An effective algorithm to detect the possibility of being MSI phenotype in endometrial cancer given the BMI status and histological subtype: a statistical study.

PURPOSE: In endometrial cancer, the incidence of mutations in mismatch repair genes (MMR) is estimated at 17-30%. Patients with alterations at this level (MSI) are known to have different clinical and anatomopathological characteristics than those without this genetic alteration (MSS). In this study, we aim to identify the MSI phenotype in patients who underwent hysterectomy for endometrial cancer. We assessed the correlation of this phenotype with anatomoclinical parameters such as obesity and histological subtype. METHODS/PATIENTS: Clinical and anatomopathological data were collected from 147 patients diagnosed with endometrial cancer and an immunohistochemical study of MMR system proteins was performed. PMS2 and MSH6 proteins were evaluated as primary screening and subsequent evaluation of MLH1 and MSH6, respectively, if the former were negative. Statistical association between the anatomopathological data and the immunohistochemical result was analyzed. RESULTS AND CONCLUSIONS: 22.4% of our patients were MSI phenotype. We obtained statistically significant differences by multivariate analysis between endometrioid subtype and higher FIGO classification grade with MSI phenotype and obesity with MSS phenotype. Given these statistical results, we propose a function for predicting the probability of being MSI phenotype taking into account the histological subtype (endometrioid/non-endometrioid carcinoma) and FIGO grade as well as obesity. This prediction may be useful prior to hysterectomy, for genetic study of the MLH1 promoter and subsequent genetic counseling.

[Gastric metastases with a choriocarcinoma component from a postpuberal teratoma with mature histology]. / Metástasis gástricas con componente de coriocarcinoma de un teratoma testicular pospuberal con histología madura.

Germ cell tumors are the most frequent neoplasia in young males. The aims of this study is to describe a case in which a postpuberal teratoma suffers a transformation to choriocarcinoma and metastasize to stomach. We have made a systematic review in PubMed and consensus documents to study this mismatch between the tumour, metastasis and the exception of gastric metastatic affectation. We describe three options to explain this discordance: a mixed germ cells tumour, a burned out tumour or a germ cells tumour derived from a malignant germ cell tumour precursor or different clonal strains. After made a thorough investigation we conclude that the most truly option is the last one as we extensive explain below. Once the gastric metastatic lesions are extremely rare and reach to <5%, but there are not conclusive assessments.

[Renal angioleiomyoma with a myogenic and melanocytic immunophenotype, as a variant of angiomyolipoma]. / Angioleiomioma renal con patrón inmunohistoquímico miogénico y melanocítico como variante del angiomiolipoma.

We present a case of a 67 year old male with a cortical nodular tumour of the left kidney. During a year's follow-up with ultrasound and MRI, the tumour was seen to increase in size by 16-20 mm. The nodule was surgically removed. Microscopically it was well defined and unencapsulated, with a proliferation of typical fusiform cells of smooth muscle cell appearance, clumped around well vascularized areas. Immunohistochemically, the neoplasm was positive for muscle markers (smooth muscle actin, desmin and caldesmon) and melanocyte markers (HMB-45 and Melan A). Our case would appear to be a renal neoplasm with an angioleiomyomatous pattern, but with immunohistochemical characteristics of angiomyolipoma (PEComa), however, without either a lipomatous or lipid cell component. We found no previous reports of this type of tumour in the literature.

Angioleiomioma renal con patrón inmunohistoquímico miogénico y melanocítico como variante del angiomiolipoma / Renal angioleiomyoma with a myogenic and melanocytic immunophenotype, as a variant of angiomyolipoma

Se presenta el caso de un varón de 67 años con tumoración cortical nodular renal izquierda. Fue intervenido quirúrgicamente por crecimiento tumoral progresivo de 16-20mm a lo largo de un año y tras seguimiento por estudio ecográfico y de resonancia magnética. Se practicó tumorectomía del nódulo y en el examen microscópico se observó una formación bien delimitada y no encapsulada, resultante de proliferación tumoral de células fusiformes sin atipias y de apariencia muscular lisa, que adoptaban disposición arremolinada junto a zonas ricamente vascularizadas. En el estudio inmunohistoquímico, en la proliferación fusocelular se demostró positividad para marcadores musculares (actina de músculo liso, desmina y caldesmón) y marcadores melanocíticos (HMB-45 y Melan A). Nuestro caso parece tratarse de una neoplasia renal de patrón angioleiomiomatoso, pero con características inmunohistoquímicas de angiomiolipoma (PEComa) sin componente lipomatoso o lipídico, tipo de tumoración sobre la que no poseemos información previa en la literatura revisada

We present a case of a 67 year old male with a cortical nodular tumour of the left kidney. During a year's follow-up with ultrasound and MRI, the tumour was seen to increase in size by 16-20 mm. The nodule was surgically removed. Microscopically it was well defined and unencapsulated, with a proliferation of typical fusiform cells of smooth muscle cell appearance, clumped around well vascularized areas. Immunohistochemically, the neoplasm was positive for muscle markers (smooth muscle actin, desmin and caldesmon) and melanocyte markers (HMB-45 and Melan A). Our case would appear to be a renal neoplasm with an angioleiomyomatous pattern, but with immunohistochemical characteristics of angiomyolipoma (PEComa), however, without either a lipomatous or lipid cell component. We found no previous reports of this type of tumour in the literature