A case of Constitutional Mismatch Repair Deficiency (CMMRD)

@#Constitutionalmismatch repair deficiency(CMMRD) is a hereditary predisposition of malignancy evident in childhood leukemias, lymphomas, and malignant tumors of the brain, GI tract. It is a very rare condition that affects 1 per 1 million patients. Patients with CMMRD syndrome may also manifest with Neurofibromatosis Type 1 (NF1) phenotypic features, and benign masses, particularly in the gastrointestinal tract. This is a case of a 12-year old male who presented with phenotypic features of NF1, developed Acute Lymphoblastic Leukemia at 7 years old and went into remission. He subsequently developed synchronous Glioblastoma and Poorly differentiated Adenocarcinoma of the rectum.This report aims to raise awareness regarding the possibility of a CMMRD syndrome in pediatric patients who present with phenotypic features of NF1, and in those patients who present with two or more malignancies in their lifetime.

Adenocarcinoma sincrónico de alto grado de endometrio y ovario; a propósito de un caso clínico / Synchronous high-grade adenocarcinoma of the endometrium and ovary; about a clinical case

RESUMEN El cáncer sincrónico endometrial y ovárico (SEOC) representa alrededor de un 5-10% de las neoplasias de endometrio y ovario. Cuando no existe extensión locorregional y presentan un patrón histológico de bajo grado, actúan como si fueran dos tumores primarios independientes, en lugar de comportarse como un cáncer en estadio avanzado. Los mecanismos para diferenciar si su origen es metastásico o por el contrario, son tumores primarios independientes conlleva una gran dificultad y ha generado una importante controversia dentro del estudio de este tipo de neoplasias. En este artículo, exponemos el caso clínico de una paciente de 46 años que presenta un tumor sincrónico de endometrio y ovario en estadio IA, desconocido hasta el estudio histológico de la pieza quirúrgica.

ABSTRACT Endometrial and ovarian synchronous cancer (SEOC) accounts for about 5-10% of endometrial and ovarian neoplasms. When there is no local extension and they present a low-grade histological pattern, they act as if they were two independent primary tumours, instead of behaving as an advanced stage cancer. Therefore, the differentiation of its origin (metastatic or independent primary tumours) is fraught with difficulty and has generated a significant controversy in the study of this type of neoplasms. In this article, we present the clinical case of a 46-year-old patient presenting a synchronous tumor of the endometrium and ovary in IA stage, unknown until the histological study of the surgical sample.