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Justin A Bishop - One of the best experts on this subject based on the ideXlab platform.
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SS18 Break-Apart Fluorescence In Situ Hybridization is a Practical and Effective Method for Diagnosing Microsecretory Adenocarcinoma of Salivary Glands
Head and Neck Pathology, 2021Co-Authors: Justin A Bishop, Ilan Weinreb, Prasad Koduru, Brandon M. Veremis, Bahram R. Oliai, Lisa M. Rooper, Brendan C. Dickson, Elizabeth G. DemiccoAbstract:Molecular analysis has allowed for refinement of Salivary Gland Tumor classification and, in some cases, the recognition of entirely new Tumor types. Microsecretory adenocarcinoma (MSA) is a Salivary Gland Tumor described in 2019 characterized by microcystic growth, bland cytomorphology, luminal secretions, fibromyxoid stroma, and S100/p63 positivity with negative p40. Most important, MSA is defined by MEF2C-SS18 fusion. While this fusion has, to this point, been detected by next-generation sequencing, this is a technique that is currently inaccessible in most diagnostic laboratories. On the other hand, SS18 break-apart fluorescence in situ hybridization (FISH) is widely available and frequently used as an adjunct for diagnosing synovial sarcoma. It is not known if SS18 break-apart FISH is positive in Tumors with MEF2C-SS18 , or if it is entirely specific for MSA. Break apart FISH for SS18 was performed on 4 cases of MSA, as well as 8 tissue microarrays (TMAs) containing 423 various Salivary Gland carcinomas: 26 acinic cell carcinomas, 35 adenocarcinomas not otherwise specified, 96 adenoid cystic carcinomas, 3 basal cell adenocarcinomas, 20 epithelial–myoepithelial carcinomas, 15 hyalinizing clear cell carcinomas, 3 intraductal carcinomas, 12 myoepithelial carcinomas, 117 mucoepidermoid carcinomas, 30 polymorphous adenocarcinomas, 45 Salivary duct carcinomas, 19 secretory carcinomas, and 2 undifferentiated carcinomas. SS18 break-apart FISH was also performed on whole slides of 2 Tumors from the TMAs. All MSA cases demonstrated classic split patterns on SS18 break-apart FISH. On the TMAs, 374 cases were evaluable by FISH, and 372 cases were clearly negative for SS18 rearrangement. Two cases, both mucoepidermoid carcinomas, had rare split signals below the positivity threshold of 12% on their TMA cores, so FISH was performed on whole sections. On the whole sections both Tumors were unequivocally negative for SS18 rearrangement. Taken together, SS18 break-apart FISH was 100% sensitive and 100% specific for a diagnosis of MSA. SS18 break-apart FISH, a diagnostic tool widely available in pathology laboratories, appears to be a highly accurate method for diagnosing MSA of Salivary Glands. Accordingly, this new Tumor type may be molecularly confirmed without needing to resort to highly specialized techniques like next-generation sequencing.
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low grade apocrine intraductal carcinoma expanding the morphologic and molecular spectrum of an enigmatic Salivary Gland Tumor
Head and Neck Pathology, 2020Co-Authors: Justin A Bishop, Jeffrey Gagan, Jeffrey F Krane, Vickie Y JoAbstract:Intraductal carcinoma (IDC) is the current designation for a Salivary Gland neoplasm previously referred to as "low-grade Salivary duct carcinoma" and "low-grade cribriform cystadenocarcinoma," among others. IDC is conceptually believed to be similar to ductal carcinoma in-situ of the breast. Although IDC is one entity in the current WHO Classification of Head and Neck Tumors, recent studies have suggested that at least three subtypes exist: a low-grade, intercalated duct-like variant with frequent RET rearrangements; a high-grade apocrine variant with complex, Salivary duct carcinoma-like genetics; and a mixed variant. We sought to characterize an unusual form of low-grade, purely apocrine IDC. Three cases of apocrine-type IDC with low-grade histology were retrieved from the authors' consultation files. Immunohistochemistry for androgen receptor, GCDFP-15, S100, smooth muscle actin, and p40 was performed. A custom, targeted next generation sequencing (NGS) panel including 1425 cancer-related genes was also done on all cases. All three cases developed in the parotid Glands of men, aged 51, 63, and 73 years (mean, 62 years). All cases consisted of large, rounded macrocysts surrounded by smaller nests which were lined by cells with abundant granular eosinophilic cytoplasm and large round nuclei with prominent nucleoli. Pleomorphism was mild, the mitotic rate was low, and necrosis was absent. No cases had any invasive foci or areas of intercalated duct-like morphology. By immunohistochemistry, all cases were diffusely positive for androgen receptor and GCDFP-15, surrounded entirely by an intact layer of small myoepithelial cells positive for S100, smooth muscle actin, and p40. Targeted NGS results were obtained from two cases: both harbored HRAS mutations and copy number losses in TP53, while one case each harbored mutations in PIK3CA, SPEN, and ATM. Fusions were absent in both cases. All three patients were treated by surgery alone, and are currently free of disease (follow up 12-190 months). This study confirms the existence of a low-grade, purely apocrine form of IDC. In its pure form, i.e., without an intercalated duct-type component, low-grade apocrine IDC is genetically similar to high-grade Salivary duct carcinoma, with frequent HRAS and PI3K pathway mutations. Despite its molecular similarities to the aggressive Salivary duct carcinoma, low-grade apocrine IDC appears to behave in a very indolent manner, supporting is classification as a non-invasive neoplasm, and underscoring the need to distinguish these Tumors from each other.
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microsecretory adenocarcinoma a novel Salivary Gland Tumor characterized by a recurrent mef2c ss18 fusion
The American Journal of Surgical Pathology, 2019Co-Authors: Justin A Bishop, Ilan Weinreb, David Swanson, William H Westra, Hina S Qureshi, James J Sciubba, Christina MacmillanAbstract:Salivary Gland adenocarcinoma not otherwise specified (NOS) is a heterogenous group, likely containing distinct Tumors not yet characterized. A growing number of low to intermediate-grade Salivary carcinomas are now known to harbor Tumor-specific gene fusions. On occasion, identifying a novel fusion allows for recognition of a new Salivary Tumor type, in addition to representing a potential diagnostic tool. We sought to characterize a distinctive Salivary Gland adenocarcinoma that would previously have been regarded as adenocarcinoma NOS. On the basis of the recognition of 5 morphologically identical, distinct low-grade Salivary adenocarcinomas, we used targeted RNA sequencing (RNA-Seq) to determine whether these could be differentiated from other fusion-associated Salivary Gland Tumors. RNA-Seq was performed on all 5 low-intermediate grade adenocarcinomas NOS with near-identical histologic appearances, as well as 23 low-intermediate grade control adenocarcinoma NOS cases that did not resemble the index cases. All 5 index cases harbored a novel MEF2C-SS18 gene fusion, which was independently confirmed by reverse transcriptase-polymerase chain reaction. The MEF2C-SS18-positive cases arose in the oral cavity (4/5) and parotid Gland (1/5) of 3 women and 2 men ranging from 21 to 80 years (mean: 46) and shared near-identical histologic features: intercalated duct-like cells with eosinophilic to clear cytoplasm and small, uniform oval nuclei, infiltrative microcysts and cords, abundant intraluminal secretions, and cellular fibromyxoid stroma. Mitotic rates were low; necrosis was absent. All MEF2C-SS18-positive Tumors were positive for S100 and p63 and negative for p40, smooth muscle actin, calponin, and mammaglobin. One of the 23 control cases, a parotid Tumor, was found to contain a SS18-ZBTB7A gene fusion; it demonstrated similar, but not identical histologic and immunophenotypic features compared with the MEF2C-SS18 cases. The remaining control cases were negative for SS18 and MEF2C rearrangements. A novel MEF2C-SS18 gene fusion and unique histologic and immunophenotypic features characterize a heretofore undefined low-grade Salivary adenocarcinoma for which we propose the term "microsecretory adenocarcinoma." RNA-Seq helped establish this entity as a distinct Tumor type, and identified one possibly related case with a different SS18-related fusion. The recognition of microsecretory adenocarcinoma and its separation from other adenocarcinomas NOS will facilitate a more complete understanding of the clinical and pathologic characteristics of this previously unrecognized neoplasm.
Roland Giger - One of the best experts on this subject based on the ideXlab platform.
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warthin s Tumor of the larynx a very rare case and systematic review of the literature
Journal of Otolaryngology-head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare.
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Warthin’s Tumor of the larynx: a very rare case and systematic review of the literature
Journal of Otolaryngology - Head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare. Case presentation We report a laryngeal CAL detected in a positron emission tomography/computed tomography (PET/CT) performed for breast cancer follow-up. The Tumor was successfully treated by transoral surgery. Discussion Only 14 cases of laryngeal CAL are reported worldwide. These cases confirmed our experience of an uncomplicated and mostly successful transoral resection. Conclusion CALs of the larynx are very rare. They are characterized by hypermetabolism in PET/CT. The increasing use of PET/CT investigations in cancer patients could give rise to more incidental findings of CALs at unusual locations such as the larynx.
Basile Nicolas Landis - One of the best experts on this subject based on the ideXlab platform.
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warthin s Tumor of the larynx a very rare case and systematic review of the literature
Journal of Otolaryngology-head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare.
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Warthin’s Tumor of the larynx: a very rare case and systematic review of the literature
Journal of Otolaryngology - Head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare. Case presentation We report a laryngeal CAL detected in a positron emission tomography/computed tomography (PET/CT) performed for breast cancer follow-up. The Tumor was successfully treated by transoral surgery. Discussion Only 14 cases of laryngeal CAL are reported worldwide. These cases confirmed our experience of an uncomplicated and mostly successful transoral resection. Conclusion CALs of the larynx are very rare. They are characterized by hypermetabolism in PET/CT. The increasing use of PET/CT investigations in cancer patients could give rise to more incidental findings of CALs at unusual locations such as the larynx.
Lluis Nisa - One of the best experts on this subject based on the ideXlab platform.
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warthin s Tumor of the larynx a very rare case and systematic review of the literature
Journal of Otolaryngology-head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare.
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Warthin’s Tumor of the larynx: a very rare case and systematic review of the literature
Journal of Otolaryngology - Head & Neck Surgery, 2015Co-Authors: Lluis Nisa, Basile Nicolas Landis, Cinzia Salmina, Angeliki Ailianou, Eva Karamitopoulou, Roland GigerAbstract:Background Warthin’s Tumor or cystadenolymphoma (CAL) is a benign Salivary Gland Tumor occurring almost exclusively in the parotid Gland. CALs of other locations are rare. Case presentation We report a laryngeal CAL detected in a positron emission tomography/computed tomography (PET/CT) performed for breast cancer follow-up. The Tumor was successfully treated by transoral surgery. Discussion Only 14 cases of laryngeal CAL are reported worldwide. These cases confirmed our experience of an uncomplicated and mostly successful transoral resection. Conclusion CALs of the larynx are very rare. They are characterized by hypermetabolism in PET/CT. The increasing use of PET/CT investigations in cancer patients could give rise to more incidental findings of CALs at unusual locations such as the larynx.
Ozgur Mete - One of the best experts on this subject based on the ideXlab platform.
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an unusual Salivary Gland Tumor mimicking papillary thyroid carcinoma mammary analog secretory carcinoma
Frontiers in Endocrinology, 2018Co-Authors: Sylvia L Asa, Ozgur MeteAbstract:Thyroid Tumors usually present as masses in the thyroid Gland. While the majority of these Tumors represent neoplasms of thyroid tissues, mainly of follicular epithelial cell differentiation, the differential diagnosis includes other lesions, such as C cell neoplasms (medullary thyroid carcinoma), intrathyroidal parathyroid, or thymic Tumors, soft tissue Tumors, and hematologic neoplasms as well as metastatic malignancies. Rare Tumors are of Salivary Gland types. This case illustrates an unusual Tumor of Salivary Gland type, an intrathyroidal mammary analog secretory carcinoma (MASC). The pathogenesis, diagnostic pitfalls, and therapeutic implications of this unusual Tumor are discussed.
