Introduction: Metastatic tumors of oral and maxillofacial region compromise 1% of all malignant oral neoplasms. Most commonly affect the jaw bone and less commonly intraoral soft tissues. They originate mainly from primary tumors of lung, breast, colon-rectum, prostate and kidney. Case report: a 77 years old man with history of sigmoid colon adenocarcinoma and liver metastasis. Two years later of being free of disease, he presented with submandibular lymphadenopathy and a gingival mass in right upper jaw. Fine needle aspiration of the node and biopsy of the gingival mass were performed. The cytological smears showed cohesive cell groups on a necrotic background. Biopsy examination showed subepithelial infiltration by neoplasm of glandular pattern with immunoreactivity for keratin 20 and carcinoembryonic antigen. A definitive diagnosis of node and oral metastases of colon adenocarcinoma was made. Discussion: Metastases in the oral and maxillofacial region are very uncommon and usually represent an advanced stage and disseminated disease. They present non specific radiologic and clinical features so it is imperative to reach a definitive diagnosis the cytological/histological examination. Because of its rarity, the diagnosis of metastases in the oral region are a challenging, both to the clinician and to the pathologist, in recognising that a lesion is metastasic and in determining the site of origin.
Introduction: Invasive micropapillary carcinoma (IMPC) of the breast is a rare and aggressive subtype of invasive ductal carcinomas, associated with poor prognosis and without a well-established treatment. Programmed death-ligand 1 (PD-L1) expression, high tumor-infiltrating lymphocytes (TILs), and microsatellite instability have recently been linked to susceptibility to immunotherapies against PD-1/PD-L1 axis. No exhaustive data is available on the status of these predictive markers in IMPCs of the breast. The aim of our study is to analyze PD-L1 expression, stromal TIL (sTIL), and mismatch repair (MMR) gene status in IMPCs of the breast, to extend the therapeutic possibilities of these rare aggressive tumors. Materials and Methods: Thirty-seven cases of IMPCs diagnosed in two European institutions between 2003 and 2017 with detailed clinical and pathologic data were analyzed. sTILs were assessed in hematoxylin and eosin-stained sections. MMR deficiency was tested by either immunohistochemistry (IHC) for MMR proteins (MLH1, MSH2, MSH6, and PMS2) or capillary electrophoresis for microsatellite instability using a standardized panel of five loci (Bat25, Bat26, D2S123, D5S346, and D17S250). For PD-L1, expression in both tumor cells (TCs) and immune cells (ICs) was determined using the antibody clone SP263. Results: The median sTILs was 3% (mean: 6%, range: 0-40). Thirty-one cases (84%) showed ≤10% of sTILs and only one case had 40% of sTILs. Higher median TILs were more frequently observed in lymph node metastases. PD-L1 expression (≥1%) was observed in 4 (11%) and 14 (38%) cases in TCs and ICs, respectively. None of the tumors showed PD-L1 expression in >1% of TCs. Only three cases showed expression in >10% of ICs. All cases were microsatellite stable by either IHC or polymerase chain reaction analyses. Conclusions: IMPCs of the breast are microsatellite-stable and immune desert tumors with low PD-L1 expression, thus arguing against the use of immune-checkpoint inhibitors in these patients. Active immunotherapy strategies attempting to stimulate self-immune system to attack tumor are needed.
ResumenIntroducción. Los hemangioblastomas son neoplasias benignas que se originan en el sistema nervioso central y constituyen entre un 1,5-2,5% de los tumores intracraneales. Mayoritariamente son de localización infratentorial, afectando principalmente al cerebelo (76%). Las lesiones supratentoriales son sumamente raras, siendo en estos casos la localización más habitual el lóbulo frontal, parietal o temporal. La afectación meníngea es excepcional, habiéndose descrito sólo ocho casos en la literatura. En un 30% de los casos, estos tumores se asocian al síndrome de von Hippel Lindau (VHL).Caso clínico. Mujer de 67 años sin antecedentes patológicos ni familiares de interés que se presentó con clínica neurológica de 4 meses de evolución. El estudio de resonancia magnética craneal demostró una lesión única sólido-quística frontal paramedial derecha, en contacto con la hoz del cerebro, que se orientó como meningioma. El estudio anatomo-patológico de la pieza quirúrgica objetivó una proliferación celular constituida por células poligonales con citoplasma claro debido a la presencia de vacuolas intracitoplasmáticas y núcleo redondo u oval sin atipia citológica. Estas células estaban acompañadas de una rica red vascular de tipo capilar, con anastomosis y extravasación sanguínea. Se diagnosticó de hemangioblastoma supratentorial.Discusión. El diagnóstico preoperatorio de estas neoplasias es difícil debido a que la sospecha clínica es baja cuando se halla en localización supratentorial. Las técnicas de imagen son de utilidad, realizándose el diagnóstico definitivo a través del estudio anatomopatológico. El uso de técnicas de inmunohistoquímica es de gran ayuda para el diagnóstico diferencial con lesiones que habitualmente se localizan en esta región. La importancia de un diagnóstico correcto de estos tumores histológicamente benignos, radica, entre otras cosas, en la posible asociación con en síndrome de VHL y sus complicaciones.PALABRAS CLAVE: Hemangioblastoma supratentorial. Hoz del cerebro. Tumor del Sistema Nervioso Central. Von Hippel Lindau. Solid-cystic supratentorial hemangioblastoma affecting the falx cerebri. Report of a case SummaryIntroduction. Hemangioblastomas are benign neoplasias that are originated in the central nervous system and constitute between 1.5-2.5% of intracranial tumors. The majority of them are infratentorial, mainly affecting the cerebellum (76%). Supratentorial lessions are rare, being in these cases the frontal, parietal or temporal lobes the most common locations. Meningeal involvement is infrequent. Only eight cases have been reported in the literature. In 30% of the cases, these tumors are associated with von Hippel Lindau syndrome (VHL).Case report. 67 year old woman without any medical or family history. She presented with 4 month evolution neurological symptoms. The cranial MRI scan showed a solitary solid-cystic lesion on the right paramedian frontal lobe, in contact with the falx cerebri. The pathological analysis showed a cellular proliferation composed of polygonal cells with cl...
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