Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P04637 (p53)
 77,613 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The rare case of a stromal Leydig cell tumor of the ovary occurring in a 21-year-old woman who developed signs of virilization during pregnancy is reported. Serum androgen levels were markedly elevated. At cesarean section, a slightly hypotrophic, but otherwise normal, female infant was delivered and a tumor of the right ovary measuring 12 cm in maximum diameter was resected. Histologic examination revealed a sex cord-stromal tumor consisting of spindle-shaped, thecomatous cells and a large number of loosely scattered clusters of large polygonal cells with abundant eosinophilic cytoplasm. Both types of tumor cells were strongly immunoreactive for vimentin, but exhibited no proliferative activity and no overexpression of p53 protein. A few of the polygonal cells contained typical crystalloids of Reinke. Cellular atypia was not a prominent feature, and a diagnosis of benign stromal Leydig cell tumor was established. As expected, 20 months after diagnosis the patient exhibits no signs of recurrence or dissemination. To the best of our knowledge this is only the second case of a stromal Leydig cell tumor occurring in pregnancy to be described.
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PMID:Virilizing stromal Leydig cell tumor (Leydig cell-containing thecoma) of the ovary in pregnancy. A case report with extensive immunohistochemical investigation of the tumor cells. 854 8

Leydig cell tumors of the testis are rare, mostly presenting as a testicular mass or as endocrinological symptoms. Here, three patients who were admitted for investigation of primary infertility and one patient presenting with a testicular mass are reported. The histological features were reviewed and an immunohistochemical study was done using a panel of antibodies against cytokeratin, vimentin, inhibin A, S-100, Ki-67, follicle-stimulating hormone, luteinizing hormone, prolactin, p53, bcl-2, and c-erbB2. The latter case (lost during follow up of metastatic disease) demonstrated massive tumor necrosis, extension through the tunica albuginea, and a high mitotic activity and MIB-1 score. Only this malignant case was bcl-2 positive. Of the two oncogenic markers studied, none of the cases were positive for c-erb2, while p53 was positive in more than 50% of cells in the malignant case and in one case of infertility with a large tumor, hemorrhage, focal necrosis and atypical cytological features. We recommend the evaluation of infertile men for Leydig cell tumors, and we believe that a panel of antibodies, including Ki-67, p53 and bcl-2, used for immunohistochemical analysis could be of diagnostic value in the identification of malignant and borderline cases of Leydig cell tumor.
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PMID:Leydig cell tumor of the testis: comparison of histopathological and immunohistochemical features of three azoospermic cases and one malignant case. 1188 32

The article reports the clinical, histopathological, and immunohistochemical findings of a 1-year-old boy presenting with isosexual pseudoprecocity attributable to a functioning Leydig cell tumor of the testis. The case appears to represent the youngest patient ever recognized with this well-known syndrome. Malignancy features were also for the first time initially assessed using criteria, retrospectively developed from the literature, for metastasizing Leydig cell tumor. All the following were found: infiltrative borders, cellular pleomorphism, high mitotic index (12-14/high-power field), high MIB-1 index (40%), P53 positivity in 50% of the cells, and bcl-2 positivity in 15% of the cells. Immunohistochemistry proved the cells of the tumor to be positive for inhibin, Melan-A, synaptophysin, cytokeratin, and calretinin and negative for S-100 and chromogranin A. Notably, lipochrome and crystals of Reinke were not found in the tumor cells. Although the neoplasm fulfilled the criteria for a potentially metastasizing Leydig cell tumor, there was no evidence of that event having occurred, perhaps as a result of early treatment or as indication that criteria developed for Leydig cell tumor of adults may not apply to children.
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PMID:Leydig cell tumor of the testis with histological and immunohistochemical features of malignancy in a 1-year-old boy with isosexual pseudoprecocity. 1704 Dec 5

A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition.
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PMID:A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor. 1706 64

Sertoli-Leydig cell tumors (SLCT) comprise less than 1% of ovarian tumors. The nature of the Leydig cells has been a subject of controversy and it is unclear whether they are clonally related to the neoplasm or instead proliferate as a non-neoplastic response to the Sertoli-cell component. Twelve ovarian SLCT were identified and hematoxylin and eosin and unstained sections were prepared from formalin-fixed, paraffin-embedded tissue blocks. Tissue samples were microdissected from normal tissue, the Sertoli cell component, and the Leydig cell tumor component using the laser capture microdissection method. If present, tissue was also obtained from any heterologous component. Genomic DNA was extracted from the samples and polymerase chain reaction was used to amplify polymorphic sites at 5 loci: D16S402, TP53, IFNA, D17S855, and D11S1318. X-chromosome inactivation (HUMARA) analysis was also performed. LOH and/or nonrandom X-chromosome inactivation was observed in at least 1 of the 6 amplified loci in the Leydig cell component of 10 of the 12 tumors. LOH and nonrandom X-chromosome inactivation patterns of the Sertoli cell component and Leydig cell component were compared. Concordant allelic loss and/or matching X-chromosome inactivation patterns were observed in 8 (67%) of the 12 tumors. In 7 of these tumors similar LOH or X-chromosome inactivation was observed at 1 site. In 1 tumor similar LOH and/or X-chromosome inactivation was observed at 2 sites. Three tumors had heterologous components. The heterologous components similarly shared LOH/X-chromosome inactivation with the Sertoli cell components at 1 site in 1 case and 2 sites in 2 cases. These data suggest that, at least in some cases, the Leydig cell component of SLCT is neoplastic rather than reactive in nature, and shares a common clonal origin with the coexisting Sertoli cell component. Similarly, the heterologous components, when present, appear to share clonal origin with the Sertoli cell components.
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PMID:Molecular genetic evidence supporting the neoplastic nature of the Leydig cell component of ovarian Sertoli-Leydig cell tumors. 1788 85

Testicular hemangioma is a very rare neoplasm with only 25 cases reported in the English literature. We describe 8 cases of testicular hemangioma encountered at our institution between 1992 and 2012. Of the 7 consult cases, 4 were malignant, 1 a Leydig cell tumor, and 2 were recognized as hemangiomas. The patients' ages ranged from 9 to 54 years (mean 32; median 30). Seven patients presented with self-detected palpable masses, and 2 patients reported pain. Six hemangiomas involved the right testis, and 2 were left sided. Ultrasonography recognized hypervascularity in 3 cases. History of pelvic irradiation, chemotherapy, and remote scrotal trauma was present in 3 patients. Preoperative serum tumor markers were negative (2/2 cases). The average size was 1.7 cm (median 1.8; range, 0.5 to 3.0). Six cases were infiltrative within the testis and entrapped benign seminiferous tubules, and 3 tumors invaded the tunica albuginea. Three hemangiomas were epithelioid, 2 anastomosing, 1 cellular capillary, 1 capillary, and 1 cavernous. Mitoses were sparse in all but 1 case, which reached up to 5 per 10 HPF. In 6 cases, seminiferous tubules adjacent to the hemangioma were atrophic without spermatogenesis. Immunohistochemical analysis was performed in 6 cases, and tumors stained with CD31, CD34, FVIII-related protein, and FLI-1 but not with pancytokeratin AE1/3, epithelial membrane antigen, keratin 8/18, placental alkaline phosphatase, human herpes virus 8, human chorionic gonadotropin, c-kit, melan-A, or p53. In cases with follow-up, there were no recurrences in 7 patients (mean 21 mo; median 12 mo; range, 1 to 72 mo). In summary, testicular hemangioma is a rare neoplasm with different morphologies having in common an infiltrative growth pattern with entrapment of seminiferous tubules, which should not be considered a feature of malignancy. Clinical and radiologic findings may preoperatively suggest a vascular tumor.
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PMID:Testicular hemangioma: a series of 8 cases. 2366 24