Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for lynch syndrome

We assessed mismatch repair by immunohistochemistry (IHC) and microsatellite instability (MSI) analysis in an early onset endometrial cancer and a sister’s colon cancer. We demonstrated high-level MSI and normal expression for MLH1, MSH2 and MSH6. PMS2 failed to stain in both tumors, strongly implicating a PMS2 defect. This family did not meet clinical criteria for Lynch syndrome. However, early onset endometrial cancers in the proband and her sister, a metachronous colorectal cancer in the sister as well as MSI in endometrial and colonic tumors suggested a heritable mismatch repair defect. PCR-based direct exonic sequencing and multiplex ligation-dependent probe amplification (MLPA) were undertaken to search for PMS2 mutations in the germline DNA from the proband and her sister. No mutation was identified in the PMS2 gene. However, PMS2 exons 3, 4, 13, 14, 15 were not evaluated by MLPA and as such, rearrangements involving those exons cannot be excluded. Clinical testing for MLH1 and MSH2 mutation revealed a germline deletion of MLH1 exons 14 and 15. This MLH1 germline deletion leads to an immunodetectable stable C-terminal truncated MLH1 protein which based on the IHC staining must abrogate PMS2 stabilization. To the best of our knowledge, loss of PMS2 in MLH1 truncating mutation carriers that express MLH1 in their tumors has not been previously reported. This family points to a potential limitation of IHC-directed gene testing for suspected Lynch syndrome and the need to consider comprehensive MLH1 testing for individuals whose tumors lack PMS2 but for whom PMS2 mutations are not identified

Enfermedad trofoblástica gestacional

El término enfermedad trofoblástica gestacionalagrupa a un conjunto de trastornos caracterizadospor una proliferación anormal de las vellosidadescoriales placentarias. Las variedades más conocidasson la mola hidatiforme (completa y parcial), la molainvasora y el coriocarcinoma.Se presentan datos epidemiológicos, incluidos losfactores de riesgo, una revisión sumaria de los rasgosclínicos y se enfatizan los cambios anatomopatológicos.A continuación se tratan aspectos diversos de entidadesmás raras como el tumor trofoblástico del sitio deimplantación placentaria, y el tumor trofoblásticoepiteliode.Para la estadificación se recurre a los estadiospropuestos por la FIGO, aunque el uso de la tomografíacon emisión de positrones, la biopsia de gangliocentinela y la quimioterapia neoadyuvante no estánprevistas en el esquema de la FIGO.El artículo está ilustrado con figuras a color y labibliografía ha sido seleccionada y actualizada.Palabras clave: Mola; Coriocarcinoma; Tumortrofoblástico; Vellosidades coriales.SUMMARYThe term gestational trophoblastic disease, englobea group of disorders characterized by an abnormalproliferation of placental chorionic villi. The bestknownvarieties are the hydatidiform mole (completeand partial), invasive mole and choriocarcinoma.Epidemiological data are presented, including riskfactors, and a summary review of clinical featuresand anatomopathological changes are emphasized.Different aspects of rarer entities such as thetrophoblastic tumor of the placental implantation siteand the epithelioid trophoblastic tumor are discussed.The stages proposed by FIGO are used for staging,although the use of positron emission tomography,sentinel lymph node biopsy and neoadjuvantchemotherapy are not included in the FIGO scheme.The article is illustrated with color figures and thebibliography has been selected and updated.ey words: Mola. Choriocarcinoma Trophoblastic tumor;Chorionic villi

Manejo en el hogar de cuadros diarreicos agudos del lactante y uso de la terapia de rehidratación oral en la comunidad rural de Cumbo - Estado Miranda

Se realizó un estudio para determinar mediante una encuesta la capacidad de los representantes cuidadores de lactantes de la comunidad rural de Cumbo, estado Miranda, para reconocer la importancia de los signos de deshidratación y las medidas básicas a implementar ante casos de diarreas en los lactantes.In Cumbo, a rural community of Miranda state, a survey was done to determine parent’s and child care-takers’ capacity to recognize dehydration signs and basic measures to implement in unweaned babies with diarrhea. Using simple random sampling 59 child care-takers were selected and interviewed

The role of neoadjuvant chemotherapy in the management of patients with advanced stage ovarian cancer: Survey results from members of the society of gynecologic oncologists, a 5-year follow-up

• NACT use among SGO members for ovarian cancer is explored given recent trials. • Fewer SGO members feel they can't predict optimal cytoreduction pre-operatively. • Laparoscopy use has increased both for diagnosis and treatment of ovarian cancer. • Very high optimal cytoreduction rates are reported from SGO members. • Despite recent studies, SGO members don't regularly treat patients with NACT/ID

Prevalencia de ascariasis en pacientes pediátricos del medio nosocomial público y privado

Se realizó un estudio prospectivo a fin de determinar la prevalencia de ascariasis en niños del medio hospitalario público y privado. Tras un muestreo simple al azar, se tomaron 68 pacientes del medio público y 39 del privado, con edades comprendidas entre 1 mes y 12 años.A prospective study in hospitalized children in private and public hospitals was performed to determine the prevalence of Ascariasis. We did a simple randomized selection of 68 children in public hospitals and 39 in private ones, with an age between 1 month and 12 years

Retroperitoneal lymph node resection in patients with cervical cancer

To determine predictive factors precluding complete resection of metastatic lymph nodes identified by pre-operative imaging in patients with cervical cancer. Retrospective clinical review of patients with cervical cancer with suspected metastases to pelvic and/or periaortic lymph nodes who underwent lymph node dissection by laparotomy at The University of Texas M.D. Anderson Cancer Center from September 1990–December 2004. A total of 104 patients were the subject of this analysis. Post-operatively, 25 patients (24%) had negative lymph nodes, 62 patients (60%) had macroscopically positive lymph nodes, one patient had microscopically positive (1%) and 16 patients (15%) had unresectable lymph nodes. Body mass index did not have any impact on successful resection of lymph nodes. On univariate analysis age ( p = 0.049 ) and size and location of the largest lymph node were associated with resection status ( p = 0.001 and 0.020 ). Logistic regression confirmed that chance of achieving a successful resection decreases with increasing age ( p = 0.046 ) and size of largest lymph node (0.002). The ability to completely resect suspected metastatic lymph nodes at the time of extraperitoneal lymph node dissection in patients with cervical cancer is associated with size and location of largest lymph node