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1.
Gut ; 67(11): 1957, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-29247065

RESUMEN

CLINICAL PRESENTATION: A 77-year-old man presented to our skin cancer centre with various cutaneous tumours occurring in 2006-2017. Histopathology showed a 'hidradenocarcinoma' on the left upper back (2006) and a sebaceous adenoma (figure 1) on the left shoulder (2011). In 2017, he developed a sebaceous carcinoma on the middle upper back, which manifested as a slowly enlarging, asymptomatic nodule. Medical history was significant for curative resection of colorectal cancer in 1988.gutjnl;67/11/1957/F1F1F1Figure 1Clinical appearance of the sebaceous adenoma on the patient's left shoulder in 2011.The most recent lesion was subjected to extensive immunohistochemical assessment. The neoplastic cells were positive for cytokeratin 5/6, cytokeratin 7, cluster of differentiation antigen 10, adipophilin, androgen receptor, epithelial membrane antigen, KI67 antigen, MLH1 and PMS2, but stained negative for gross cystic disease fluid protein 15, prostate-specific antigen, carbohydrate antigen 19/9, CDX2 protein, hepatocyte-specific antigen, carcinoembryonic antigen, cluster of differentiation antigen 117 and cytokeratin 19. Given the variety of histological manifestations of the patient's skin neoplasms, further studies were performed. They revealed positive nuclear expression signals for MLH1, MSH6 and PMS2, whereas MSH2 expression was absent in almost all tumour cells (figure 2). Positron emission tomography (PET)/CT and colonoscopy did not detect any pathological findings. However, molecular genetic analysis of peripheral blood showed a heterozygous deletion of exon 7 of the MSH2 gene. Subsequently, several family members tested positive for MSH2 mutations and underwent genetic counselling.gutjnl;67/11/1957/F2F2F2Figure 2(A-D) Histopathological images of the patient's most recent lesion (diaminobenzidine, original magnification, ×100). The tumour cells demonstrated strong nuclear positivity for MLH1 (A) and PMS2 (B), but were essentially negative for MSH6 (C) and MSH2 (D). QUESTION: What is your diagnosis? DIAGNOSIS: Muir-Torre syndrome (MTS).


Asunto(s)
Síndrome de Muir-Torre/diagnóstico , Proteína 2 Homóloga a MutS/genética , Piel/patología , Anciano , Humanos , Masculino , Mutación , Glándulas Sebáceas/patología
2.
Wien Med Wochenschr ; 159(13-14): 355-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19652943

RESUMEN

Malignant Mixed Mullerian tumors (MMMT) are rare gynecological tumors. Even with surgical treatment, chemotherapy, and/or radiotherapy, outcome is poor. MMMTs are known to metastasize to the liver, the abdomen, and the lungs. One case of an ocular metastasis has been reported. In a 61-year-old female patient who had undergone surgical resection of a Mullerian tumor of the uterus 26 months prior to being admitted to our department, we found an obstructing left atrial mass. Histopathologic assessment of this lesion after surgical resection revealed a Mullerian tumor metastasis. Immediately after surgery, the patient was asymptomatic, but was readmitted 4 months later with dyspnoea. Echocardiography and CT revealed new masses in the left atrium and left ventricle. On a literature review, we did not find any description of left atrial and left ventricular occluding metastases of MMMT.


Asunto(s)
Disnea/etiología , Atrios Cardíacos , Neoplasias Cardíacas/diagnóstico , Ventrículos Cardíacos , Tumor Mulleriano Mixto/diagnóstico , Tumor Mulleriano Mixto/secundario , Neoplasias Uterinas/diagnóstico , Función Ventricular Izquierda/fisiología , Progresión de la Enfermedad , Ecocardiografía , Ecocardiografía Transesofágica , Femenino , Atrios Cardíacos/patología , Atrios Cardíacos/fisiopatología , Atrios Cardíacos/cirugía , Neoplasias Cardíacas/patología , Neoplasias Cardíacas/fisiopatología , Neoplasias Cardíacas/cirugía , Ventrículos Cardíacos/patología , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/cirugía , Humanos , Persona de Mediana Edad , Tumor Mulleriano Mixto/patología , Tumor Mulleriano Mixto/fisiopatología , Tumor Mulleriano Mixto/cirugía , Cuidados Paliativos , Tomografía Computarizada por Rayos X , Neoplasias Uterinas/patología , Neoplasias Uterinas/fisiopatología , Neoplasias Uterinas/cirugía
3.
World J Gastroenterol ; 14(20): 3179-82, 2008 May 28.
Artículo en Inglés | MEDLINE | ID: mdl-18506922

RESUMEN

AIM: To examine the role of coprostasis and coproliths in recurrent appendicitis. METHODS: We evaluated four hundred and twenty seven consecutive pathology reports of all appendectomy specimens from January 2003 to December 2004. Findings were categorised as showing acute appendicitis, acute recurrent appendicitis, subacute recurrent appendicitis, chronic appendicitis, or appendices without inflammation. All patients had presented with acute right lower quadrant pain. In 94 instances, there was a history of recurrent similar episodes in the past. RESULTS: Of the 427 histology reports, 294 were inter-preted as showing acute appendicitis, 56 acute recurrent appendicitis, 34 subacute recurrent appen-dicitis, 28 chronic appendicitis, and 15 non-inflamed appendices. Coprostasis was observed in 58 patients (13.58%) and the presence of coprolith in 6 (1.4%). Coprostasis, and age, were among the predictors in the final model. CONCLUSION: Coprostasis but not coproliths seems to be a contributing factor to acute exacerbations of chronic inflammatory appendicitis.


Asunto(s)
Apendicitis/etiología , Impactación Fecal/complicaciones , Enfermedad Aguda , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Apendicectomía , Apendicitis/clasificación , Apendicitis/patología , Apendicitis/cirugía , Apéndice/patología , Apéndice/cirugía , Niño , Preescolar , Enfermedad Crónica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Recurrencia , Factores de Riesgo , Terminología como Asunto
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