Resumo O complexo da esclerose tuberosa (CET) é uma doença autossômica dominante caracterizada pelo desenvolvimento de hamartomas no sistema nervoso central, coração, pele, pulmões e rins e outras manifestações, incluindo convulsões, tubérculos corticais, linhas de migração radial, autismo e deficiência cognitiva. A doença está associada a variantes patogênicas nos genes TSC1 ou TSC2, resultando na hiperativação da via mTOR, um importante regulador do crescimento e metabolismo celular. Consequentemente, a hiperativação da via mTOR leva à proliferação anormal do tecido e ao desenvolvimento de tumores sólidos. O envolvimento renal no CET é caracterizado pelo desenvolvimento de lesões císticas, carcinoma de células renais e angiomiolipomas renais, que podem progredir e causar dor, sangramento e perda da função renal. Nos últimos anos, houve uma mudança notável na abordagem terapêutica do CET, especialmente no tratamento das manifestações renais. Os inibidores de mTOR surgiram como a principal opção terapêutica, enquanto intervenções cirúrgicas como nefrectomia e embolização são reservadas principalmente para complicações que não respondem ao tratamento clínico, como hemorragia renal grave. Esta revisão se concentra nas principais características clínicas do CET, nos mecanismos subjacentes ao envolvimento renal, nos recentes avanços na terapia para lesões renais e nas perspectivas futuras. (CET central coração pele convulsões corticais radial cognitiva TSC TSC2 celular Consequentemente sólidos císticas dor anos clínico grave futuras

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin, lungs, and kidneys and other manifestations including seizures, cortical tubers, radial migration lines, autism and cognitive disability. The disease is associated with pathogenic variants in the TSC1 or TSC2 genes, resulting in the hyperactivation of the mTOR pathway, a key regulator of cell growth and metabolism. Consequently, the hyperactivation of the mTOR pathway leads to abnormal tissue proliferation and the development of solid tumors. Kidney involvement in TSC is characterized by the development of cystic lesions, renal cell carcinoma and renal angiomyolipomas, which may progress and cause pain, bleeding, and loss of kidney function. Over the past years, there has been a notable shift in the therapeutic approach to TSC, particularly in addressing renal manifestations. mTOR inhibitors have emerged as the primary therapeutic option, whereas surgical interventions like nephrectomy and embolization being reserved primarily for complications unresponsive to clinical treatment, such as severe renal hemorrhage. This review focuses on the main clinical characteristics of TSC, the mechanisms underlying kidney involvement, the recent advances in therapy for kidney lesions, and the future perspectives. (TSC system heart skin lungs seizures tubers lines disability genes metabolism Consequently tumors lesions angiomyolipomas pain bleeding function years option treatment hemorrhage perspectives

Abstract Introduction. Gastric duplications are rare congenital entities that are diagnosed primarily in early life, and rarely in adult patients. The objective of this article was to present the case of an adult with this pathology, successfully treated by surgery. Clinical case. A 26-year-old woman with chronic epigastralgia refractory to medical management, who during upper digestive endoscopy was identified with a cystic lesion suggestive of gastro-intestinal stromal tumor, confirmed by endoscopic ultrasound. Results. A laparoscopic surgical resection assisted by endoscopy was performed, with good postoperative evolution. The anatomopathological study reported the presence of a gastric duplication cyst. Conclusions. Despite the diagnostic adjuncts currently available, this pathology represents an important diagnostic challenge that, in many cases, can only be confirmed through pathology. In asymptomatic patients, the controversy continues between observing them or taking them to surgery due to the risk of malignancy. Currently, the management of gastric duplications in adults is considered eminently surgical. Laparoscopic resections and the use of intraoperative endoscopy ensure complete resection of the lesion, preserving the greatest amount of adjacent healthy tissue and preventing gastric stenosis or deformities that affect its proper functioning.

Resumen Introducción. Las duplicaciones gástricas son entidades congénitas poco frecuentes que se diagnostican principalmente en las etapas tempranas de la vida, y rara vez en pacientes adultos. El objetivo de este artículo fue presentar el caso de un adulto con esta patología, tratado exitosamente mediante cirugía. Caso clínico. Mujer de 26 años de edad con epigastralgia crónica refractaria a manejo médico, a quien durante endoscopia digestiva superior se le identificó una lesión quística sugestiva de tumor estromal gastrointestinal, confirmada por ultrasonido endoscópico. Resultados. Se realizó una resección quirúrgica laparoscópica asistida por endoscopia, con buena evolución postoperatoria. El estudio anatomo-patológico informó la presencia de un quiste de duplicación gástrica. Conclusiones. A pesar de las ayudas diagnósticas disponibles en la actualidad, esta patología representa un reto diagnóstico importante que, en muchas ocasiones solo puede ser confirmado mediante el estudio anatomo-patológico. En paciente asintomático, continúa la controversia entre observarlo o llevarlo a cirugía, por el riesgo de malignidad. Actualmente, el manejo de las duplicaciones gástricas en adultos se considera eminentemente quirúrgico. Las resecciones laparoscópicas y el uso de endoscopia intraoperatoria permiten garantizar la resección completa de la lesión, preservando la mayor cantidad de tejido sano adyacente y previniendo estenosis o deformidades gástricas que afecten su adecuado funcionamiento.

Resumen Los cistoadenocarcinomas mucinosos primarios re troperitoneales (CMPR) son tumores extremadamente raros con una comprensión limitada de su patogénesis y comportamiento biológico. Describimos el caso de una mujer de 50 años some tida a tratamiento quirúrgico. La paciente tenía antece dentes de cirugías previas por cistodenoma mucinoso mesentérico, sin evidencia de recurrencia. Durante una ecografía abdominal de rutina se encontró un nuevo tumor. Se realizó una resonancia magnética abdomen que confirmó la presencia de una lesión quística en la fosa ilíaca derecha. Luego de discutir el caso en el comité multidisci plinario, se realizó con éxito la resección quirúrgica completa del tumor, junto con la anexectomía bilateral. El examen histopatológico reveló un adenocarcinoma mucinoso adyacente a un cistodenoma mucinoso. El análisis inmunohistoquímico apoyó el diagnóstico de lesión primaria retroperitoneal. La paciente tuvo una buena recuperación y permaneció libre de enfermedad durante dos años de seguimiento postoperatorio. Los CMPR son difíciles de diagnosticar debido a que presentan síntomas inespecíficos. La escisión quirúrgica es la base del tratamiento. El pronóstico a largo plazo y las estrategias terapéuticas óptimas requieren más investigación.

Abstract Primary retroperitoneal mucinous cystadenocarci nomas (PRMCs) are extremely rare tumors with limited understanding of their pathogenesis and biological be havior. We describe a case of a 50-year-old female patient who underwent surgical treatment. The patient had a history of previous surgeries for mesenteric mucinous cystadenoma, without evidence of recurrence. During routine abdominal ultrasound a new tumor was found. An abdomen magnetic resonance imaging was done and confirmed the presence of a cystic lesion in the right iliac fossa. After discussion in multidisciplinary committee, surgical complete resection of the tumor, along with bilateral adnexectomy, was performed successfully. Histopathological examination revealed a mucinous adenocarcinoma adjacent to a mucinous cystadenoma. Immunohistochemical analysis supported the diagnosis of a primary retroperitoneal lesion. The patient had an uneventful recovery and has remained disease-free du ring the two-year postoperative follow-up. PRMCs are challenging to diagnose preoperatively due to nonspecific symptoms. Surgical excision is the mainstay of treatment. The long-term prognosis and op timal therapeutic strategies require further investigation.

Abstract Introduction. Cystic pneumatosis intestinalis is described as the presence of gas within the intestinal wall. It is a rare entity, with an incidence of 0.03% in the global population. It appears with a predilection in the male gender after 45 years of age and is located mainly in the small intestine (42%) and the colon. It can be associated with several conditions that sometimes require surgical management. Clinical case. The case of a 75-year-old man with a history of high blood pressure is presented, who consulted for a 15-day history consisting of abdominal distention, pain and constipation. In the emergency room, a chest x-ray was requested, which showed pneumoperitoneum and several air-fluid levels. The surgeon on call considered a possible rupture of the hollow viscus. Results. The patient was taken to exploratory laparotomy, where intestinal cystic pneumatosis and a greatly enlarged stomach were identified, compatible with gastroparesis. As a result of the treatment provided, the patient had a satisfactory outcome, achieving medical discharge, supported with basic nursing care. Conclusions. Although cases of intestinal cystic pneumatosis have an unusual presentation, it can be found in patients with imaging findings of pneumoperitoneum. Therefore, a thorough analysis of each patient must be carried out and the case individualized for the correct diagnosis.

Resumen Introducción. La neumatosis quística intestinal se describe como la presencia de gas dentro de la pared intestinal. Es una entidad poco frecuente, con una incidencia del 0,03 % en la población global. Aparece con predilección en el género masculino después de los 45 años y se localiza principalmente en el intestino delgado (42 %) y el colon. Se puede asociar a varias condiciones que en ocasiones requieren manejo quirúrgico. Caso clínico. Se presenta el caso de un hombre 75 años, con antecedente de hipertensión arterial, quien consultó por un cuadro de 15 días de evolución consistente en distensión abdominal, dolor y estreñimiento. En urgencias se solicitó una radiografía de tórax que mostró neumoperitoneo y varios niveles hidroaéreos, por lo que el cirujano de turno consideró una posible ruptura de víscera hueca. Resultados. Fue llevado a laparotomía exploratoria, donde se identificó neumatosis quística intestinal y estómago muy aumentado de tamaño, compatible con gastroparesia. Como resultado del tratamiento brindado, el paciente tuvo un desenlace satisfactorio logrando alta médica, apoyado con cuidados básicos de enfermería. Conclusiones. Si bien los casos de neumatosis quística intestinal son de presentación inusual, se puede encontrar en pacientes con hallazgos imagenológicos de neumoperitoneo. Por eso, se debe realizar un análisis concienzudo de cada paciente e individualizar el caso para el correcto diagnóstico.

Resumen La neumatosis intestinal se define como la presencia de gas en la pared intestinal. Su patogenia no está claramente comprendida, es idiopática en el 15% de los casos y es una manifestación secundaria de enfermedades gastrointestinales y no gastrointestinales en el 85% de los casos. En los casos secundarios, existe gran variedad de etiologías y el tratamiento debe ir dirigido a la enfermedad primaria. Pueden cursar con neumoperitoneo y no necesariamente requieren manejo quirúrgico. Se presenta el caso clínico de un paciente masculino, adulto medio con dolor abdominal, hallazgos endoscópicos e imagenológicos de neumatosis intestinal y lesiones compatibles con linfoma colorrectal. Se realiza, además, una revisión de la literatura sobre esta condición.

Abstract Intestinal pneumatosis is defined as the presence of gas within the intestinal wall. Its pathogenesis is not fully understood; it is idiopathic in 15% of cases and a secondary manifestation of gastrointestinal and non-gastrointestinal diseases in 85% of cases. In secondary cases, there is a wide range of etiologies, and treatment should be directed at the primary disease. Pneumatosis can present with pneumoperitoneum and does not necessarily require surgical management. This report presents the clinical case of a middle-aged male patient with abdominal pain, endoscopic and imaging findings of intestinal pneumatosis, and lesions consistent with colorectal lymphoma. Additionally, a literature review on this condition is provided.

BACKGROUND: To document a case of a dentigerous cyst of inflammatory origin which developed due to periapical infection from a grossly carious deciduous tooth METHODS: An 11-year-old male patient presented with a 4-month history of swelling within the right mandible. Radiological examination showed a cystic lesion in association with an impacted, displaced tooth 44 with an overlying carious 85. Marked expansion of the buccal bone was noted RESULTS: Due to the special needs of this patient, radical treatment including extraction of tooth 85, enucleation of the cystic lesion as well as extraction of the impacted tooth 44 was performed CONCLUSION: Careful clinicopathological and radiological correlation of a large cystic lesion associated with an impacted tooth in the setting of an overlying grossly carious primary tooth will yield the diagnosis of a dentigerous cyst of inflammatory origin

ABSTRACT Introduction: The aneurysmal bone cyst was described as a hemorrhagic lesion that contains cystic cavities, with thin walls, filled with blood, locally destructive and was not considered a true neoplasm. Objectives: To present a male patient with aneurysmal bone cyst in the hip. Clinical Case: The case of an 18-year-old male is presented, with pain in the right hip, lasting for months, which radiated to the right knee, which increased without improving and was associated with an increase in the volume of the knee. ipsilateral. The radiograph revealed a lytic lesion located in the right trochanteric mass, approximately 8 cm in diameter, multiloculated, with cavities inside and thinning of the cortices; Open incisional biopsy, curettage and filling with heterologous cancellous graft were performed and the tissue was sent to pathology. Conclusions: The aneurysmal bone cyst constitutes a low frequent lesion, which the orthopedist should suspect in the presence of radiological bone images of lytic and multiloculated lesions of an expansive nature.

RESUMEN Introducción: El quiste óseo aneurismático fue descrito como una lesión hemorrágica que contiene cavidades quísticas, de paredes delgadas, llenas de sangre, localmente destructivo y no se considerada una neoplasia verdadera. Objetivos: Presentar a un paciente masculino, con quiste óseo aneurismático en la cadera. Caso Clínico: Se presenta el caso de un varón de 18 años de edad, con dolor en la cadera derecha, de meses de evolución, que se irradia a la rodilla derecha, que fue incrementando sin mejorar y se asoció aumento de volumen de la rodilla ipsilateral. En la radiografía se evidenció una lesión lítica localizada en el macizo trocantérico derecho, de aproximadamente 8 cm de diámetro, multiloculada, con cavidades en su interior y adelgazamiento de las corticales; se realizó biopsia incisional abierta, curetaje y relleno con injerto heterólogo de esponjosa y se envió el tejido a anatomía patológica. Conclusiones: El quiste óseo aneurismático constituye una lesión poco frecuente, que el ortopedista debe sospechar ante imágenes radiológicas óseas de lesiones líticas y multiloculadas de carácter expansivo.

ABSTRACT Introduction: Mucinous neoplasms of the cecal appendix are infrequent. These lesions can be an incidental finding in emergency appendectomies, since their preoperative diagnosis is difficult due to the lack of specificity of their symptoms. Objective: To present a case of low-grade mucinous neoplasia of the cecal appendix. Case Report: A 73-year-old male patient presented with acute abdominal pain, vital signs and laboratory tests within normal limits, and ultrasonography showing a cecal appendix measuring 76 ( 67 ( 107 mm. Radical appendectomy was performed, which included resection of the mesoappendix from the appendicular artery, the antimesenteric border of the ligament of Tréves and the free appendicular base, which included the cecum (cecectomy). In the histopathological examination it was observed that the cecal appendix belonged to 10 ( 8 ( 5 cm with tumor lesion in the base and part of the body; the cut showed outflow of viscous, mucoid, yellowish material, cystic areas of less than 1 cm, congestive vessels, presence of mucous glands with cells showing scarce atypia and an expansive invasion affecting the muscular and mucosal layer with focal loss and slight fibrosis of the submucosa. Low grade cecal appendiceal mucinous neoplasia of the appendix was diagnosed, with resolution and satisfactory evolution of the patient. Conclusions: Mucinous neoplasms of the cecal appendix may be an incidental finding. They have non-specific symptoms, are largely treated by resection and histopathological study is necessary for their diagnosis.

RESUMEN Introducción: Las neoplasias mucinosas del apéndice cecal son infrecuentes. Estas lesiones pueden ser un hallazgo incidental en las apendicetomías realizadas por urgencias, ya que su diagnóstico preoperatorio es difícil por la inespecificidad de sus síntomas. Objetivo: Presentar un caso de neoplasia mucinosa de apéndice cecal de bajo grado. Caso Clínico: Paciente masculino de 73 años de edad, que presenta dolor abdominal agudo, signos vitales y exámenes de laboratorio dentro de los límites normales, ecografía que informa apéndice cecal de 76 ( 67 ( 107 mm. Se realizó apendicetomía radical, que incluyó resección del mesoapéndice desde la arteria apendicular, el borde antimesentérico del ligamento de Tréves y la base apendicular libre, que incluyó el ciego (cequectomía). En el examen histopatológico se observó que al apéndice cecal pertenecen 10 ( 8 ( 5 cm con lesión tumoral en la base y parte del cuerpo; al corte se observó salida de material viscoso, mucoide, amarillento, áreas quísticas de menos de 1 cm, vasos congestivos, presencia de glándulas mucosas con células que muestran escasa atipia y una invasión expansiva que afecta la capa muscularis mucosae con pérdida focal y fibrosis ligera de la submucosa. Se diagnosticó neoplasia mucinosa de apéndice cecal de bajo grado, con resolución y evolución satisfactoria del paciente. Conclusiones: Las neoplasias mucinosas del apéndice cecal pueden resultar un hallazgo incidental. Tienen sintomatología inespecífica, se tratan en gran parte por resección y es necesario el estudio histopatológico para su diagnóstico.

Resumen El pseudomixoma peritoneal (PMP) es una afección poco común, inicialmente descrita en 1884 por Werth en relación con la ascitis y tumores mucinosos de ovario, y posteriormente en 1901 por Frankel, asociado a tumores mucinosos apendiculares. Se ha observado una alta prevalencia de mutaciones en el gen K-RAS y TP53 en pacientes con PMP de bajo grado, lo que desencadena la proliferación y producción excesiva de moco. Los estudios han demostrado que la cavidad peritoneal, especialmente la superficie hepática, es el sitio principal de depósito de estos tumores. La tomografía computada se considera el estándar de oro para el diagnóstico, mientras que la resonancia magnética es más sensible para detectar el origen tumoral y evaluar la extensión de la enfermedad. Aunque la laparotomía exploratoria es el método tradicional para la toma de biopsias, se están explorando alternativas menos invasivas como la biopsia guiada por ultrasonido y tomografía computarizada, que han demostrado ser eficaces. El diagnóstico diferencial incluye la endometriosis y tumores mixoides, con énfasis en la invasión al mesenterio y las características quísticas. Es crucial reconocer las diferencias en etapas avanzadas, ya que el PMP tiende a invadir los órganos desde afuera, mientras que los tumores mixoides presentan metástasis sólidas a distancia.

Abstract Pseudomyxoma peritonei (PMP) is a rare condition, first described by Werth in 1884 in association with ascites and ovarian mucinous tumors, and later in 1901 by Frankel, associated with appendicular mucinous tumors. High prevalence of mutations in the K-RAS and TP53 genes has been observed in patients with low-grade PMP, triggering proliferation and excessive mucus production. Studies have shown that the peritoneal cavity, especially the hepatic surface, is the main site for deposition of these tumors. Computed tomography is considered the gold standard for diagnosis, while magnetic resonance imaging is more sensitive for detecting the tumor origin and assessing disease extent. Although exploratory laparotomy is the traditional method for biopsy, less invasive alternatives such as ultrasound-guided and computed tomography-guided biopsy are being explored, which have proven to be effective. The differential diagnosis includes endometriosis and mixoid tumors, with emphasis on mesentery invasion and cystic characteristics. Recognizing differences in advanced stages is crucial, as PMP tends to invade organs from the outside, while mixoid tumors present distant solid metastases.

Abstract Cystic pelvic masses are a frequent finding in different imaging tests. Sometimes, it is difficult to determine its origin, especially in the female sex. However, clinical history and different imaging tests can help in a correct diagnostic approach. Our purpose is to show different differential diagnoses of cystic pelvic lesions of non-gynecological origin studied in our hospital.

Resumen Las masas pélvicas quísticas son un hallazgo frecuente en las diferentes pruebas de imagen. En ocasiones, determinar su origen es dificultoso, sobre todo en el sexo femenino. Sin embargo, la historia clínica y las diferentes pruebas de imagen pueden ayudar a una correcta aproximación diagnóstica. Nuestro propósito es mostrar diferentes diagnósticos diferenciales de lesiones pélvicas quísticas de origen no ginecológico estudiadas en nuestro hospital.

BACKGROUND. Cystic echinococcosis (CE) is a zoonotic disease with an Africa-wide prevalence of 1.7%. CE is caused by the tapeworm Echinococcus granulosus sensu lato, with the liver being the most commonly affected organ. In South Africa (SA), there is a paucity of data on liver CE demographics and management. OBJECTIVES. To describe the demographics and clinical profile of patients with liver CE in a single tertiary hospital in Eastern Cape Province, SA. METHODS. A 4-year (2019 - 2022) retrospective clinical record review study was conducted on patients presenting with liver CE to the Department of Surgery at Frere Hospital. The demographics, clinical characteristics and management of patients with liver CE are reported. RESULTS. A total of 56 patients diagnosed with and managed for liver CE were included in the study. The mean age of the patients was 37.5 years. Abdominal pain (n=39; 69.6%) was the most common presenting symptom, and a palpable abdominal mass (n=36; 64.3%) was the predominant presenting sign. Most patients had disease confined to the liver (n=35; 62.5%). The right lobe of the liver was most commonly affected (n=38; 67.9%), and most patients had a single liver cyst on imaging (n=32; 57.1%). The majority of the patients ( n=36; 64.3%) were managed with surgical partial cystectomy, with a perioperative bile leak being the most common complication. CONCLUSION. In our setting, liver CE contributes to a significant local burden of the disease. The disease often has a nonspecific clinical presentation, necessitating imaging for the diagnosis. We observed good short-term outcomes in patients managed with combined partial cystectomy and medical therapy, although there is a risk of perioperative bile leak.

Objective: Acinar cystic transformation of the pancreas is a rare pathology that affects mostly middle-aged women. Material and Methods: We present a case of this pathology in a young man who presented with pain in the left hypochondrium and imaging tests revealed a cystic lesion in the pancreatic tail measuring 50x45mm, with linear calcifications. Distal pancreatectomy was performed. Results: The anatomopatho-logical diagnosis was acinar cystic transformation. Discussion: given the difficulty of a preoperative diagnosis, the patient is often subjected to surgery with high morbidity, despite being a benign lesion, as surgical indications for other pancreatic cystic pathologies are followed. The presence of mutations and the fact that some of them also present mucinous epithelial changes would justify discussing the possibility of keeping these patients under long-term surveillance.

Resumen Objetivo: La transformación quística acinar del páncreas es una patología poco frecuente y que afecta en su mayoría a mujeres de mediana edad. Material y Métodos: Presentamos el caso de dicha patología en un varón joven que debutó con dolor en hipocondrio izquierdo y en la pruebas de imagen se evidenció una lesión quística en cola pancreática de 50x45mm, con calcificaciones lineales. Se realizó pancreatectomía distal. Resultados: El diagnóstico anatomopatológico informó de transformación quística acinar. Discusión: Dada la dificultad de un diagnóstico preoperatorio, es frecuente someter al paciente a una intervención quirúrgica con una elevada morbilidad, a pesar de tratarse de una lesión benigna, ya que se siguen las indicaciones quirúrgicas para otras patologías quísticas pancreáticas. La presencia de mutaciones y el hecho de que algunos de ellos también presentan cambios epiteliales mucinosos, justificaría el debatir la posibilidad de mantener a estos pacientes bajo vigilancia a largo plazo.

Resumo O cisto dentígero pode ser classificado como cisto de desenvolvimento ou inflamatório, originando-se durante o processo de separação do folículo que fica aprisionado ao redor da coroa de um dente incluso. O objetivo do presente artigo é relatar um caso clínico de enucleação de cisto dentígero em corpo mandibular à esquerda associado ao primeiro molar inferior (36) incluso com envolvimento do nervo alveolar inferior através da técnica cirúrgica de janela óssea por meio da piezocirurgia. Paciente de 19 anos, sexo masculino, sem comorbidades, com lesão hipodensa, circunscrita, de aproximadamente 15,5 x 27,7 x 14,8 mm identificada em tomografia de feixe cónico. A técnica de janela óssea executada apresenta como vantagem o reposicionamento do segmento ósseo deslocado no transoperatório, favorecendo o processo de reparo, além do acesso direto à área contendo a lesão cística e o elemento incluso.

Abstract A dentigerous cyst can be classified as a developmental or inflammatory cyst. It originates during the process of separation from the follicle that becomes trapped around the crown of an impacted tooth. The purpose of this article is to report a clinical case of enucleation of a dentigerous cyst in the left mandibular body associated with the impacted lower first molar (tooth 36), with involvement of the inferior alveolar nerve, through the bone window surgical technique using piezosurgery. A 19-year-old male patient with no comorbidities presented with a well-defined hypodense lesion of approximately 15.51mm X 27.69mm X 14.79mm in diameter, as identified by cone-beam tomography. The bone window technique performed offers the advantage of repositioning the bone segment displaced during surgery, promoting the repair process, and providing direct access to the area containing the cystic lesion and the impacted tooth.

Abstract Participation in external quality assessment programmes focused on rare genetic diseases makes it possible to assess the laboratory technical and analytical performance and it is a prerequisite for accreditation according to ISO 15189. The objective of this study was to perform a retrospective evaluation of our performance in the EMQN (European Molecular Genetics Quality Network) and the CF Network (Cystic Fibrosis European Network) programmes in the 2014-2022 period. The laboratory performance on genotyping, interpretation and clerical accuracy and patient identifiers in a total of 88 schemes were assessed. The information of our scores and the mean scores of all participating laboratories in the three categories were collected. A total of 90.9% of the schemes were fully completed. The performance in genotyping showed scores above the mean scores in 89.3% of the schemes; 0.8% of the reports correspond to false negative results. Regarding interpretation category, 66.7% of the schemes presented scores above the mean scores and 33.3% below the mean scores. The clerical accuracy and patient identifiers were above the mean scores in 97.6% of the schemes. A statistically significant difference in the percentage of schemes with a score above the mean for the interpretation category in the year 2022 (10/12 schemes) was observed compared to the year 2014 (1/6 schemes) (p=0.0128). In conclusion, regular participation in external quality assessment programmes had a positive impact on the quality of the studies and allows for continuous improvements based on the recommendations suggested by these programmes.

Resumen La participación en programas de evaluación externa de la calidad (PEEC) dirigidos al diagnóstico de enfermedades genéticas permite obtener una medida objetiva del desempeño técnico y analítico de los laboratorios y es un requisito para la acreditación de los laboratorios clínicos bajo la norma ISO 15189. El objetivo de este estudio fue evaluar retrospectivamente el desempeño en los esquemas EMQN (European Molecular Genetics Quality Network) y CF Network (Cystic Fibrosis European Network) en el período 2014-2022. Se participó en un total de 88 esquemas. Se recolectó la información de nuestros puntajes y las medias de los laboratorios participantes en las categorías genotipificación, interpretación y exactitud de la información del paciente/informe. Se informó en forma completa el 90,9% (n=80) de los esquemas. El desempeño en genotipificación mostró puntajes superiores a la media en el 89,3% de los esquemas; 0,8% de los informes correspondieron a falsos negativos. En interpretación, el 66,7% de los esquemas evidenció un desempeño superior a la media y el 33,3% debajo de la media. La exactitud de la información del paciente/informe presentó puntajes superiores a la media en el 97,6% de los esquemas. Se observó una diferencia estadísticamente significativa en el porcentaje de esquemas con puntaje por encima de la media en el año 2022 (10/12 esquemas) respecto al año 2014 (1/6 esquemas) en la categoría interpretación (p=0,0128). En conclusión, la participación regular en PEEC tuvo impacto positivo en la calidad de los estudios y permite realizar mejoras continuas a partir de las recomendaciones sugeridas por estos programas.

Resumo A participação em programas de avaliação externa da qualidade (PEECs) voltados para o diagnóstico de doenças genéticas permite obter uma mensuração objetiva do desempenho técnico e analítico dos laboratórios e é requisito para a acreditação dos laboratórios clínicos sob a norma ISO 15189. O objetivo desse estudo foi avaliar retrospectivamente o desempenho nos esquemas EMQN (European Molecular Genetics Quality Network) e CF Network (Cystic Fibrosis European Network) no período 2014-2022. Participou-se em um total de 88 esquemas. Foram coletadas informações de nossos escores e das médias dos laboratórios participantes nas categorias genotipagem, interpretação e precisão da informação do paciente/laudo. 90,9% (n=80) dos esquemas foram informados em sua totalidade. O desempenho na genotipagem apresentou escores acima da média em 89,3% dos esquemas; 0,8% dos laudos corresponderam a falsos negativos. Na interpretação, 66,7% dos esquemas apresentaram desempenho acima da média e 33,3% abaixo da média. A precisão das informações do paciente/laudo apresentou escores acima da média em 97,6% dos esquemas. Observou-se diferença estatisticamente significativa no percentual de esquemas com pontuação acima da média no ano de 2022 (10/12 esquemas) em relação ao ano de 2014 (1/6 esquemas) na categoria interpretação (p=0,0128). Em conclusão, a participação regular em PEECs teve um impacto positivo na qualidade dos estudos e permite fazer melhorias contínuas com base nas recomendações sugeridas por esses programas.