¿Cuándo el patólogo debe solicitar inmunomarcación con B-Catenina?: una revisión de la literatura a propósito de dos casos / When should the pathologist request immunostaining with B-catenin?: a review of the literature on two cases

For more than 20 years, immunohistochemistry has represented an auxiliary test of great relevance to support pathological work, however, it should be noted that the pillar of diagnosis continues and will continue to be the classic morphological description based on hematoxylin eosin and the trained eye of the specialist. In neoplastic pathologies, whether benign or malignant, it is becoming increasingly necessary to incorporate new tissue biomarkers that help objectify or confirm the diagnosis of each patient, in order to provide better treatment or a more precise diagnosis about the biological nature of their illness. In this line, there has been intense research in relation to the participation of the Wnt/ß-catenin pathway in the development of various types of tumors, including colon adenocarcinoma, some pancreatic neoplasms and even some tumors of mesenchymal origin, as will be seen. in this work. In this context and based on two clinical cases of special interest, we have prepared a brief review of the literature considering the biological aspects of ß-catenin, tumors where there is currently a true relative consensus that its immunolabeling offers a real contribution to the confirmation of the entity and finally a limited exposition regarding the future of this biomarker in the pathology discipline.

Desde hace más de 20 años la inmunohistoquímica ha representado una prueba auxiliar de gran relevancia para apoyar el trabajo anatomopatológico, no obstante, cabe señalar que, aún el pilar del diagnóstico sigue y seguirá siendo la descripción morfológica clásica basada en hematoxilina eosina y el ojo entrenado del especialista. En las patologías neoplásicas, ya sea benignas, como malignas, se hace cada vez más necesario la incorporación de nuevos biomarcadores tisulares que ayuden a objetivar o confirmar el diagnóstico de cada paciente, con objeto de entregar un mejor tratamiento o un diagnóstico más preciso de la naturaleza biológica de su enfermedad. En esta línea, ha habido intensa investigación en relación con la participación de la vía Wnt/ß-catenina en el desarrollo de varios tipos de cáncer, entre ellos el adenocarcinoma de colon, algunas neoplasias pancreáticas e incluso algunos tumores de origen mesenquimal como se verá en este trabajo. En este contexto y partir de dos casos clínicos de especial interés, hemos preparado una breve revisión de la literatura considerando los aspectos biológicos de la ß-catenina, los tumores donde en la actualidad existe verdadero consenso de que su inmunomarcación ofrece un aporte real a la confirmación de la entidad y finalmente una exposición acotada respecto al futuro de este biomarcador en la disciplina de la anatomía patológica.

Dermatomicosis superficiales: cuando el diagnóstico lo entrega la histología / Superficial dermatomycosis: when the diagnosis is provided by histology

Superficial dermatomycosis are prevalent pathologies in the medical field and their diagnosis is fundamentally clinical. Histopathology is not considered part of his study, however, the diagnosis is exceptionally obtained by biopsy, when dermatomycosis was not suspected. Unpublished retrospective work is carried out on patients who had the histopathological diagnosis of superficial dermatomycosis between the years 2000-2019 at the HCUCH, based on selection criteria, obtaining 19 patients, in which the following were analyzed: age, gender, clinical characteristics, location, presumptive diagnosis and mycological and histological examinations. He stressed, as was our hypothesis, that dermatomycosis was not clinically suspected, since the presumptive diagnoses were various dermatoses. The most suspected dermatosis was psoriasis, as a result that 57.8% of the dermatoses studied had erythematous scaly plaques on examination. Another relevant fact is that only 21% of the cases underwent a direct mycological prior to the biopsy, which was negative ('' false negative''). It is concluded, then, that superficial dermatomycosis should be considered clinical simulators of other dermatoses, so clinical suspicion and support of mycological examination and fungal culture is essential. (AU)

Paratirotoxicosis y tumor cervical palpable: caso clínico de cáncer de paratiroides / Parathyrotoxicosis and palpable neck mass: a clinical presentation of parathyroid cancer

Introducción: El cáncer de paratiroides es poco frecuente. Suele presentarse como hiperparatiroidismo primario, en ocasiones como crisis hipercalcémica, con malestar general, náuseas, vómitos, alteraciones del ánimo y pérdida de peso. En algunos casos se presenta como osteítis fibrosa quística, osteopenia difusa, osteoporosis y fracturas patológicas. El diagnóstico suele estar dado por biopsia quirúrgica que muestra invasión a estructuras adyacentes, o metástasis locales y distantes. El tratamiento es la resección quirúrgica del tumor, sin uso de terapias adyuvantes. Su tasa de recurrencia es alta, de 25 a 100%. Algunos factores de mal pronóstico son metástasis a linfonodos en la presentación inicial, metástasis distantes y carcinomas no funcionantes. Caso clínico: Paciente masculino de 64 años que consultó por compromiso del estado general, bradipsiquia, poliuria, cefalea y masa cervical. Además presentaba hipercalcemia y gran elevación de PTH. Se realizó resección quirúrgica de la masa cervical, con biopsia rápida con atipias y mitosis 1/10, y de un nódulo hiperplásico tiroideo. Tras esto, sus niveles de PTH disminuyeron, así como también descendieron sus niveles de calcio. Discusión: Los pacientes que presentan cáncer de paratiroides suelen tener valores más elevados de calcemia y PTH. Para su diagnóstico, no se recomienda usar biopsia por punción, por riesgo de diseminación y por el bajo rendimiento de esta técnica. Conclusión: Pese a ser poco frecuente, se debe pensar en cáncer de paratiroides en el contexto de un paciente con hipercalcemia, especialmente si presenta PTH muy elevada. La sospecha clínica de este diagnóstico tiene directa relación con la posibilidad de tratamiento y pronóstico de la enfermedad.

Introduction: Parathyroid cancer is rare. Usually presented as primary hyperparathyroidism, sometimes as hypercalcemic crisis, with general malaise, nausea, vomiting, mood disturbances and low weight. In some cases it occurs as osteitis fibrosa cystica, diffuse osteopenia, osteoporosis and pathological fractures. The diagnosis is usually made by surgical biopsy shows invasion of adjacent structures, or local and distant metastases. The treatment is surgical resection of the tumor, without the use of adjuvant therapies. Their recurrence rate is high, 25 to 100%. Poor prognostic factors are lymph node metastases at initial presentation, distant metastases and nonfunctional carcinomas. Case report: Male patient consulted for 64 years in general conditions, bradypsychia, polyuria, headache and neck mass. He also had hypercalcemia and high elevation of PTH. Surgical resection of the cervical mass was performed, with rapid biopsy atypia and mitosis 1/10, and hyperplastic thyroid nodule. After this, PTH decreased levels as well as levels of calcium. Discussion: Patients with parathyroid cancer tend to have higher serum calcium and PTH of values. For diagnosis, it is not recommended to use needle biopsy, risk of spread and the poor performance of this technique. Conclusion: Despite being rare, you should think parathyroid cancer in the context of a patient with hypercalcemia, especially if you have very high PTH. The clinical suspicion of this diagnosis is directly related to the possibility of treatment and prognosis of the disease.

Sarcoidosis subcutánea sin compromiso sistématico / Subcutaneous sarcoidosis without compromise systemic

We present the case of a 52 year old woman with a history of bilateral ovarian cancer operated. The patient attended the dermatology unit for a sudden onset of a left plantar nodule of three weeks of evolution, painful on walking, with no other history in particular. At physical examination, the patient presented a surface nodule slightly hyperpigmented, with ill-defined edges, round shape, firm consistency, mobile and painful to compression, one cm of diameter, in the middle third of the left plant. No concomitant scars are seen. Doppler soft tissue ultrasound is requested, showing a granulomatous nodule on the surface of the plantar aponeurosis. The biopsy lesion revealed non-caseating granulomas in cell tissue, PAS and Ziehl-Neelsen staining are negative A left plantar subcutaneous sarcoidosis is diagnosed, systemic involvement is ruled out. Within the first year of follow-up, there are no new lesions or findings compatible with systemic disease. (AU)

Asociación entre polimorfismos en los genes PNPLA3 y TM6SF2 y presencia de fibrosis en pacientes con infección crónica por virus hepatitis C / The association between polymorphisms in the genes PNPLA3 and TM6SF2 and the presence of fibrosis in patients with chronic hepatitis C virus infection

Hepatitis C virus (HCV) is a globally prevalent pathogen and a leading cause of death and morbidity. The most recent estimates of disease burden show an increase in seroprevalence over the last 15 years to 2.8 percent, equating to >185 million infections worldwide. Persistent hepatitis C infection is associated with the development of liver cirrhosis, hepatocellular cancer, liver failure and death. The magnitude of disease progression in chronic infection varies significantly among individuals. Several factors have been recognized as being associated with the progression of HCV-related liver fibrosis and with clinical outcomes. As liver fibrosis progression remains variable between individuals with similar environmental or virological risks, host genetic predispositions have been suggested as another critical determinant. The single nucleotide polymorphisms in Patatin-like phospholipase domain-containing 3 (PNPLA3) and Transmembrane 6 Superfamily Member 2 (TM6SF2) genes are genetic determinants of nonalcoholic fatty liver disease, in terms of inflammation and fibrosis. The possible action of the PNPLA3 and TM6SF2 polymorphisms on fibrosis development in chronic hepatis C is being studied, with controversial results.

Oclusión temporal de arterias ilíacas internas en cesárea-histerectomía por placenta acreta: enfoque multidisciplinario / Temporary occlusion of internal iliac arteries in cesarean section-hysterectomy for placenta accreta: a multidisciplinary approach

OBJETIVO: Evaluar la eficacia y resultados del tratamiento de la placenta acreta previa central en un caso clínico. Durante el embarazo los métodos diagnósticos por imágenes (ultrasonido y resonancia nuclear magnética) precisaron la localización y penetración de la placenta en la pared uterina. En el período inmediato antes del parto, para disminuir la hemorragia, evitar la hipotensión materna y facilitar el procedimiento quirúrgico, se colocaron balones intraarteriales en ambas ilíacas internas por radiólogo intervencionista, catéteres para monitoreo hemodinámico invasivo por anestesiólogo y catéteres ureterales por urólogo. La resolución del parto fue por cesárea-histerectomía sin remoción de la placenta. El caso correspondió a una paciente de 32 años con cesárea en dos partos anteriores, metrorragia episódica y que fue interrumpida en la semana 36. Durante toda la intervención permaneció hemodinámicamente estable requiriendo 1 unidad de glóbulos rojos, 4 litros entre coloides y cristaloides y el posoperatorio fue sin incidentes. El examen histo-patológico demostró percretismo de la pared uterina sin invasión vesical, concordante con las imágenes de lagunas vasculares y la citoscopia. CONCLUSIÓN: El caso demuestra el beneficio del tratamiento especializado multidisciplinario de embarazos con complicaciones graves como la placenta previa con diferentes grados de acretismo.

OBJECTIVE: To report the treatment of a clinical case with central placenta previa accreta. During pregnancy image diagnosis (ultrasound and magnetic resonance imaging) revealed localization and penetration of the placenta into the uterine wall. Just before delivery to reduce the bloss loss and avoid maternal hypotension and facilitate surgery, intra arterial balloons were placed on both hypogastric arteries by the radiologist; intravascular monitoring was installed by anesthesist and urologist put in ureteral catheters. The delivery was by cesarean section and followed by histerectomy leaving the placenta in situ. The case correspond to a woman of 32 years old that had 2 previous cesarean section. During this pregnancy bled a few times and was delivered at weeks 36th. During surgery she was stable, requiring one unit of red blood cells and four liters of coloids and crystaloids. Post-operative course was with no problems. The pathologist report a placenta percreta with no bladder involvement, agreeing with the vascular lakes image and the cystoscopy. CONCLUSION: This case reveals the benefits of multidisciplinary approach to manage severe complications of pregnancy such as placenta previa and the degree of accretism.

Laringocele como diagnóstico diferencial de quiste tiroideo / Laryngocele as a differential diagnosis of a thyroid cyst

A cervical mass is a usual complaint within the clinical practice. Among possible causes, thyroid cysts and nodules are frequent findings. However, there are differential diagnoses that arise from neighboring structures, which can be difficult to assess. We report an 18 years old male presenting with a cervical mass, clinically and ecographically suggestive of a right thyroid cyst. Fine needle aspiration was negative for neoplastic cells. Within surgery a paratracheal lesion was identified and resected. The histological findings were compatible with a laryngocele. A laryngocele is an abnormal dilatation of the laryngeal sacule that can simulate a thyroid cyst. Computarized tomography and magnetic resonance are of great importance in its diagnosis, but sometimes is found within surgery or in the anatomopathologic study.

Las masas cervicales son un motivo de consulta usual dentro de la práctica clínica. Dentro de estas, los nódulos y quistes de origen tiroideo son hallazgos frecuentes. Aún así, existen diagnósticos diferenciales originados de estructuras vecinas a la glándula tiroides, cuyo diagnóstico inicial es difícil. Presentamos el caso de un varón de 18 años con una masa cervical derecha, clínica y ecográficamente sugerente de un quiste tiroideo. La punción-aspiración con aguja fina fue negativa para células neoplásicas. En el intraoperatorio se identificó una lesión paratraqueal derecha que fue resecada. El diagnóstico histológico fue compatible con un laringocele. El laringocele es una dilatación anormal del sáculo laríngeo que puede simular un quiste tiroideo. La tomografía computarizada y la resonancia magnética son de gran utilidad en su diagnóstico, pero en ocasiones éste se realiza en el intraoperatorio o mediante el estudio anatomopatológico.

Síndrome de Muir-Torre: a propósito de dos casos / Muir-Torre syndrome: speaking of two cases

El síndrome de Muir-Torre (SMT) es una entidad que agrupa a lo menos una neoplasia sebácea y una neoplasia visceral. Es un trastorno genético que involucra un fallo en la transcripción de proteínas de reparación de ADN. Es poco frecuente y habitualmente el diagnóstico requiere una búsqueda exhaustiva de las neoplasias asociadas. El tratamiento de las lesiones cutáneas es la extirpación completa de la lesión, pero requiere un control continuo para detectar a tiempo recurrencias, nuevas neoplasias y posibles metástasis. Se presenta el reporte de dos casos, que presentan todas las características clínicas del SMT, junto con una revisión bibliográfica sobre el tema.

Muir-Torre syndrome (MTS is an entity comprising sebaceous neoplasm and visceral malignancy. It is a genetic disorder that involves a failure in the transcription of DNA repair proteins. It is a uncommon disease and usually the diagnosis requires an exhaustive search of associated neoplasm. The treatment of skin neoplasm is the complete removal of the lesion, but it requires continuous monitoring to detect early recurrence, new neoplasias and possible metastasis. We report two cases, which illustrate all the clinical characteristics of MTS, together with a literature review on the subject.