Hybrid oncocytic/chromophobe tumor (HOCT) of the kidney arising from a precursor oncocytosis not associated with the Birt-Hogg-Dubé (BHD) syndrome is an unusual and highly interesting neoplasm. Immunohistochemical and molecular findings suggest that HOCT is an entity distinct from both oncocytoma and chromophobe carcinoma. Although uncertainty persists regarding the factors predisposing to the development of HOCT, experimental findings suggest that it may arise due to the effect of toxins or in association with chronic kidney failure. The potential role of prior renal lymphoma in the development of oncocytosis has not hitherto been examined. We present a morphological, immunohistochemical, and molecular analysis of an HOCT arising from renal oncocytosis in conjunction with CLL affecting the kidney. The findings suggest that this tumor belongs to a family of similar neoplasms including oncocytoma, the eosinophilic variant of chromophobe renal-cell carcinoma (CRCC), and low-grade oncocytic tumor, even though these neoplasms may arise from different precursor lesions. HOCT and oncocytosis revealed the same immunohistochemical profile consistent on positivity for epithelial membrane antigen (EMA), cytokeratin 7 (Ck7), E-cadherin, CAM 5.2 and negativity for Pax-8, vimentin, renal-cell carcinoma (RCC) antigen, CD117, racemase, progesterone receptor, and CD10. The Ki-67 proliferation index was <1%. Molecular analysis of the tumor revealed the AKT3 gene mutation variant, classified as probably pathogenic, together with FOS1 gene amplification and no copy number variations (CNVs). Finally, we present a case of HOCT arising from a nonhereditary renal oncocytosis in conjunction with B lymphoma that raises interesting questions regarding pathogenesis.
El presente trabajo se desarrolló de julio a diciembre de 1999 en la comunidad de Yaxcabá, Yucatán, con el objetivo de describir la diversidad morfológica in situ y determinar la relación entre la clasificación de los chiles que hacen los agricultores y la variabilidad morfológica fenotípica. Durante la exploración se tomaron datos in situ de una serie de caracteres de planta, flor y fruto de 75 poblaciones o muestras en 43 parcelas de cultivos (milpa) y solares de la comunidad objetivo. De acuerdo con la denominación de los agricultores las muestras descritas se clasificaron en siete morfotipos; los primeros seis pertenecen al Capsicum annuum L. nominados como Ya’ax ic, Xcat’ic, Cha’huá, Dulce, Sucurre y Maax o Maaxito, éste último C. annuum var. Aviculare (Dierb.). Además, un morfotipo de la especie C. chinense Jacq. conocido ampliamente como Habanero. A través de la clasificación que hacen los agricultores, se reconocen tres niveles de diversidad; entre y dentro de especies, y la diversidad dentro de los morfotipos o variedades criollas, aunque ellos los llamen simplemente como tipos. Los análisis de componentes principales, conglomerados y de discriminante determinaron que existente alta consistencia, en mas de 80 % de los casos, entre la denominación que hace el agricultor de los chiles y los diferentes grupos morfológicos, incluyendo ciertos complejos fenotípicos.
Background Pleomorphic Adenoma (PA) and Basal cell adenoma (BCA) are benign salivary gland tumors that may pose a diagnostic challenge if typical features are not present. Due to the increased relapse and malignant transformation rate of the former, a correct diagnosis carries relevant prognostic information. Even though immunohistochemistry (IHC) plays a limited role in the diagnosis of these tumors, the use of IHC panels could increase diagnostic accuracy. In the present work, we aimed to demonstrate that the use of an IHC panel consisting of Glial Fibrillary Acid Protein (GFAP), B-Catenin and Discovered On GIST 1 (DOG-1) can aid in the differential diagnosis between PA and BCA. Methods We analyzed 18 cases of benign salivary gland tumors (Pleomorphic adenomas and Basal cell adenomas) with overlapping histologic features. First, a head and neck pathologist diagnosed the cases relying on morphology alone. Afterwards, cases were re-evaluated considering the IHC panel results. Inter-observer IHC scoring concordance was evaluated with pre-defined marker cut-off points using Cohen’s Kappa scores. Results Based on morphology alone, 9 cases were classified as PA while the remaining tumors were considered to be BCA. Five out of nine BCA cases showed GFAP staining and absent nuclear B-catenin and DOG-1 positivity. Conversely, 2 PA cases showed absent GFAP and positive nuclear B-catenin with concurrent DOG-1 expression. Therefore, after IHC evaluation, up to 40% of morphologic diagnoses were reconsidered. Overall, the inter-observer concordance for IHC evaluation was good (resulting Kappa Scores between 0.78 and 1). Conclusion Our work supports the use of a concise IHC panel to improve the diagnostic accuracy of benign salivary gland tumors with overlapping histologic features.
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