Preventing Ovarian Cancer in High-risk Women: One Surgery at a Time.

Eleven genes have been identified that increase the lifetime risk of developing ovarian cancer. The cumulative cancer risk of ovarian cancer varies with the mutation type and age. Ovarian cancer risk management options include surgical risk reduction with salpingo-oophorectomy and a newer step-wise approach with interval salpingectomy and delayed oophorectomy. Women should be counseled on the pros and cons of hysterectomy in the setting of reducing the risk of other cancers; eliminating the risk of endometrial cancer in Lynch Syndrome, potential risk of serous/serous-like endometrial cancer in BRCA1 carriers, and elimination of progestogen therapy that may increase breast cancer risk.

Síndrome de Lynch tipo II: Presentación de caso / Syndrome of Lynch type II: Case presentation

El cáncer colorrectal hereditario no ligado a la poliposis asociado a neoplasias extra intestinales se denomina Síndrome de Lynch tipo 2 y su diagnóstico constituye un reto para el personal médico. Objetivo: propiciar mediante la presentación de un caso el pensamiento clínico y la actualización científica en esta entidad para efectuar un diagnóstico más oportuno. Presentación de caso: paciente de 49 años, ingresó por una masa palpable en fosa ilíaca izquierda e hipogastrio. Se realizó resección quirúrgica y se diagnosticó un cistadenocarcinoma mucinoso papilar de ovario para lo cual se le prescribió quimioterapia. Dos años más tarde se ingresó por dolor en hemiabdomen inferior, astenia, mareos y palidez cutáneo mucosa. Tras otra intervención quirúrgica se diagnosticó un adenocarcinoma de colon sigmoides. La paciente falleció posteriormente por un cuadro de sangramiento en sábana y fallo multiórganos. Conclusiones: basado en los criterios de Ámsterdam y Bethesda se realizó el diagnóstico de un Síndrome de Lynch tipo 2. Por la frecuencia de la variante hereditaria no polipósica dentro de los cánceres colorrectales se impone una valoración integral del paciente y un juicio clínico coherente para mejorar la certeza diagnóstica en un síndrome que no es infrecuente sino poco diagnosticado(AU)

Hereditary colorectal cancer non-related to polyposis associated to extraintestinal neoplasias is called syndrome of Lynch type II and its diagnosis constitutes a challenge for medical staff. Objective: to make possible through a case presentation the clinical thought and the scientific up-dating in this entity to make a more accurate diagnosis. Case presentation: a forty –nine years old patient was admitted for a palpable mass on the left iliac fossa and hypogastrium. A surgical reception was carried out and a papillary mucinous cystadenocarcinoma of ovary was diagnosed for which chemotherapy was prescribed. Two years she was admitted for lower hemoabdomen pain, asthenia, dizziness and cutaneous mucosa paleness. After another surgery a sigmoid colon adenocarcinoma was diagnosed. Later the patient died due to a bleeding and multiorgan failure. Conclusions: based on the criteria of Amsterdam and Bethesda a diagnosis was made of a syndrome of Lynch type II. Due to the frequency of the non-polyposic hereditary variant of the colorectal cancers it is mandatory an integral evaluation of the patient and a coherent clinical judgment in order to improve the diagnostic certainty in a syndrome which is not infrequent but poorly diagnosed

Síndrome de Lynch tipo II. Presentación de caso / Syndrome of Lynch type II. Case presentation

Fundamento: el cáncer colorrectal hereditario no ligado a la poliposis asociado a neoplasias extra intestinales se denomina S índrome de Lynch tipo 2 y su diagnóstico constituye un reto para el personal médico. Objetivo: propiciar mediante la presentación de un caso el pensamiento clínico y la actualización científica en esta entidad para efectuar un diagnóstico más oportuno. Presentación de caso: paciente de 49 años, ingresó por una masa palpable en fosa ilíaca izquierda e hipogastrio. Se realizó resección quirúrgica y se diagnosticó un cistadenocarcinoma mucinoso papilar de ovario para lo cual se le prescribió quimioterapia. Dos años más tarde se ingresó por dolor en hemiabdomen inferior, astenia, mareos y palidez cutáneo mucosa. Tras otra intervención quirúrgica se diagnosticó un adenocarcinoma de colon sigmoides. La paciente falleció posteriormente por un cuadro de sangramiento en sábana y fallo multiórganos. Conclusiones: b asado en los criterios de Ámsterdam y Bethesda se realizó el diagnóstico de un S índrome de Lynch tipo 2. P or la frecuencia de la variante hereditaria no polipósica dentro de los cánceres colorrectales se impone una valoración integral del paciente y un juicio clínico coherente para mejorar la certeza diagnóstica en un síndrome que no es infrecuente sino poco diagnosticado.

Background: hereditary colorectal cancer non-related to polyposis associated to extraintestinal neoplasias is called syndrome of Lynch type II and its diagnosis constitutes a challenge for medical staff. Objective: to make possible through a case presentation the clinical thought and the scientific up-dating in this entity to make a more accurate diagnosis. Case presentation: a forty -nine years old patient was admitted for a palpable mass on the left iliac fossa and hypogastrium. A surgical reception was carried out and a papillary mucinous cystadenocarcinoma of ovary was diagnosed for which chemotherapy was prescribed. Two years she was admitted for lower hemoabdomen pain, asthenia, dizziness and cutaneous mucosa paleness. After another surgery a sigmoid colon adenocarcinoma was diagnosed. Later the patient died due to a bleeding and multiorgan failure. Conclusions: based on the criteria of Amsterdam and Bethesda a diagnosis was made of a syndrome of Lynch type II. Due to the frequency of the non-polyposic hereditary variant of the colorectal cancers it is mandatory an integral evaluation of the patient and a coherent clinical judgment in order to improve the diagnostic certainty in a syndrome which is not infrequent but poorly diagnosed.

Histologic evaluation of prophylactic hysterectomy and oophorectomy in Lynch syndrome.

Women with Lynch syndrome (LS) are at increased risk for endometrial (EC) and ovarian carcinoma (OC). Current surveillance recommendations for detection of EC and OC in LS patients are not effective. Small studies have shown that prophylactic hysterectomy and bilateral salpingo-oophorectomy (P-TH-BSO) are the most effective and least expensive preventive measures in these patients. Data regarding histologic findings in prophylactic specimens in these patients are lacking. All LS patients who underwent P-TH-BSO at the Memorial Sloan-Kettering Cancer Center from 2000 to 2011 were identified. Slides were evaluated for the presence of endometrial hyperplasia (EH), EC, OC, or any other recurrent histologic findings. Twenty-five patients were identified, with an age range of 36 to 61 years. Fifteen patients had a synchronous or prior colorectal carcinoma, and 2 patients had a history of sebaceous carcinoma. Focal FIGO grade 1 endometrioid ECs were detected in 2 patients; 1 was 54 years of age (MSH2 mutation; superficially invasive), and the other was 56 years of age (MLH1 mutation; noninvasive). Focal complex atypical hyperplasia, unassociated with carcinoma, was seen in 3 patients, ages 35 and 45 (MLH1 mutations) and 53 years (MSH2 mutation). One patient (44 y, with MSH2 mutation) was found to have a mixed endometrioid/clear cell OC and simple EH without atypia. The OC was adherent to the colon but did not show distant metastasis. In our study, P-TH-BSOs performed because of the presence of LS revealed incidental EC and/or EH in 24% of cases and OC in 4%. The ECs were low grade, confined to the endometrium, and seen in patients older than 50 years. Prophylactic hysterectomy allows detection of early lesions in LS; these lesions appear to be small and focal. This small series of prophylactic hysterectomies may provide some clues about LS-associated endometrial carcinogenesis.