosomes 7 and 17. One of the two patients died of respiratory failure due to pleuritis carcinomatosa 48 months postoperatively. Finally, the pathologist should recognize that high grade MTSCC exists despite its rare frequency. FISH analysis may be helpful in establishing the diagnosis of this entity. Furthermore, we present the first report of a patient with MTSCC dying of distant metastasis.
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PMID:Mucinous tubular and spindle cell carcinoma with Fuhrman nuclear grade 3: a histological, immunohistochemical, ultrastructural and FISH study. 1883 Sep 37

Renal oncocytoma (RO) is a characteristic benign renal tumor. The existence of malignant RO is controversial and anecdotal, partly due to a lack of specific markers for RO. With recent advances in immunohistochemistry, RO can be distinguished from other renal neoplasms with routine stains and with the aid of immunostaining. We report two cases of renal neoplasms with similar histopathological appearances. They were characterized by oncocytic cytoplasm, numerous intra-cytoplasmic vacuoles, uniform round to oval hyperchromatic nuclei with remarkably thick nuclear membranes and prominent nucleoli. The tumor cells were closely packed and disposed in an alveolar pattern. The neoplastic cells were diffusely reactive for CD117 and progesterone receptor, and diffusely or focally reactive for cytokeratin AE1/AE3, and focally reactive for cytokeratin 7, CD10, and racemase. The cells were non-reactive for renal cell carcinoma (RCC) antigen, vimentin, S100, and neuroendocrine markers. One tumor showed lymph node metastasis. Due to the remarkable cytological atypia, lymph node metastasis, and similar immunological features of RO, these two tumors likely represent a distinct subtype of RCC related to RO.
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PMID:Oncocytic renal cell carcinoma with immunohistochemical properties of renal oncocytoma. 1894 37

We describe 2 cases of malignant melanotic epithelioid renal neoplasms bearing TFE3 gene fusions. Both neoplasms occurred in children (an 11-y-old boy and a 12-y-old girl), and presented with disseminated metastatic disease including mediastinal and mesenteric adenopathy. Both neoplasms featured sheets of epithelioid cells with clear to finely granular eosinophilic cytoplasm set in a branching capillary vasculature. The neoplastic cells contained variable amounts of finely brown pigment confirmed to be melanin by histochemical stains. By immunohistochemistry, the neoplastic cells labeled for melanocytic markers HMB45 and Melan A, but not for S100 protein, MiTF, or any epithelial marker (cytokeratins, epithelial membrane antigen), renal tubular marker (CD10, PAX8, PAX2, RCC Marker) or muscle marker (actin, desmin). Both neoplasms demonstrated nuclear labeling for TFE3 protein by immunohistochemistry, and the presence of TFE3 gene fusions was confirmed by TFE3 fluorescence in situ hybridization analysis. These distinctive neoplasms combine morphologic features of perivascular epithelioid cell neoplasms (PEComas), Xp11 translocation carcinoma, and melanoma, though the phenotype most closely approaches PEComa. These neoplasms represent the first documented examples in which TFE3 gene fusions coexist with melanin production, and their identification raises the possibility that TFE3 gene fusions may underlie an aggressive subset of lesions currently classified as PEComa in young patients.
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PMID:Melanotic Xp11 translocation renal cancers: a distinctive neoplasm with overlapping features of PEComa, carcinoma, and melanoma. 1906 1


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