Tumor neuroendocrino asociado con quiste intestinal: presentación de un caso / Neuroendocrine tumor associated with an intestinal cyst: a case report

Los quistes intestinales (tailgut cyst), o hamartomas quísticos retrorrectales, son lesiones benignas raras que se incluyen en la categoría de lesiones quísticas del desarrollo. Aunque existen varias hipótesis con respecto a su desarrollo, actualmente sigue sin conocerse con certeza su origen. Se localizan principalmente en el espacio presacro (retrorrectal) y afectan fundamentalmente a mujeres de edad media (40-60 años).Teniendo en cuenta su localización y características histológicas, los principales diagnósticos diferenciales incluyen quistes epidermoides, quistes de duplicación y teratomas.La transformación maligna de estas lesiones es rara, la mayoría en forma de adenocarcinoma y tumores neuroendocrinos.Nosotros presentamos un caso de un quiste intestinal asociado a tumor neuroendocrino bien diferenciado (G1) en una mujer de 63 años.(AU)

ntestinal (tailgut) cysts or retrorectal cystic hamartomas are rare benign lesions that are included in the category of developmental cystic lesions. Their origin is still uncertain, although several hypotheses have been proposed to explain their development. They are located mainly in the presacral (retrorectal) space and predominately affect middle-aged women (40-60 years).Taking into account location and histological characteristics, the main differential diagnoses include epidermoid cysts, duplication cysts and teratomas.Malignant transformation of these lesions is rare and preferentially into adenocarcinoma and neuroendocrine tumors.We present a case of an intestinal cyst associated with a well-differentiated neuroendocrine tumor (G1) in a 63-year-old woman.(AU)

[Neuroendocrine tumor associated with an intestinal cyst: a case report]. / Tumor neuroendocrino asociado con quiste intestinal: presentación de un caso.

Intestinal (tailgut) cysts or retrorectal cystic hamartomas are rare benign lesions that are included in the category of developmental cystic lesions. Their origin is still uncertain, although several hypotheses have been proposed to explain their development. They are located mainly in the presacral (retrorectal) space and predominately affect middle-aged women (40-60 years). Taking into account location and histological characteristics, the main differential diagnoses include epidermoid cysts, duplication cysts and teratomas. Malignant transformation of these lesions is rare and preferentially into adenocarcinoma and neuroendocrine tumors. We present a case of an intestinal cyst associated with a well-differentiated neuroendocrine tumor (G1) in a 63-year-old woman.

[Cystic tubulopapillary adenoma with apocrine differentiation and BRAF V600E mutation. A case report and review of the literature]. / Adenoma tubulopapilar quístico con diferenciación apocrina: descripción de un caso con mutación de BRAF V600E y revisión de la literatura.

Syringocystadenoma papilliferum (SCAP), tubular adenoma (TA) and hydrocystoma (HC) are benign adnexal tumors. Recently it has been suggested that these lesions belong to the same morphological spectrum: Tubulopapillary cystic adenoma with apocrine differentiation (TPCAa). BRAF and K-Ras (KRAS) mutations have been described in SCAP and TA, but not in HC. Moreover, verrucous epithelial proliferations have been observed in TPCAa. We present a case of TPCAa with BRAF V600E mutation and BRAF VE1 immunohistochemical expression in the SCAP, AT, HC and verrucous hyperplasia components.

[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report]. / Síndrome de leiomiomatosis hereditaria asociado a carcinoma de células renales. Presentación de un caso.

Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.

Carcinoma de células renales asociado a amplificación del gen TFEB. Presentación de un caso y revisión de la literatura / TFEB-amplified renal cell carcinoma. A case report and review of the literature

Los carcinomas renales asociados a translocación de factores de transcripción de la familia MiT/TFE incluyen, según la última clasificación de la Organización Mundial de la Salud, carcinomas con translocación Xp11 que involucran al gen TFE3 y carcinomas con translocación t(6;11)(p21;q12) que afectan al gen TFEB. Cada uno de estos subtipos presenta características clinicopatológicas y moleculares bien definidas. Actualmente, con el desarrollo de las técnicas moleculares se han descrito neoplasias con sustento molecular en estos mismos genes, pero con alteraciones distintas a la translocación. En este sentido, recientemente se han publicado carcinomas renales asociados a amplificación de TFEB que presentan diferencias pronósticas a los casos asociados a translocación y que podrían, por tanto, constituir una nueva entidad. Nosotros presentamos un caso de carcinoma renal asociado a amplificación de TFEB, describimos sus características clinicopatológicas y hacemos una revisión actualizada sobre estas neoplasias

Renal carcinomas associated with translocation of transcription factors of the MiT/TFE family include, according to the latest World Health Organization classification, carcinomas with Xp11 translocation that involve the TFE3 gene and those with translocation t(6;11)(p21;q12) that affect the TFEB gene. Each one of these sub-types have well-defined clinicopathological and molecular characteristics. Currently, progress in molecular techniques has led to the description of neoplasms with molecular changes in these same genes but with alterations different to translocation. Thus, recently, cases have been published of TFEB-amplified renal carcinomas with prognoses that vary from cases associated with translocation and could therefore represent a new entity. We present a case of TFEB-amplified renal carcinoma with a full description of the clinicopathological characteristics and an updated revision of these neoplasms

[TFEB-amplified renal cell carcinoma. A case report and review of the literature]. / Carcinoma de células renales asociado a amplificación del gen TFEB. Presentación de un caso y revisión de la literatura.

Renal carcinomas associated with translocation of transcription factors of the MiT/TFE family include, according to the latest World Health Organization classification, carcinomas with Xp11 translocation that involve the TFE3 gene and those with translocation t(6;11)(p21;q12) that affect the TFEB gene. Each one of these sub-types have well-defined clinicopathological and molecular characteristics. Currently, progress in molecular techniques has led to the description of neoplasms with molecular changes in these same genes but with alterations different to translocation. Thus, recently, cases have been published of TFEB-amplified renal carcinomas with prognoses that vary from cases associated with translocation and could therefore represent a new entity. We present a case of TFEB-amplified renal carcinoma with a full description of the clinicopathological characteristics and an updated revision of these neoplasms.

Liposarcoma pleomórfico: estudio molecular de un caso y revisión bibliográfica / Pleomorphic liposarcoma: molecular study of one case and bibliographic review

El liposarcoma pleomórfico es un sarcoma de alto grado que ocurre generalmente en la sexta-séptima décadas de la vida, afecta principalmente a partes blandas profundas de las extremidades inferiores y muestra una amplia variedad de patrones morfológicos, por lo que puede confundirse con otras lesiones tanto adipocíticas como no adipocíticas. La identificación definitiva de lipoblastos pleomórficos, que pueden ser muy escasos, es un requisito indispensable para el diagnóstico, por lo que es recomendable un muestreo amplio del tumor (AU)

Pleomorphic liposarcoma is a high grade sarcoma occurring generally in the sixth to seventh decades of life and mainly affects the deep soft tissue of the lower extremities. As it can show a wide variety of morphologic patterns, it may be confused with other adipocytic and non adipocytic lesions. Definitive identification of pleomorphic lipoblasts is indispensable for diagnosis; however, as they can be very scarce, extensive sampling of the tumor is recommended (AU)

[Pseudomyogenic hemangioendothelioma in the upper limb: A case report and literature review]. / Hemangioendotelioma pseudomiogénico en miembro superior: descripción de un caso y revisión de la literatura.

Pseudomyogenic hemangioendothelioma, also called epithelioid sarcoma-like hemangioendothelioma, is a rare, vascular neoplasm usually with indolent behaviour. It was introduced in the latest World Health Organization (WHO) Classification of Tumours of Soft Tissue. We report a case of a 45 year-old patient presenting with a localized, palpable and slightly painful lesion in the left arm. Histologically it consisted of fascicles of spindle and epithelioid cells with ample eosinophilic cytoplasm, without nuclear pleomorphism or significant mitotic activity. Tumour cells showed diffuse expression for cytokeratin AE1/AE3, CD31 and FLI1, intact expression for INI1 and negativity for CD34. We describe the clinical, histological, molecular and immunohistochemical features of pseudomyogenic hemangioendothelioma and review the pertinent literature.

Hemangioendotelioma pseudomiogénico en miembro superior: descripción de un caso y revisión de la literatura / Pseudomyogenic hemangioendothelioma in the upper limb: a case report and literature review

El hemangioendotelioma pseudomiogénico, también conocido como hemangioendotelioma tipo sarcoma epitelioide, es una neoplasia vascular infrecuente de comportamiento habitualmente indolente introducida en la última clasificación de tumores de partes blandas de la clasificación de la Organización Mundial de la Salud (OMS). Presentamos el caso de una paciente de 45años con una lesión localizada en el miembro superior izquierdo. Clínicamente se presentó como una lesión palpable y discretamente dolorosa. Histológicamente estaba constituida por fascículos de células fusiformes y células de aspecto epitelioide con amplio citoplasma eosinófilo sin pleomorfismo nuclear ni actividad mitótica significativa. Las células tumorales mostraron expresión fuerte y difusa para citoqueratina AE1/AE3, CD31 y FLI1, manteniendo la expresión nuclear de INI1 y existiendo negatividad para CD34. En el presente artículo revisamos la literatura médica sobre esta entidad y describimos sus características clínicas, histológicas, inmunohistoquímicas y moleculares (AU)

Pseudomyogenic hemangioendothelioma, also called epithelioid sarcoma-like hemangioendothelioma, is a rare, vascular neoplasm usually with indolent behaviour. It was introduced in the latest World Health Organization (WHO) Classification of Tumours of Soft Tissue. We report a case of a 45 year-old patient presenting with a localized, palpable and slightly painful lesion in the left arm. Histologically it consisted of fascicles of spindle and epithelioid cells with ample eosinophilic cytoplasm, without nuclear pleomorphism or significant mitotic activity. Tumour cells showed diffuse expression for cytokeratin AE1/AE3, CD31 and FLI1, intact expression for INI1 and negativity for CD34. We describe the clinical, histological, molecular and immunohistochemical features of pseudomyogenic hemangioendothelioma and review the pertinent literature (AU)

Tumor híbrido de la vaina del nervio periférico de localización digital con componente neurofibroma-perineuroma. Descripción de un caso y revisión de la literatura / Digital hybrid peripheral nerve sheath tumour with neurofibroma-perineurioma components: a case report and review of the literature

El tumor híbrido de vaina de nervio periférico es una neoplasia mesenquimal benigna de la que se han publicado pocos casos, que ha sido incluida recientemente en la clasificación de la OMS de partes blandas, y que muestra una amplia distribución, afectando predominantemente a extremidades y tronco. Los hallazgos histológicos revelan la presencia de 2 o más componentes celulares diferentes originados en la vaina del nervio periférico con una proporción variable de neurofibroma, schwannoma y perineuroma. Describimos el caso de un paciente varón de 65 años de edad con un nódulo no doloroso en el quinto dedo de mano izquierda, que presenta componentes de neurofibroma y perineuroma. Describimos los hallazgos histológicos e inmunohistoquímicos reportados en la literatura más reciente acerca de este tumor peculiar y poco reconocido (AU)

Hybrid peripheral nerve sheath tumour is a rare mesenchymal benign neoplasm recently included in the WHO classification of soft tissue tumours. It has a wide distribution but predominantly affects limbs and trunk. Histological findings reveal the presence of 2 or more cellular components originating in the peripheral nerve sheath with variable proportions of neurofibroma, schwannoma and perineurioma. We report a case of a 65-year-old male with a painless nodule in the 5th finger of his left hand which showed microscopic features of neurofibroma and perineurioma. We review the histological and immunohistochemical findings of this unusual, and often over-looked, tumour in the recent literature (AU)

Mutación de BRAFV600E en restos nefrogénicos perilobares hiperplásicos activos asociados a adenoma metanéfrico / BRAFV600E mutation in active hyperplastic perilobar nephrogenic rests associated with metanephric adenoma

La cascada de señalización intracelular RAS/RAF/MEK/ERK es una de las vías moleculares más frecuentes en la oncogénesis, actuando fundamentalmente a través de mutaciones somáticas. La mutación conductora de BRAFV600E se ha descrito entre otros en melanoma, carcinoma colorrectal, carcinoma pulmonar y carcinoma papilar de tiroides. En el 90% de los adenomas metanéfricos se encuentra presente dicha mutación. Se ha sugerido que el desarrollo de estos tumores podría estar ligado al túbulo proximal del riñón fetal o a restos nefrogénicos, los cuales son supuestos precursores del tumor de Wilms. En este artículo breve presentamos un caso de restos nefrogénicos perilobares hiperplásicos activos asociados a un adenoma metanéfrico mostrando ambas lesiones la mutación BRAFV600E estudiada por reacción en cadena de la polimerasa (AU)

The RAS/RAF/MEK/ERK intracellular signaling cascade is one of the most ubiquitous molecular pathways through which human neoplasms arise. Alterations in BRAFV600E work as well-recognized oncogenic driver mutations in melanoma, colorectal, lung and thyroid papillary carcinoma. BRAFV600E mutations have also been reported in the 90% of metanephric adenomas. It has been suggested that the development of the latter could be related to the developing proximal tubule of the foetal kidney or nephrogenic rests, which are supposed to be putative precursors of Wilms tumour. We report a case of synchronous active hyperplastic perilobar nephrogenic rests and metanephric adenoma harbouring a BRAFV600E mutation confirmed by polymerase chain reaction (AU)

Múltiples hemangiomas anastomosantes y lesiones precursoras de carcinoma de células renales asociado a enfermedad renal quística adquirida / Multiple anastomosing haemangiomas and precursor lesions of renal cell carcinoma associated with acquired cystic kidney disease

En los últimos años el campo de la uropatología ha sufrido grandes avances en el conocimiento de los tumores epiteliales renales con un creciente interés centrado en la definición y caracterización de las lesiones precursoras del carcinoma de células renales. La presencia de dichas lesiones se ha asociado en ocasiones a riñones en fase terminal con enfermedad renal quística adquirida. Así mismo se ha descrito recientemente la coexistencia de hemangiomas anastomosantes en dicho contexto. Presentamos un caso de riñón en fase terminal por nefropatía lúpica en hemodiálisis con presencia de múltiples hemangiomas anastomosantes, enfermedad renal quística adquirida y lesiones precursoras de carcinoma de células renales, realizando una revisión de las características clínicas, histológicas e inmunohistoquímicas de las mismas (AU)

Over the last few years remarkable progress has been made in the field of uropathology. Epithelial renal tumours have been a subject of debate with special interest in the definition and characterization of its precursors lesions. Its presence has been associated with end-stage kidney disease due to acquired cystic kidney disease. Moreover, recently the coexistence of anastomosing hemangiomas has been reported in this context. We report a case of end-stage kidney disease due to lupus nephritis in haemodialysis with the presence of multiple anastomosing haemangiomas, acquired cystic renal disease and precursor lesions of renal cell carcinoma and discuss its clinical, histological and immunohistochemical features (AU)

Poorly differentiated early gastric adenocarcinoma of mixed type with "crawling" pattern of extensión

No disponible

Toxic epidermal necrolysis in polymedicated patient treated with radiotherapy.

Temozolomide is an oral alkylating agent indicated for the treatment of patients with glioblastoma multiforme concomitantly with radiotherapy and subsequently as monotherapy treatment. We report the case of a patient who developed toxic epidermal necrolysis (TEN) while she was being treated with chemoradiotherapy and several drugs. Cutaneous tests were performed with the drugs involved with negative result. Although the occurrence of TEN contraindicates suspected drug readministration, we based the decision to perform the controlled administration of temozolomide on the following reasons: (1) the poor prognosis of the underlying disease, (2) the lack of therapeutic alternatives, (3) the suspicion that other drugs taken by the patient simultaneously may be responsible (as anticonvulsants and trimethoprim sulfamethoxazole [TMP-SMX]), and (4) temozolomide was the first choice for treating the patient's disease. The administration of a cumulative dose of 60 mg of temozolomide caused a slight skin reaction. Given this result, we conducted controlled administration of other drugs involved. Dexamethasone, codeine, omeprazole and levetiracetam were well tolerated. However, TMP-SMX produced a similar reaction to that caused by temozolomide. In conclusion, we present the first case of TEN induced by temozolomide and TMP-SMX associated with cranial radiotherapy confirmed by controlled administration. Radiotherapy in combination with these drugs could have favored TEN, as some authors have postulated, but we cannot prove this.

Angiofibroma de células gigantes en mucosa yugal: una entidad rara en una localización infrecuente / A rare entity in a rare location: giant cell angiofibroma in the oral mucosa

El angiofibroma de células gigantes es una neoplasia mesenquimal benigna poco habitual descrita inicialmente en la órbita y con publicaciones posteriores en otras localizaciones menos frecuentes. En este sentido, la ubicación en la cavidad oral es muy poco habitual. Los hallazgos histológicos son los de una proliferación de células fusiformes dispuestas en un estroma fibromixoide sin patrón definido y con la presencia característica de células gigantes multinucleadas, en ocasiones dispuestas en torno a espacios pseudovasculares. Aportamos un nuevo caso de esta entidad en la cavidad oral y describimos los datos histológicos, inmunohistoquímicos y moleculares reseñados en la bibliografía más reciente (AU)

Giant cell angiofibroma is a rare benign mesenchymal neoplasm originally described in the ocular orbit. Since then, it has been reported in several less frequent extraorbitary locations, including the oral cavity. Histologically the tumour is composed of a disorganized proliferation of spindle cells in a fibromyxoidstroma with giant multinucleated cells around pseudovascular spaces. We report a new case of this entity in the oral cavity together with an up-to-date review of the histological, immunohistochemical and molecular features reported in the literature (AU)

Intestinal-type poorly differentiated gastric adenocarcinoma with microsatellite instability and defective DNA mismatch repair proteins expression / Adenocarcinoma gástrico pobremente diferenciado de tipo intestinal con inestabilidad de microsatélites y expresión defectuosa de proteínas de reparación del ADN

No disponible

Gastrointestinal stromal tumors: morphological, immunohistochemical and molecular changes associated with kinase inhibitor therapy.

Recurrent or metastatic GISTs are currently treated with kinase inhibitors since they achieves disease control in 70-85% of patients but this response depend on KIT and PDGFRA gene mutation status. We review the morfological and molecular findings associated to kinase inhibitors administration in GISTs based on the literature on Medline and authors' own experience. The initial response to kinase inhibitors (imatinib mesylate, Gleevec, Novartis) usually is partial and depend on the mutational KIT or PDGFRA state. Amongst patients wih KIT mutations, the best results are achived in those harboring exon 11 (85%) and exon 9 (45%) mutations. GISTs harboring PDGFRA gene mutations generally respond favorably except those involving the Asp842Val mutation. In the absence of KIT/PDGFRA gene mutations, partial response or disease stabilization is reported in 23% and 50% of patients, respectively, and disease progression in 19%. Histological examination of tumors displaying an initial response to imatinib reveals a highly-variable reduction in the number of tumor cells, a decline in the proliferative index, myxohyaline or sclerohyaline stroma, and a varying degree of bleeding and edema, necrosis and cystification. 72% of patients with initial good response to imatinib, display metastases or new nodule growth within an existing clinically-quiescent tumor after 12-36 months of treatment. This secondary resistance is characterized by a number of well-defined morphological and molecular changes. Histologically, the new growths display increased mitotic activity, pleomorphism, an epithelioid or mixed phenotype and persistent KIT expression although more rarely, dedifferentiation and loss of KIT expression (Fig. 4), as well as trans-differentiation into a rhabdomyosarcoma or epithelial phenotype has been reported. Molecularly, 46-67% of patients present additional KIT mutations, generally in the kinase domain (exons 13, 14 and 17) but also in the ATP-binding domain (exons 15,16) of the same allele. Secondary PDGFRA mutations are very rare. Secondary mutations have not been observed in GISTs not harboring KIT/PDGFRA mutations, or in tumors displaying an unusual morphology or loss of CD117 expression. A number of studies highlight the presence of different resistance mutations within different new tumor nodules, as well as the simultaneous development of distinct resistant tumor subclones within a single lesion (acquired polyclonal resistance). Secondary mutation in genes other than KIT/PDGFRA has only been reported in BRAF (Val600Glu).

Avances en los tumores del estroma gastrointestinal / A review of the recent advances in gastrointestinal stromal tumours

Los tumores del estroma gastrointestinal (GIST) son las neoplasias mesenquimales más comunes del tubo digestivo y representan uno de los mejores modelos de tratamiento farmacológico dirigido a dianas moleculares específicas. En general, el diagnóstico morfológico no plantea mayores problemas debido a que el cuadro histológico (celularidad fusiformes y/o epiteliode) e inmunohistoquímico (expresión de CD117, CD34 y, más eventualmente, de actina de músculo liso, desmina e incluso proteína S-100) suele ser bastante característico. No obstante, en el 5–10% de los casos la histología y los resultados inmunohistoquímicos no son los esperados y el diagnóstico debe descansar en la demostración mediante técnicas de biología molecular de mutaciones en KIT o PDGFRA, ya que el diagnóstico correcto es requisito necesario para la aplicación de la terapia específica. En el presente artículo llevamos a cabo una revisión sobre los avances acontecidos en 5 aspectos fundamentales sobre la biología y diagnóstico de estas neoplasias: nuevos marcadores inmunohistoquímico, factores pronósticos, biología molecular, síndromes clínicos asociados y respuesta tisular a los inhibidores de tirosin quinasa(AU)

Gastrointestinal stromal tumours (GIST) are the most common mesenchymal neoplasms of the intestinal tract and are one of the best models for treatment with molecular target therapy. Morphological diagnosis does not usually present many problems due to the presence fusiform and/or epitheliod cells together with the characteristic immunohistochemical expression of CD117, CD34 and, less frequently, smooth muscle actin, desmin and even S-100 protein. However, unexpected histological and immunohistochemical results are found in 5 to 10% of cases. In such unusual cases, molecular biology is needed to demonstrate c-KIT or PDGFRA mutations in order to make a correct diagnosis, which is a necessary prerequisite for molecular target therapy. The present article reviews recent advances in five fundamental biological and diagnostic aspects of GIST: new immunohistochemical markers, prognostic factors, molecular biology, associated clinical syndromes and tissue response to tyrosine kinase inhibitors(AU)