Prepectoral and Retropectoral Breast-implant-Associated Anaplastic Large-cell Lymphoma.

Breast-implant-associated anaplastic large cell lymphoma (BIA-ALCL) is a non-Hodgkin lymphoma that arises in the space between the surface of a breast implant and the fibrous capsule that grows around the implant. Since its first description 20 years ago, almost 1000 cases of BIA-ALCL have been diagnosed worldwide. Nowadays, guidelines describe the diagnosis, staging, and treatment of this disease. We present the first two cases diagnosed and treated in Peru, demonstrating a wide range of aggressiveness of BIA-ALCL.

[Pancreatic lipomatous hamartoma: A case report and literature review]. / Hamartoma lipomatoso pancreático: Reporte de caso y revisión de la literatura.

Pancreatic hamartomas (PH) are extremely unusual non-neoplastic tumor-like lesions and accounts for <1% of all hamartomas. Moreover, there is a distinct variant of PH denominated Pancreatic lipomatous hamartoma (PLH), that is even rarer, with only 5 cases, including the present case, reported in the literature. PLH lacks well-defined features and clinically can be mistaken with other lipomatous lesions of the pancreas, including lipoma, pancreatic lipomatosis, PEComa, liposarcoma, and malignant tumors with lipomatous components. Here, we describe a case of PLH in a 70-year-old male with abdominal pain and a lesion, which was preoperatively diagnosed as a pancreatic no functional low-grade neuroendocrine tumor, and subsequent underwent a laparoscopic enucleation of the tumor. The postoperative pathology and immunohistochemical analyses confirmed the diagnosis of PLH.

[Concurrence of primary extramammary Paget's disease of the vulva and vulval intra-epithelial neoplasia: A case report]. / Enfermedad de Paget extramamario primario de vulva concurrente con Lesión intraepitelial escamosa vulvar: reporte de caso.

Extramammary Paget's disease and intraepithelial vulvar neoplasia are common lesions in the vulva. However, their simultaneous occurrence is extremely rare. We present the case of a 77year-old woman who presented with a 16month history of pruritus and a rash in the vulvar region with gradually increasing bleeding. She underwent a right hemivulvectomy and a left simple vulvectomy. The histopathology revealed a coexistence of both Paget's disease and high grade intraepithelial vulvar neoplasia.

Hamartoma lipomatoso pancreático: Reporte de caso y revisión de la literatura

Los hamartomas pancreáticos (HP) son lesiones no neoplásicas extremadamente inusuales y representan < 1% de todos los hamartomas. Además, existe una variante distintiva denominada Hamartoma Lipomatoso Pancreático (HLP), que es aún más raro, con solo 5 casos, incluyendo el presente reporte, descritos en la literatura. HLP carecen de características específicas y clínicamente puede ser confundido con otras lesiones lipomatosas pancreáticas, como lipoma, lipomatosis pancreática, PEComa, liposarcoma y tumores malignos con componentes lipomatosos. El presente reporte describe un caso de HLP en un paciente varón de 70 años, que aquejaba de dolor y masa abdominal, preoperatoriamente diagnosticado como tumor neuroendocrino de bajo grado no funcionante pancreático. Subsecuentemente, fue sometido a enucleación laparoscópica del tumor. El reporte patológico postoperatorio y los estudios de inmunohistoquímica confirmaron el diagnóstico de HLP.

Pancreatic hamartomas (PH) are extremely unusual non-neoplastic tumor-like lesions and accounts for <1% of all hamartomas. Moreover, there is a distinct variant of PH denominated Pancreatic lipomatous hamartoma (PLH), that is even rarer, with only 5 cases, including the present case, reported in the literature. PLH lacks well-defined features and clinically can be mistaken with other lipomatous lesions of the pancreas, including lipoma, pancreatic lipomatosis, PEComa, liposarcoma, and malignant tumors with lipomatous components. Here, we describe a case of PLH in a 70-year-old male with abdominal pain and a lesion, which was preoperatively diagnosed as a pancreatic no functional low-grade neuroendocrine tumor, and subsequent underwent a laparoscopic enucleation of the tumor. The postoperative pathology and immunohistochemical analyses confirmed the diagnosis of PLH.

Gonadoblastoma in a patient with 45,X/46XY mosaicism.

45,X/46,XY mosaicism is a sex development disorder with an estimated incidence of less than 1 in 15,000 live births. Various studies have shown there is an increased risk of germ cell tumours forming in Mosaic Turner syndrome. This includes gonadoblastoma, a clinically benign mixed germ-stromal cell tumour. However, this can later develop into one or several malignant germ cell neoplasms, for which early prophylactic gonadectomy is often recommended in patients with 45,X/46,XY mosaicism. The study presents the case of an 11-year-old patient diagnosed with a Mosaic Turner syndrome karyotype, who underwent prophylactic bilateral gonadectomy.

[Ectopic hepatocellular carcinoma. A case report]. / Carcinoma hepatocelular ectópico: reporte de caso y revisión de la literatura.

Ectopic liver (EL) is a rare developmental anomaly caused by the migration of hepatic cells to other locations during embryogenesis. Its incidence is thought to be between 0.24 and 0.47% and can occur in various sites, although the gall bladder is the most frequent. Approximately 100 cases of EL have been published, of which 28 developed hepatocellular carcinoma, whilst the orthotopic liver was unaffected. All cases are reported in Asian and Caucasian patients. We report the case of a 42-year-old patient with a solid lesion measuring 17×12×12cm apparently arising from the posterior wall of the stomach, displacing various organs and suggestive of a gastrointestinal stromal tumour (GIST). The liver, biliary tract and other structures were unremarkable. Histopathology revealed a diagnosis of hepatocellular carcinoma in ectopic liver tissue.

[Colloid Carcinoma of the pancreas and synchronous gastrointestinal stromal tumour of stomach. A case report and review of the literature]. / Carcinoma coloide pancreático y tumor del estroma gastrointestinal del estómago sincrónicos: reporte de caso y revisión de la literatura.

Colloid carcinoma (CC) is a rare histological type of adenocarcinoma of the pancreatic duct and is characterized by the presence of large lakes of extracellular mucin containing neoplastic cells. Its 5 year prognosis is more favourable than that of ductal, tubular or not otherwise specified (NOS) adenocarcinomas. We present the case of a 74-year-old woman with a thin walled, multicystic lesion in the tail of the pancreas, radiologically suggestive of a serous cystadenoma as opposed to a mucinous neoplasm. Surgery revealed a 10 x 6 cm lesion invading the splenic hilum and transverse mesocolon. Two nodes on the wall of the gastric fundus were also removed. Histopathology showed the pancreatic tumour to be a colloid carcinoma with a synchronous gastrointestinal stromal tumour of the gastric fundus.

Metástasis gástrica de tumor de células germinales mixto primario testicular: reporte de caso / Gastric metastasis of primary testicular mixed germ cell tumor: A case report

RESUMEN El cáncer de testículo es el tumor sólido más común en los varones de 15 a 29 años. Puede producirse metástasis por vía hematógena o linfática a distintos órganos como pulmón e hígado (usuales) y estómago (inusual). Se presenta el caso de un varón de 30 años que cursa con hemorragia digestiva alta por dos úlceras en el cuerpo gástrico con histología de neoplasia maligna indiferenciada de células pequeñas. En las tomografías se observa tumor testicular derecho con implantes secundarios en cerebro, pulmón, hígado y bazo. Se estudia β-HCG (35 5354 mUI/ml), AFP (500 ng/mL) y DHL (1669 UI/L). Se realiza una orquiectomía radical derecha y se concluyeque es un tumor de células germinales primario de testículo derecho de estadio clínico IIIC por metástasis hepática, esplénica, pulmonar, gástrica y cerebral.

ABSTRACT Testicular cancer is the most common solid tumor in men between ages 15 and 29. It can metastasize through the hematogenous or lymphatic routes to different organs such as the lung and liver (common) and the stomach (uncommon). We present the case of a 30-year-old male patient with upper gastrointestinal bleeding due to two ulcers in the stomach body with histology of unspecified small-cell malignant neoplasm. CT scans showed a right testicular tumor with secondary implants in the brain, lung, liver and spleen. β-HCG (35,5354 mIU/mL), AFP (500 ng/mL) and LDH (1,669 IU/L) tests were conducted. A right radical orchiectomy was performed. It is concluded that this was a clinical stage IIIC primary germ cell tumor of the right testis due to liver, spleen, lung, gastric and brain metastases.

[Mucinous cystic neoplasm of the liver: a case report and review of the literature]. / Neoplasia quística mucinosa hepática: reporte de caso y revisión de la literatura.

Mucinous cystic neoplasm (MCN) of the liver is an unusual cyst-forming epithelial neoplasm, typically showing no communication with the bile ducts. This neoplasm represents less than 5% of all cystic lesions of the liver and there are only 250 cases in the world literature. We present the case of a 23-year-old female with a 13.5 x 10.2 cm lesion, hypodense, lobulated, with multiple septa up to 2.5 mm thick and small cystic images inside, which produces intrahepatic bile duct and common bile duct dilatation. The pathological study concluded that the tumor corresponded to a mucinous cystic neoplasm of the liver.

Carcinoma adenoescamoso de colon: reporte de caso y revisión de la literatura / Adenosquamous carcinoma of the colon: a case report and review of the literature

RESUMEN El cáncer colorectal es el tercer tipo de neoplasia maligna más frecuentemente diagnosticada para ambos sexos. El adenocarcinoma es el tipo histológico que constituye el 86% de todos los casos de carcinoma colónico; sin embargo, existen otros subtipos menos frecuentes, como el carcinoma adenoescamoso, una neoplasia sumamente rara, pero con peor pronóstico y menor sobrevida. Presentamos el caso de una paciente mujer de 68 años con un tiempo de enfermedad de 2 años, caracterizado por anemia, hematoquezia y dolor abdominal. El estudio colonoscópico reveló la presencia de tumoración a nivel de colon ascendente, el cual luego de la resección quirúrgica y estudios anatomopatológicos, resultó corresponder a un carcinoma adenoescamoso primario colónico.

ABSTRACT Colorectal cancer is the third most frequently diagnosed cancer in both men and women. Adenocarcinoma is the most common pathologic subtype of colon cancer and constitutes 86% of all colon cancers. Nontheless, there are other less frequent sybtyes of colorectal carcinomas, such as adenosquamous carcinoma, an extremely rare form of colon cancer, but with worse prognosis and greater potential of metástasis. We present the case of a 68-year-old female presented with a two-month history of anemia, hematochezia and abdominal pain. The colonoscopic study presented a tumor in the ascending colon, which after surgical resection and pathological studies, turned out to be a primary colonoc adenosquamous carcinoma.

Clinicopathological factors associated with the presence of tumor deposits in resected gastric cancer patients.

PURPOSE: The role of tumor deposits (TDs) in the staging of gastric cancer is currently debatable. TDs are defined as tumoral nodules in perigastric adipose tissue with no evidence of lymphatic, vascular, or neural structures. Clinicopathological factors related to the presence of TDs are not well defined. This study aimed to identify the clinicopathological factors associated with the presence of TDs in resected gastric cancer patients. MATERIALS AND METHODS: This prospective study included patients diagnosed with gastric cancer and treated with D2 radical gastrectomy from January 2019 to January 2020. Univariate and multivariate analyses were performed to determine the factors related to the presence of TDs. RESULTS: A total of 111 patients were eligible and TDs were present in 31 of them (28%). In the univariate analysis, male gender (p = 0.027), tumor size ≥ 5cm (p = ≤0.001), serosa and adjacent organs invasion (pT4a and pT4b) (p = ≤0.001), ≥16 metastatic lymph nodes (pN3b) (p = ≤0.001), and TNM stage III tumors (p = ≤0.001) were significantly associated with the presence of TDs. The multivariate analysis showed that a tumors size ≥5 cm (OR = 3.69, 95% CI: 1.17-11.6), serosa and adjacent organs invasion (pT4a and pT4b) (OR = 3.78, 95% CI: 1.31-10.86) and ≥16 metastatic lymph nodes (pN3b) (OR = 3.21, 95%CI:1.06-9.7) were independent risk factors for the presence of TDs. CONCLUSIONS: Larger tumors (tumor size ≥ 5cm), serosa and adjacent organs invasion (pT4 and pT4b), and ≥16 metastatic lymph nodes (pN3b) were independent risk factors for the presence of TDs.

Neoplasia quística mucinosa hepática: reporte de caso y revisión de la literatura

La neoplasia quística mucinosa (NQM) primaria de hígado es una neoplasia poco usual de tipo epitelial que se caracteriza por la formación de quistes y que típicamente no tienen comunicación con los ductos biliares. Representa menos del 5% de todas las lesiones quísticas del hígado y existen solo 250 casos en la literatura mundial. Presentamos el caso de una paciente mujer de 23 años con una lesión de 13,5 x 10,2 cm, hipodensa, lobulada, con múltiples tabiques de hasta 2,5 mm de espesor y pequeñas imágenes quísticas en su interior, que condiciona dilatación de la vía biliar intrahepática a predominio izquierdo y del colédoco. El estudio anatomopatológico concluyó que la tumoración correspondía a una neoplasia quística mucinosa de hígado.

Mucinous cystic neoplasm (MCN) of the liver is an unusual cyst-forming epithelial neoplasm, typically showing no communication with the bile ducts. This neoplasm represents less than 5% of all cystic lesions of the liver and there are only 250 cases in the world literature. We present the case of a 23-year-old female with a 13.5 x 10.2 cm lesion, hypodense, lobulated, with multiple septa up to 2.5 mm thick and small cystic images inside, which produces intrahepatic bile duct and common bile duct dilatation. The pathological study concluded that the tumor corresponded to a mucinous cystic neoplasm of the liver.

[Adenosquamous carcinoma of the colon: a case report and review of the literature]. / Carcinoma adenoescamoso de colon: reporte de caso y revisión de la literatura.

Colorectal cancer is the third most frequently diagnosed cancer in both men and women. Adenocarcinoma is the most common pathologic subtype of colon cancer and constitutes 86% of all colon cancers. Nontheless, there are other less frequent sybtyes of colorectal carcinomas, such as adenosquamous carcinoma, an extremely rare form of colon cancer, but with worse prognosis and greater potential of metástasis. We present the case of a 68-year-old female presented with a two-month history of anemia, hematochezia and abdominal pain. The colonoscopic study presented a tumor in the ascending colon, which after surgical resection and pathological studies, turned out to be a primary colonoc adenosquamous carcinoma.

[Appendicular desmoid tumor: unusual case and review of the literature]. / Fibromatosis tipo desmoide de apéndice cecal: reporte de caso inusual y revisión de la literatura.

BACKGROUND: Desmoid type fibromatosis is a benign neoplastic process non-encapsulated locally invasive and aggressive, which arises from a proliferation of bland-looking fibroblasts and myofibroblasts. The most frequent location of fibromatosis is extraabdominal (60%), abdominal wall (25%) and intra-abdominal (8-15%), rarely can originate in the viscera (0.73%), such as the pancreas, gastroesophageal junction, diaphragm and appendix. The annual incidence of desmoid tumor is estimated at 2 to 5 cases per million. In this article, we report a case of unusual presentation, originated in the cecal appendix. CASE: A 41-year-old female patient with acute pelvic pain, admitted to surgical ward with a clinical and ultrasound diagnosis of probably ovarian pedicle tumor. An explorative laparotomy revealed a solid mass of 15 cm in diameter arising from the cecal appendix, with the anatomopathological study corresponding to a desmoid tumor of the cecal appendix. CONCLUSIONS: The desmoid tumor can arise from several extra and intra-abdominal locations, the latter being the rarest and most aggressive. Accurate preoperative diagnosis is very difficult and almost always patients enter to surgery with suspected diagnosis of intraabdominal tumor of unknown etiology. The risk factors associated to its appearance are not yet characterized. The complete surgical resection of the tumor -with free surgical margins (R0)- is the treatment of choice; however, the risk of recurrence is high even with optimal tumor removal.

Fibromatosis tipo desmoide de apéndice cecal: reporte de caso inusual y revisión de la literatura / Appendicular desmoid tumor: unusual case and review of the literature

RESUMEN Antecedente : La fibromatosis tipo desmoide es un proceso neoplásico benigno no encapsulado localmente invasivo y agresivo, que se origina de la proliferación de fibroblastos y miofibroblastos aparentemente normales. La localización más frecuente de la fibromatosis es extra-abdominal (60%), pared abdominal (25%) e intra-abdominal (8-15%), en raras ocasiones puede originarse en las vísceras (0,73%), como el páncreas, unión gastroesofágica, diafragma y apéndice. La incidencia anual de tumor desmoide se estima de 2 a 5 casos por millón. En el presente artículo, reportamos un caso de presentación inusual, originado en el apéndice cecal. Caso : Paciente de sexo femenino de 41 años con dolor pélvico agudo, que ingresa a sala de operaciones con diagnóstico clínico y ecográfico de probable tumor de ovario a pedículo torcido. En el intraoperatorio se evidenció una tumoración sólida de 15 cm de diámetro que dependía del apéndice cecal, correspondiendo el estudio anatomopatológico a tumor desmoide de apéndice cecal. Conclusiones : El tumor desmoide puede originarse en diversas localizaciones extra e intra-abdominales, siendo esta última la más rara y agresiva. El diagnóstico preoperatorio exacto es muy difícil y casi siempre los pacientes ingresan al quirófano con sospecha diagnostica de tumoración intraabdominal de etiología desconocida. Los factores de riesgos asociados a su aparición aún no se encuentran caracterizados, siendo la resección quirúrgica completa del tumor -con márgenes quirúrgicos libres (R0)- el tratamiento de elección; sin embargo, el riesgo de recurrencia es alto incluso con la remoción óptima del tumor.

ABSTRACT Background : Desmoid type fibromatosis is a benign neoplastic process non-encapsulated locally invasive and aggressive, which arises from a proliferation of bland-looking fibroblasts and myofibroblasts. The most frequent location of fibromatosis is extra- abdominal (60%), abdominal wall (25%) and intra-abdominal (8-15%), rarely can originate in the viscera (0.73%), such as the pancreas, gastroesophageal junction, diaphragm and appendix. The annual incidence of desmoid tumor is estimated at 2 to 5 cases per million. In this article, we report a case of unusual presentation, originated in the cecal appendix. Case : A 41-year-old female patient with acute pelvic pain, admitted to surgical ward with a clinical and ultrasound diagnosis of probably ovarian pedicle tumor. An explorative laparotomy revealed a solid mass of 15 cm in diameter arising from the cecal appendix, with the anatomopathological study corresponding to a desmoid tumor of the cecal appendix. Conclusions : The desmoid tumor can arise from several extra and intra-abdominal locations, the latter being the rarest and most aggressive. Accurate preoperative diagnosis is very difficult and almost always patients enter to surgery with suspected diagnosis of intraabdominal tumor of unknown etiology. The risk factors associated to its appearance are not yet characterized. The complete surgical resection of the tumor -with free surgical margins (R0)- is the treatment of choice; however, the risk of recurrence is high even with optimal tumor removal.

Amiloidosis cardiaca: reporte de un caso / Cardiac amyloidosis: a case report

La amiloidosis cardiaca es una entidad clínica poco frecuente y por tanto poco conocida. Su presentación, por ser una enfermedad infiltrativa debido al depósito extracelular del amiloide en la pared cardiaca, es la de una cardiomiopatía del tipo restrictivo, que si bien puede ser sistémica, es la afección cardiaca la que determina su mal pronóstico. Se presenta el caso de un paciente de 38 años de edad, que fue hospitalizado por disnea y fatiga severa, y al que se diagnosticó mieloma múltiple IgA de cadenas ligeras lambda, estadio clínico IIIB, e inició tratamiento con ciclofosfamida, talidomida y dexametasona. El paciente abandonó el tratamiento y regresó luego de un año y 2 meses con la enfermedad avanzada y con presencia de amiloidosis. El paciente evoluciona tórpidamente y fallece.Se realiza una revisión de la literatura médica sobre los tipos de amiloidosis, la fisiopatología, los métodos diagnósticos y el tratamiento.

Cardiac amyloidosis is a rare clinical entity and, therefore, almost unknown. It shows as a restrictive cardiomyopathy, since it is an infiltrative disease caused by the extracellular deposition of amyloids in the cardiac wall. Although it may be systemic, the heart condition determines its poor prognosis. This is the case of a 38-year-old patient who was admitted for dyspnea and severe fatigue. He was diagnosed with IgA multiple myeloma, lambda light chains, clinical stage IIIB, and initiated treatment with cyclophosphamide, thalidomide and dexamethasone. The patient stopped the treatment, and returned after one year and 2 months with an advanced disease and presence of amyloidosis. The patient progressed torpidly and eventually died. A review of the medical literature is performed concerning amyloidosis types, physiopathology, diagnostic methods and treatment.

Tumor sólido pseudopapilar de páncreas: Tumor de Frantz / Solid pseudopapillary tumor of the pancreas: Frantz´s tumor

El tumor pseudopapilar de páncreas, también conocido como tumor de Frantz, es una enfermedad muy rara en nuestro medio, comprende menos del 3 % de los tumores pancreáticos (1). Su etiología es desconocida, y su incidencia se observa en mujeres jóvenes con predominancia de la tercera década de la vida. Presentamos el caso de una mujer de 23 años que ingresa por epigastralgia urente desde hace 3 meses, además de llenura precoz. Al examen presenta dolor a la palpación profunda. Cuenta con perfil bioquímico, hepático, marcadores tumorales dentro de valores normales, la tomografía espiral multicorte (TEM) abdomino-pélvica reporta lesión neoformativa sólida quística de morfología redondeada de bordes bien definidos, la patología confirma tumor sólido pseudopapilar de páncreas. La paciente se somete a resección de tumor, con evolución favorable.

The solid pseudopapillary tumor of the pancreas, also known as Frantz's tumor, is a very rare disease in our country, comprising less than 3 % of pancreatic tumors (1). Its etiology is unknown and it is predominantly found in young women in their third decade of life. We present the case of a 23-year-old woman who was admitted due to a 3-month burning epigastralgia and early satiety. On examination, she had pain with deep palpation. Her biochemical profile, liver profile, and tumor markers were within normal values. An abdomen and pelvis multislice helical/spiral computed tomography (CT) scan showed a solid cystic neoformative lesion with rounded structure and well-defined borders. Pathology confirmed a solid pseudopapillary tumor of the pancreas. The patient underwent a tumor resection with favorable evolution.

Gastritis staging as a clinical priority.

The elective background for gastric adenocarcinoma is the atrophic transformation of the gastric mucosa. The extent of mucosal atrophy basically parallels the risk of developing gastric cancer. This means that either noninvasive (serology) or invasive (endoscopy/histology) methods enabling the atrophic transformation to be quantified can be used theoretically to assess a given patient's gastric cancer risk. This review aims to focus on the reliability of histology gastritis Operative Link for Gastritis Assessment -staging system for assessing the 'personalized' cancer risk in individuals with (atrophic) gastritis.

[Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplasicas (INEN), Lima, Peru;]. / Síndromes hereditarios de predisposición al cáncer colorrectal identificados en el Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Perú

BACKGROUND: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited síndromes that predispose to CRC. OBJECTIVE: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). MATERIAL AND METHODS: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013. We included patients with personal or familiar history of CRC and/or colonic polyposis who were referred for clinical assessment to the Oncogenetics Unitat INEN. RESULTS: 59.3 % were female, 40.7 % male, 69.8% under 50 years old, 60.5% had a single CRC, 23.2% had more than one CRC or CRC associated with other extracolonic neoplasia and 32.6% had a familiar history of cancer with autosomal dominant inheritance. According to the clinical genetic diagnosis, 93.1% of the included cases were inherited syndromes that predispose to CRC, with 33.8% of colonic polyposis syndromes, 23.3% of hereditary nonpolyposis CRC syndromes (HNPCC) and 36.0% of CCRHNP probable cases. CONCLUSIONS: Clinical genetic evaluation of patients with personal or familiar history of CRC and/or colonic polyposis can identify inherited colorectal cancer predisposition syndromes and provide an appropriategenetic counseling to patients and relatives at risk, establishing guidelines to follow-up and prevention strategies to prevent morbidity and mortality by cancer.

Síndromes hereditarios de predisposición al cáncer colorrectal identificados en el Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Perú / Inherited colorectal cancer predisposition syndromes identified in the Instituto Nacional de Enfermedades Neoplásicas (INEN), Lima, Peru

Introducción: El cáncer colorrectal (CCR) es la cuarta neoplasia más frecuente en el mundo y según el origen de las alteraciones en el genoma de las células, el CCR se clasifica en esporádico (~70%) y genético (~30%), éste último involucra a los síndromes hereditarios de predisposición al CCR. Objetivo: Describir los síndromes hereditarios de predisposición al CCR, polipósicos y no polipósicos, identificados en el consultorio de Oncogenética del INEN. Material y métodos: Estudio descriptivo observacional a partir del registro de atenciones en el consultorio de Oncogenética del INEN durante el periodo 2009 al 2013. Se incluyeron a los pacientes con antecedentes personales o familiares de CCR y/o con poliposis colónica que fueron referidos para la evaluación clínica genética al consultorio de Oncogenética del INEN. Resultados: El 59,3% fueron mujeres, 40,7% varones, 69,8% fueron menores de 50 años, 60,5% presentó un CCR único, 23,2% más de un CCR o un CCR asociado a otra neoplasia extracolónica y el 32,6% poseían antecedentes familiares de cáncer con patrón de herencia autosómico dominante. Según el diagnóstico clínico genético, el 93,1% de los casos incluidos correspondieron a síndromes hereditarios de predisposición al CCR, siendo el 33,8% síndromes de poliposis colónica, 23,3% síndromes de CCR hereditario no polipósico (CCRHNP) y el 36,0% casos probables de síndrome CCRHNP. Conclusiones: La evaluación clínica genética de los pacientes con antecedentes personales o familiares de CCR y/o con poliposis colónica permite identificar a los síndromes hereditarios de predisposición al CCR y brindar una adecuada asesoría genética al paciente y familiares en riesgo, estableciendo medidas de seguimiento y estrategias de prevención a fin de evitar la morbimortalidad por cáncer.

Background: Colorectal cancer (CRC) is the fourth most common cancer in the world and is classified according to their origin in sporadic CRC (~ 70%) and genetic CRC (~ 30%), this latter involves cases of familial aggregation and inherited syndromes that predispose to CRC. Objective: To describe inherited CRC predisposition syndromes, polyposic and non-polyposic, identified in the Oncogenetics Unit at National Institute of Cancer Disease (INEN). Material and methods: A descriptive observational record from the attentions of the Oncogenetics Unit at INEN during 2009 to 2013. We included patients with personal or familiar history of CRC and/or colonic polyposis who were referred for clinical assessment to the Oncogenetics Unit at INEN. Results: 59.3 % were female, 40.7 % male, 69.8% under 50 years old, 60.5% had a single CRC, 23.2% had more than one CRC or CRC associated with other extracolonic neoplasia and 32.6% had a familiar history of cancer with autosomal dominant inheritance. According to the clinical genetic diagnosis, 93.1% of the included cases were inherited syndromes that predispose to CRC, with 33.8% of colonic polyposis syndromes, 23.3% of hereditary nonpolyposis CRC syndromes (HNPCC) and 36.0% of CCRHNP probable cases. Conclusions: Clinical genetic evaluation of patients with personal or familiar history of CRC and/or colonic polyposis can identify inherited colorectal cancer predisposition syndromes and provide an appropriate genetic counseling to patients and relatives at risk, establishing guidelines to follow-up and prevention strategies to prevent morbidity and mortality by cancer.