Diffuse coexpression of thyroid transcription factor-1 and p40 in a non-small cell carcinoma of the lung: Second case in the female population / Coexpresión difusa del factor de transcripción tiroidea 1 y p40 en un carcinoma de célula no pequeña del pulmón: segundo caso en la población de sexo femenino

Some non-small cell carcinomas of the lung can express TTF1 and p40 in the same tumor cells. This event has been described in only six cases prior to this one, and only in one other female. It is an extraordinary event that appears as a new entity yet to be defined. The case presented is a woman with a non-small cell lung carcinoma with diffuse coexpression of TTF1 and p40 in the same cells. (AU)

Algunos carcinomas de célula no pequeña del pulmón pueden expresar TTF1 y p40 en las mismas células tumorales. Este evento se ha descrito únicamente en 6 casos anteriores a este, y solo en otra persona del sexo femenino. Se trata de un evento extraordinario que se muestra como una nueva entidad todavía por definir. El caso que se presenta versa sobre una mujer con un carcinoma de pulmón de célula no pequeña con coexpresión difusa en las mismas células de TTF1 y p40. (AU)

Diffuse coexpression of thyroid transcription factor-1 and p40 in a non-small cell carcinoma of the lung: Second case in the female population.

Some non-small cell carcinomas of the lung can express TTF1 and p40 in the same tumor cells. This event has been described in only six cases prior to this one, and only in one other female. It is an extraordinary event that appears as a new entity yet to be defined. The case presented is a woman with a non-small cell lung carcinoma with diffuse coexpression of TTF1 and p40 in the same cells.

¿Está indicada la gastrectomía profiláctica en pacientes sanos portadores del gen CDH1 para el cáncer gástrico difuso hereditario? / Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer?

Introducción: el cáncer gástrico difuso hereditario (CGDH) constituye uno de los síndromes de cáncer hereditario recientemente comunicados. Aquellos pacientes con sospecha de CGDH deben ser vigilados con endoscopia y toma múltiples de biopsias. Como alternativa, algunos autores proponen la realización de gastrectomía profiláctica (GP) en los portadores de la enfermedad. El objetivo de este trabajo es presentar nuestra experiencia con una familia portadora de la mutación CDH1 a los que se realizó una GP. Pacientes y métodos: nuestro caso índice corresponde a una mujer de 34 años que se diagnosticó de un adenocarcinoma gástrico difuso con carcinomatosis masiva. Presentaba antecedentes familiares de adenocarcinoma gástrico en siete ascendientes. Se realizó un estudio genético mediante secuenciación de CDH1, en el cual se encontró la mutación c1577G>A en el exón 11 del gen CDH1. Resultados: esta mutación estaba también presente en otros seis familiares de la paciente, a los que se les realizó una gastrectomía profiláctica. La anatomía patológica de los estómagos de estos pacientes informó de múltiples focos microscópicos de adenocarcinoma en cinco de ellos, a pesar de que en las numerosas endoscopias realizadas antes de la cirugía no fueron detectados. Conclusiones: recomendamos realizar una gastrectomía profiláctica en los pacientes portadores del gen CDH1 a pesar de ausencia de lesiones tumorales en el screening endoscópico

Introduction: hereditary diffuse gastric cancer (HDGC) is a recently reported hereditary cancer syndrome. Patients with suspected HDGC must be under surveillance via endoscopy and multiple biopsies. As an alternative, some studies suggest prophylactic gastrectomy (PG) for disease carriers. The goal of this article was to report our experience with a CDH1 mutation positive family who underwent PG. Patients and methods: the index case was a 34-year-old female diagnosed with diffuse gastric adenocarcinoma and massive carcinomatosis. There was a family history of gastric adenocarcinoma in seven family members. A genetic study identified the c.1577G>A mutation, in exon 11 of the CDH1 gene via sequencing analysis. Results: this mutation was also present in other six family members, who subsequently underwent prophylactic gastrectomy. The pathology study of resected gastric segments revealed multiple microscopic foci of adenocarcinoma in five of these individuals. These foci were not detected in the multiple endoscopies performed before surgery. Conclusions: we recommend prophylactic gastrectomy for CDH1 mutation carriers even in the absence of lesions during endoscopic screening

Enterocolitis eosinofílica: presentación de un caso y revisión de la bibliografía / Eosinophilic enterocolitis: A case report and literature review

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Trasplante hepático en paciente con cirrosis secundaria a glucogenosis tipo IIIa y carcinoma hepatocelular / Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma

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Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma.

Type III glycogen storage disease (GSD-III) is an autosomal recessive disorder due to the deficiency of the glycogen debrancher enzyme. 80% of the patients have hepatic and muscular involvement (IIIa), compared to 15% with only liver involvement (IIIb). As the life expectancy improves in these patients, the possible liver complications are better understood.

Is prophylactic gastrectomy indicated for healthy carriers of CDH1 gene mutations associated with hereditary diffuse gastric cancer?

INTRODUCTION: hereditary diffuse gastric cancer (HDGC) is a recently reported hereditary cancer syndrome. Patients with suspected HDGC must be under surveillance via endoscopy and multiple biopsies. As an alternative, some studies suggest prophylactic gastrectomy (PG) for disease carriers. The goal of this article was to report our experience with a CDH1 mutation positive family who underwent PG. PATIENTS AND METHODS: the index case was a 34-year-old female diagnosed with diffuse gastric adenocarcinoma and massive carcinomatosis. There was a family history of gastric adenocarcinoma in seven family members. A genetic study identified the c.1577G>A mutation, in exon 11 of the CDH1 gene via sequencing analysis. RESULTS: this mutation was also present in other six family members, who subsequently underwent prophylactic gastrectomy. The pathology study of resected gastric segments revealed multiple microscopic foci of adenocarcinoma in five of these individuals. These foci were not detected in the multiple endoscopies performed before surgery. CONCLUSIONS: we recommend prophylactic gastrectomy for CDH1 mutation carriers even in the absence of lesions during endoscopic screening.

Valor de la determinación inmunohistoquímica de SMARCA4/BRG1 en el diagnóstico del carcinoma de ovario de célula pequeña variante hipercalcémica. Presentación de dos casos / The value of immunohistochemistry using SMARCA4/BRG1 in the diagnosis of small cell ovarian carcinoma hypercalcemic type. A report of two cases

El carcinoma de células pequeñas de ovario variante hipercalcémica se describe dentro de los tumores de origen histológico incierto. Presentamos 2 casos en mujeres de 32 y 29años de edad, respectivamente. En el momento del diagnóstico ambas pacientes presentaban masas de gran tamaño en las que no era posible realizar cirugía completa. Histológicamente los dos tumores mostraban una proliferación celular difusa de células pequeñas con espacios pseudofoliculares. La imagen microscópica, en ambos casos, planteó diagnóstico diferencial con entidades como el tumor de células de la granulosa tipo adulto o juvenil, el carcinoma de células pequeñas de tipo pulmonar, el disgerminoma, e incluso con un tumor neuroectodérmico periférico. Para ello, la ausencia de inmunotinción para SMARCA4/BRG1 en la totalidad de las células tumorales junto a una imagen histológica concreta son de gran utilidad en el diagnóstico de esta entidad (AU)

Small cell carcinoma of ovary-hypercalcemic type is an undifferentiated carcinoma. We describe two cases in women aged 32 and 29. Both presented with large masses and complete surgical extirpation was impossible. Histologically, the images were similar, with diffuse cell proliferation, accompanied by the presence of follicle-like spaces. In both cases it was necessary to make a differential diagnosis with entities such as adult or juvenile granulosa cell tumour, small cell carcinoma of pulmonary type, dysgerminoma and even peripheral neuroectodermal tumour. The absence of SMARCA4/BRG1 immunostaining proved very useful in the diagnosis of hypercalcemic small cell ovarian carcinoma (AU)

[The value of immunohistochemistry using SMARCA4/BRG1 in the diagnosis of small cell ovarian carcinoma hypercalcemic type. A report of two cases]. / Valor de la determinación inmunohistoquímica de SMARCA4/BRG1 en el diagnóstico del carcinoma de ovario de célula pequeña variante hipercalcémica. Presentación de dos casos.

Small cell carcinoma of ovary-hypercalcemic type is an undifferentiated carcinoma. We describe two cases in women aged 32 and 29. Both presented with large masses and complete surgical extirpation was impossible. Histologically, the images were similar, with diffuse cell proliferation, accompanied by the presence of follicle-like spaces. In both cases it was necessary to make a differential diagnosis with entities such as adult or juvenile granulosa cell tumour, small cell carcinoma of pulmonary type, dysgerminoma and even peripheral neuroectodermal tumour. The absence of SMARCA4/BRG1 immunostaining proved very useful in the diagnosis of hypercalcemic small cell ovarian carcinoma.

Estudio macro y microscópico de salpingectomías profilácticas en mujeres BRCA positivo / Macro and microscopic study of prophylactic salpingectomy in women with BRCA mutations

El cáncer seroso ovárico está englobado dentro del carcinoma de ovario. Se distinguen 1 tipos de carcinomas serosos: tipo 1 (mutación frecuente de PTEN, KRAS y BRAF) que corresponde al carcinoma seroso de bajo grado y tipo 2 (mutación frecuente de p53) que corresponde al carcinoma seroso de alto grado. Su origen ha sido motivo de controversia; clásicamente predominaba la hipótesis de la ovulación incesante, que atribuía el origen a daños en la superficie ovárica durante la ovulación y metaplasias posteriores. Actualmente se han propuesto hipótesis que sitúan a la trompa de Falopio como el origen del carcinoma seroso ovárico de alto grado. Con el fin de demostrar esta hipótesis, se analizaron 20 muestras consecutivas de pacientes salpingooforectomizadas bilateralmente con mutaciones en BRCA1-2 conocidas. Se estudió la trompa macroscópicamente según el protocolo SEE-FIM y se siguió el algoritmo diagnóstico de carcinoma intraepitelial tubárico seroso de Kurman. Se realizó inmunohistoquímica para Ki-67 y p53 en todas las secciones. Así encuadramos a todas las trompas estudiadas en 4 categorías: normal, STIC (carcinoma intraepitelial), STIL (lesión tubárica intraepitelial en transición) y señal p53. En nuestra serie hemos obtenido 7 casos con diagnósticos diferentes al normal (35%): 2 STIL (10%) y 5 señal p53 (25%). El resto de trompas no mostraron atipia citológica ni inmunotinción con los anticuerpos usados. El estudio de los ovarios no mostró lesiones en ninguno de los casos. Estos resultados están de acuerdo con los obtenidos por otros investigadores, reflejando una lesión tubárica inicial, que revela una mutación del gen supresor de tumores (p53) que podría jugar un papel importante en la tumorogénesis del carcinoma seroso ovárico de alto grado (AU)

Serous ovarian cancer is a type of ovarian carcinoma. Two subtypes of serous carcinoma can be distinguished: Type 1 (frequent mutation of PTEN, KRAS and BRAF), corresponding to low-grade serous carcinoma, and Type 2 (frequent mutation of p53), corresponding to high-grade serous carcinoma. Its origin is not clear; classically causative factors included continuous ovulation, damage to the ovarian surface during ovulation and subsequent metaplasia. However, recently it has been proposed that the fallopian tube may be the origin of high-grade serous carcinoma. In order to test this hypothesis, we analyzed samples from 20 patients with known mutations in BRCA1-2 who had undergone bilateral salpingo-oophorectomy. The fallopian tube was studied macroscopically following the SEE-FIM protocol and Kurman's algorithm for the diagnosis of serous tubal intraepithelial carcinoma. All the sections were tested immunohistochemically with Ki-67 and p53 and the fallopian tubes were classified into 4 categories: normal, STIC (intraepithelial carcinoma), STIL (intraepithelial tubal lesion in transition) and p53 signature. In the series studied, 7 cases (35%) were diagnosed as abnormal: 2 STIL (10%) and 5 p53 signature (25%). The rest of the fallopian tubes showed no cytological atypia or immunostaining with the antibodies used. A study of the ovaries found no lesions in any of the cases. These findings agree with the results of other authors, and point to an initial lesion in the tube, reflecting a mutation of a tumour-suppressing gene (p53), which might play an important role in the development of high grade ovarian serous carcinoma (AU)

Tumor de GIST de intestino delgado como causa de hemorragia digestiva de origen oculto manifiesta diagnosticado por cápsula endoscópica / Overt obscure gastrointestinal bleeding secondary to small bowel gastrointestinal stromal tumor diagnosed by videocapsule endoscopy

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