ABSTRACT
Paciente varón de 64 años con antecedente de enfermedad de Crohn que en el contexto de un episodio de dolor abdominal agudo es ingresado en el hospital, siendo diagnosticado, tras el estudio histológico de una biopsia cutánea y otra pulmonar, de una histiocitosis combinada encuadrada dentro de las histiocitosis del grupo L (Langerhans). En la biopsia cutánea se evidenció proliferación de células histiocitarias con positividad inmunohistoquímica para Langerina, CD1a, S100, resultando el estudio molecular de la misma positivo para la mutación BRAF p.V600E. En la biopsia pulmonar se evidenció una proliferación de células histiocitarias con positividad inmunohistoquímica para CD68 y para S100 y negatividad para Langerina y CD1a, detectándose en la misma mutaciones en NRAS c.38G>A en el exón 2 (p.G13D).(AU)
We present a case of a 64-year-old male with a history of Crohn's disease who presented with an episode of acute abdominal pain. He was being investigated for a dermatological lesion. A skin and lung biopsy both revealed histiocytosis of the L (Langerhans) group. The skin biopsy showed a proliferation of histiocytic cells expressing Langerin, CD1a and S100 and the molecular study was positive for the BRAF p.V600E mutation. In the lung biopsy, a proliferation of histiocytic cells was found, which were positive for CD68 and S100 and negative for Langerin and CD1a; mutations in NRAS c.38G>A in exon 2 (p.G13D) were also detected.(AU)
Subject(s)
Humans , Male , Aged , Histiocytosis, Langerhans-Cell , Erdheim-Chester Disease , Crohn Disease , Abdominal Pain , Langerhans Cells , Inpatients , Physical Examination , PathologyABSTRACT
We present a case of a 64-year-old male with a history of Crohn's disease who presented with an episode of acute abdominal pain. He was being investigated for a dermatological lesion. A skin and lung biopsy both revealed histiocytosis of the "L" (Langerhans) group. The skin biopsy showed a proliferation of histiocytic cells expressing Langerin, CD1a and S100 and the molecular study was positive for the BRAF p.V600E mutation. In the lung biopsy, a proliferation of histiocytic cells was found, which were positive for CD68 and S100 and negative for Langerin and CD1a; mutations in NRAS c.38G>A in exon 2 (p.G13D) were also detected.
Subject(s)
Erdheim-Chester Disease , Histiocytosis, Langerhans-Cell , Male , Humans , Middle Aged , Erdheim-Chester Disease/complications , Erdheim-Chester Disease/genetics , Erdheim-Chester Disease/pathology , Proto-Oncogene Proteins B-raf/genetics , Histiocytosis, Langerhans-Cell/complications , Histiocytosis, Langerhans-Cell/genetics , Histiocytosis, Langerhans-Cell/pathology , Mutation , Histiocytes/pathology , Membrane Proteins/genetics , GTP Phosphohydrolases/geneticsABSTRACT
Introduction: Infantile fibrosarcoma is a rare non-rhabdomyosarcomatous soft tissue tumor (0.0005%) of which only 10% occur in the abdomen where they rarely affect the gastrointestinal tract. The median age at diagnosis is 3 months although 40% of them are present at birth. Material and methods: When infantile fibrosarcoma is diagnosed in our center, a clinicalpathological description is made together with a bibliographic review. Results: We present the case of a 6-day-old girl who presented with irritability and rejection of food. She was diagnosed with acute abdomen due to perforation and underwent surgery where a mass on the ascending colon was removed. Histopathology revealed a proliferation of spindle cells consisting of intertwined fascicles, infiltrating the adjacent tissues. Nuclear pleomorphism, few mitoses, foci of necrosis and hemorrhage are seen. Immunohistochemistry showed positivity for Pan-TRK and the NGS panel (Archer DX) demonstrated the TPR::NTRK1 fusion. No case with these characteristics, location or TPR::NTRK1 fusion were found in the literature. Conclusions: Infantile fibrosarcoma is a very infrequent tumor which is exceptionally rare in the intestine. It is important to look for the characteristic genetic rearrangement of these tumors both to confirm the diagnosis and differentiate them from other pediatric spindle cell tumors and determine the correct targeted treatment. Selective TRK inhibitors have shown a 75% response rate in children and adults with tumors that exhibit TRK fusion. It was possible to find fusions with the Archer DX panel that the Oncomine panel did not detect.(AU)
Introducción: El fibrosarcoma infantil es un tumor infrecuente del tejido blando no rabdomiosarcomatoso (0,0005%). Solo el 10% se produce en el abdomen y pocos de ellos afectan al tracto gastrointestinal. La edad media de su diagnóstico es de 3 meses, presentándose el 40% de ellos al nacer. Material y métodos: Con motivo del diagnóstico de un caso de fibrosarcoma infantil en nuestro centro realizamos una descripción clínico-patológica del mismo, y llevamos a cabo una revisión de la literatura al respecto. Resultados: Presentamos el caso de una niña de 6 días de edad, que inició con irritabilidad y rechazo de alimentos, a quien se diagnosticó abdomen agudo debido a perforación. En la intervención quirúrgica se extirpó una masa dependiente en el colon ascendente. El estudio histológico mostró una proliferación de células fusiformes compuesta de fascículos entrelazados, con infiltración en los tejidos adyacentes. Se identificaron pleomorfismo nuclear, pocas mitosis, focos de necrosis y hemorragia. Se obtuvo positividad inmunohistoquímica para Pan-TRK, demostrando el panel de NGS (Archer DX) la fusión TPR::NTRK1. No encontramos en la literatura ningún caso con estas características, localización intestinal y fusión TPR::NTRK1. Conclusiones: El fibrosarcoma infantil es un tumor muy raro, siendo excepcional la localización intestinal. Es importante la búsqueda de la reorganización genética característica de estos tumores, tanto para esclarecer el diagnóstico como para diferenciarlos de otros tumores de células fusiformes de aparición en niños, así como para aportar un tratamiento focalizado. Los inhibidores selectivos de TRK han reflejado una tasa de respuesta del 75% en niños y adultos con tumores que exhiben fusión de TRK. Fue posible encontrar fusiones utilizando el panel Archer DX, no detectadas por el panel Oncomine.(AU)
Subject(s)
Humans , Female , Child , Inpatients , Physical Examination , Fibrosarcoma , Surgical Procedures, Operative , Neoplasms , Pediatrics , Epidemiology, DescriptiveABSTRACT
INTRODUCTION: Mammary analogue secretory carcinoma (MASC) is a recent discovered entity of salivary glands tumors, reported for first time in 2010. The presence of a translocation encodes the ETS variant transcription factor 6-neurotrophic tyrosine receptor kinase (ETV6-NTRK3) gene fusion differences MASC from other tumors. CASE PRESENTATION: A 68-year-old male showed a non-painful right parotid enlargement, came from dermatology service, and followed by some facial squamous cell carcinomas. A computed tomography (CT) scan showed a 1.7×1.6 cm right parotid enlargement in superficial lobe. The patient underwent a right superficial parotidectomy. The final pathology confirmed the presence of ETV6-NTRK3-positive MASC. Complete right deep parotidectomy and functional cervical emptying were performed. DISCUSSIONS AND CONCLUSIONS: It is necessary to establish an appropriated differential diagnosis between salivary gland tumors. MASC is a low-grade malignancy cancer that sometimes can evolve to a high-grade tumor that might produce local and distance dissemination. Most times, these tumors are only treated by surgical resection and evaluating by a multidisciplinary team the need of more treatments. In our case, the patient showed a primary parotid tumor, removed surgically with free edges, and being identified as MASC. We decided to underwent neck dissection and discovered a second MASC focus on cervical salivary gland; however, there was no nodal dissemination. The patient remains disease-free after 14 months from last surgery. It is important to keep studying genetic therapy targets to ETV6-NTRK3 to obtain a new therapy line to treat those cases that require.
Subject(s)
Mammary Analogue Secretory Carcinoma , Salivary Gland Neoplasms , Aged , Biomarkers, Tumor , Humans , Male , Mammary Analogue Secretory Carcinoma/genetics , Oncogene Proteins, Fusion/genetics , Salivary Gland Neoplasms/genetics , Translocation, GeneticABSTRACT
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