Clinical practice guidelines for the treatment of Ewing sarcoma (Spanish Sarcoma Research Group-GEIS).

Ewing sarcoma is a small round-cell sarcoma characterized by gene fusion involving EWSR1 (or another TET family protein like FUS) and an ETS family transcription factor. The estimated incidence of this rare bone tumor, which occurs most frequently in adolescents and young adults, is 0.3 per 100,000/year. Although only 25% of patients with Ewing sarcoma are diagnosed with metastatic disease, historical series show that this is a systemic disease. Patient management requires multimodal therapies-including intensive chemotherapy-in addition to local treatments (surgery and/or radiotherapy). In the recurrent/refractory disease setting, different approaches involving systemic treatments and local therapies are also recommended as well as patient inclusion in clinical trials whenever possible. Because of the complexity of Ewing sarcoma diagnosis and treatment, it should be carried out in specialized centers and treatment plans should be designed upfront by a multidisciplinary tumor board. These guidelines provide recommendations for diagnosis, staging, and multimodal treatment of Ewing sarcoma.

Tumores del estroma gastrointestinal: breve actualización y consenso de la SEAP-SEOM sobre diagnóstico patológico y molecular / A brief up-date and consensus about the pathological and molecular diagnosis of gastrointestinal stromal tumours from the SEAP-SEOM

Los tumores del estroma gastrointestinal (GIST) son las neoplasias mesenquimales más frecuentes del tubo digestivo con una incidencia de 1,1 casos/100.000 habitantes/año. Un grupo de expertos de la Sociedad Española de Anatomía Patológica y la Sociedad Española de Oncología se reunieron para realizar una breve actualización de los GIST y consensuar los aspectos relacionados con su diagnóstico patológico y molecular. Los GIST generalmente son lesiones solitarias, bien circunscritas, de dimensiones variables (< 10 mm-35cm), que pueden presentar crecimiento parietal intra o extraluminal o mixto (en reloj de arena). Histológicamente, son neoplasias no encapsuladas, con crecimiento expansivo y celularidad fusiforme (70%), epitelioide (20%) o mixta (10%). La actividad mitótica generalmente es moderada o baja y debe evaluarse exclusivamente en los territorios con mayor celularidad o con mayor número de mitosis. La gran mayoría de los GIST presentan mutaciones activadoras, mutuamente excluyentes, en los genes que codifican para los receptores tirosina quinasa de tipo iii KIT y PDGFRA; con mucha menor frecuencia también se han descrito mutaciones en otros genes, tales como BRAF, NF1, y genes del complejo SDH. El método de detección de mutaciones de KIT y PDGFRA más ampliamente utilizado es la amplificación mediante reacción en cadena de la polimerasa de los exones de interés y la secuenciación directa (método Sanger) de estos productos de amplificación. Los informes moleculares siempre deben especificar el tipo de análisis llevado a cabo y la región o mutaciones que se han evaluado, así como indicar la sensibilidad del método de detección empleado (AU)

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the digestive tract, with an incidence of 1.1 cases/100,000 inhabitants/year. A group of experts from the Spanish Societies of Pathology and Oncology met to discuss a brief update on GISTs and agree on aspects relating to the pathological and molecular diagnosis of these tumors. GISTs are generally solitary, well-circumscribed lesions of variable size (<10 mm-35cm) that may present with intra- or extra-luminal parietal growth or a mixed-type (hourglass) growth pattern. Histologically, they are unencapsulated neoplasms displaying expansive growth and spindle-shaped (70%), epithelioid (20%) or mixed cellularity (10%). Mitotic activity is generally moderate or low and should be evaluated only in areas with high cellularity or higher mitotic frequency. The great majority of GISTs harbour mutually-exclusive activating mutations in genes coding for the type iii receptor tyrosine kinases KIT and PDGFRA; less commonly, GISTs have also been reported to display mutations elsewhere, including BRAF and NF1 and SDH-complex genes. The method most widely used to detect KIT and PDGFRA mutations is amplification of the exons involved by polymerase chain reaction followed by direct sequencing (Sanger method) of these amplification products. Molecular analyses should always specify the type of analysis performed, the region or mutations evaluated and the sensitivity of the detection method employed (AU)

[Renal oncocytomatosis in a patient receiving hemodialysis]. / Oncocitosis renal de paciente en hemodialisis.

OBJECTIVE: Renal oncocytosis is a rare pathology. We report the first case published of a patient with this disease undergoing combined pancreas-kidney transplantation. METHODS: We report the case of one patient with end stage chronic renal failure receiving hemodialysis with the incidental diagnosis of two renal oncocytomas and microscopic oncocytomatosis in a routine revision while awaiting for renal transplantation. Right radical nephrectomy was performed with the pathologic diagnosis of renal oncocytomas. The patient underwent combined kidney-pancreas transplantation nine months later. RESULTS: The postoperative course was uneventful. After three years of follow-up the patient has not shown recurrence and the graft has normal function. CONCLUSIONS: The presence of the antecedent of end stage renal disease under treatment with hemodialysis in patients with renal oncocytomatosis is striking, but the causative relationship is not established. The treatment for renal oncocytosis and pathologic characteristics present will condition when will be possible the performance of a kidney transplant in these patients, and will also condition prognosis. Longterm follow-up is recommendable due to the possibility of metachronic or bilateral involvement, and the association between renal oncocytomatosis and renal cell carcinoma in up to 32% of the cases.

Oncocitosis renal de paciente en hemodialisis / Renal oncocytomatosis in a patient receiving hemodialysis

OBJETIVO: La oncocitosis renal es una patología infrecuente. Presentamos el primer caso publicado de paciente diagnosticado de esta patología y sometido posteriormente a trasplante combinado riñón-páncreas. MÉTODOS: Presentamos el caso de un paciente en el que, en una revisión rutinaria por Insuficiencia Renal Crónica Terminal (IRCT) y tratamiento con hemodiálisis, en espera de trasplante renal, se diagnostican de forma incidental dos oncocitomas renales y focos de oncocitomatosis microscópica. Se realiza nefrectomía radical derecha y tras el estudio anatomo-patológico, con masas dominantes caracterizadas como oncocitomas renales (OR), se sometió a trasplante combinado reno-pancreático nueve meses después. RESULTADOS: El postoperatorio cursa sin incidencias. Tras un seguimiento de tres años el paciente no ha mostrado recidiva de su patología oncocítica, y el injerto es normofuncionante. CONCLUSIONES: La presencia del antecedente de IRCT en tratamiento con hemodiálisis en los pacientes con oncocitomatosis renal es llamativa, no quedando establecida la causa de esta relación. El tratamiento al que se someta el paciente para la oncocitosis renal y las características anatomopatológicas presentes en el espectro de esta patología condicionarán cuando es posible la realización de un trasplante renal en este tipo de enfermos, y condicionará el pronóstico. Es aconsejable el seguimiento de los pacientes a largo plazo, dada la posibilidad de afectación metacrónica o bilateral, y la asociación entre oncocitomatosis renal (OCR) y carcinoma de células renales (CCR) hasta en un 32%

OBJECTIVE: Renal oncocytosis is a rare pathology. We report the first case published of a patient with this disease undergoing combined pancreas-kidney transplantation. METHODS: We report the case of one patient with end stage chronic renal failure receiving hemodialysis with the incidental diagnosis of two renal oncocytomas and microscopic oncocytomatosis in a routine revision while awaiting for renal transplantation. Right radical nephrectomy was performed with the pathologic diagnosis of renal oncocytomas. The patient underwent combined kidney-pancreas transplantation nine months later. RESULTS: The postoperative course was uneventful. After three years of follow-up the patient has not shown recurrence and the graft has normal function. CONCLUSIONS: The presence of the antecedent of end stage renal disease under treatment with hemodialysis in patients with renal oncocytomatosis is striking, but the causative relationship is not established. The treatment for renal oncocytosis and pathologic characteristics present will condition when will be possible the performance of a kidney transplant in these patients, and will also condition prognosis. Long-term follow-up is recommendable due to the possibility of metachronic or bilateral involvement, and the association between renal oncocytomatosis and renal cell carcinoma in up to 32% of the cases

[Metastatic Crohn's disease involving the penile foreskin]. / Afectación prepucial de la enfermedad de Crohn metastásica.

OBJECTIVE: To describe the case of the patient with history of Crohn's disease presenting metastatic extension to the penile foreskin. METHODS: Circumcision was carried out and the skin was sent to the pathology department. RESULTS: Pathologic study of the specimen showed an ulcerated granuloma without caseum, typically associated with metastatic Crohn's disease. After one year of follow-up there is no evidence of recurrence. CONCLUSIONS: Crohn's disease is a disease of unknown origin, the main characteristic of which is the development of non necrotizing granulomas that may involved not only the gastrointestinal tract. When the extraintestinal involvement is not produced by continuity we call it metastatic disease. Such metastases may be found in the genitourinary tract, and other sites. This involvement may include lithiasis, amyloidosis, ... and the presence of lesions in the genital skin, as in our case.

Afectación prepucial de la enfermedad de Crohn metastásica / Metastatic Crohn´s disease involving the penile foreskin

OBJETIVO: Describimos el caso de un paciente con antecedentes de enfermedad de Crohn que presenta extensión metastásica de su enfermedad en la piel prepucial. MÉTODOS: Se decide circuncisión del paciente y se envía la piel prepucial al servicio de anatomía patológica de nuestro hospital. RESULTADOS: En el análisis histológico de la pieza aparece granuloma no caseificante con ulceración, propio de la enfermedad de Crohn metastásica. Tras un año de seguimiento no se aprecia recidiva. CONCLUSIONES: La enfermedad de Crohn (EC) es una entidad de origen desconocido cuya característica principal es la formación de granulomas no necrotizantes que pueden afectar no sólo al tracto gastrointestinal. Cuando esta afectación extradigestiva no se produce por continuidad nos encontramos frente a la enfermedad de Crohn metastásica. Estas metástasis, pueden encontrarse, entre otras localizaciones, en el aparato genitourinario. Esta afectación incluye litiasis, amiloidosis, … y la aparición de lesiones en la piel genital, como en nuestro caso

OBJECTIVE: To describe the case of the patient with history of Crohn’s disease presenting metastatic extension to the penile foreskin. METHODS: Circumcision was carried out and the skin was sent to the pathology department. RESULTS: Pathologic study of the specimen showed an ulcerated granuloma without caseum, typically associated with metastatic Crohn’s disease. After one year of follow-up there is no evidence of recurrence. CONCLUSIONS: Crohn’s disease is a disease of unknown origin, the main characteristic of which is the development of non necrotizing granulomas that may involved not only the gastrointestinal tract. When the extraintestinal involvement is not produced by continuity we call it metastatic disease. Such metastases may be found in the genitourinary tract, and other sites. This involvement may include lithiasis, amyloidosis,... and the presence of lesions in the genital skin, as in our case