Browsing by Author "Afrogheh, Amir H."

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    Adenomatoid odontogenic tumour in the anterior mandible: a case report
    (Wiley-Blackwell, 2020) Walters, J.; Shaik, Shoayeb; Afrogheh, Amir H.
    Adenomatoid odontogenic tumours are hamartomatous lesions that rarely deviate from their well-recognised radiological features. However, increasing numbers with atypical radiological features have been reported in recent years. This study reports on a large extrafollicular lesion in the anterior mandible with uncommon radiological features in a 17-year-old female. Treatment included enucleation with a histopathological confirmation. Healing was uneventful.
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    Advanced tumour-induced osteomalacia secondary to sinonasal phosphaturic mesenchymal tumour
    (AOSIS (pty) Ltd, 2024) van Wijk, Monica; Opperman, Johan F.; Afrogheh, Amir H.
    Phosphaturic mesenchymal tumours (PMT) are rare, benign lesions and the most common tumour to cause tumour-induced osteomalacia (TIO), a paraneoplastic syndrome. Patients frequently exhibit severe osteomalacia, accompanied by multiple fractures, which significantly impair their quality of life. Complete surgical resection is curative. Contribution: A rare case of sinonasal PMT is presented, with a focus on the imaging findings and role of the radiologist and nuclear physician.
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    Diffuse staining for activated NOTCH1 correlates with NOTCH1 mutation status and is associated with worse outcome in adenoid cystic carcinoma
    (Lippincott, Williams & Wilkins, 2017) Sajed, Dipti P.; Faquin, William C.; Carey, Chris; Severson, Eric A.; Afrogheh, Amir H.; Johnson, Carl A.; Blacklow, Stephen C.; Chau, Nicole G.; Lin, Derrick T.; Krane, Jeffrey F.; Jo, Vickie Y.; Garcia, Joaquín J.; Sholl, Lynette M.; Aster, Jon C.
    NOTCH1 is frequently mutated in adenoid cystic carcinoma (ACC). To test the idea that immunohistochemical (IHC) staining can identify ACCs with NOTCH1 mutations, we performed IHC for activated NOTCH1 (NICD1) in 197 cases diagnosed as ACC from 173 patients. NICD1 staining was positive in 194 cases (98%) in 2 major patterns: subset positivity, which correlated with tubular/cribriform histology; and diffuse positivity, which correlated with a solid histology. To determine the relationship between NICD1 staining and NOTCH1 mutational status, targeted exome sequencing data were obtained on 14 diffusely NICD1-positive ACC specimens from 11 patients and 15 subset NICD1-positive ACC specimens from 15 patients. This revealed NOTCH1 gain-of-function mutations in 11 of 14 diffusely NICD1-positive ACC specimens, whereas all subset positive tumors had wild-type NOTCH1 alleles. Notably, tumors with diffuse NICD1 positivity were associated with significantly worse outcomes (P = 0.003). To determine whether NOTCH1 activation is unique among tumors included in the differential diagnosis with ACC, we performed NICD1 IHC on a cohort of diverse salivary gland and head and neck tumors. High fractions of each of these tumor types were positive for NICD1 in a subset of cells, particularly in basaloid squamous cell carcinomas; however, sequencing of basaloid squamous cell carcinomas failed to identify NOTCH1 mutations. These findings indicate that diffuse NICD1 positivity in ACC correlates with solid growth pattern, the presence of NOTCH1 gain of function mutations, and unfavorable outcome, and suggest that staining for NICD1 can be helpful in distinguishing ACC with solid growth patterns from other salivary gland and head and neck tumors.
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    PD-L1 and PD-L2 expression levels are low in primary and secondary adenoid cystic carcinomas of the orbit: Therapeutic implications
    (Wolters Kluwer Health, 2020) Afrogheh, Amir H.; Wolkow, Natalie; Jakobiec, Frederick Albert
    To determine if there is a biologic rationale for using checkpoint inhibitor drugs targeting programmed cell death ligand 1 (PD-L1) and PD-L2 in the treatment of adenoid cystic carcinoma of the orbit. Methods: Twenty-three cases of adenoid cystic carcinoma involving the orbit (13 primary lacrimal gland, 5 secondarily extending into the orbit, and 5 unspecified) were examined histopathologically. Immunohistochemistry for PD-L1, PD-L2, and CD8 was performed. Charts were reviewed for clinical correlations. Results: Expression of PD-L1 and of PD-L2 was overall low in adenoid cystic carcinoma (mean expression 1.4 ± 0.9 of 5 for PD-L1, mean 0.83 ± 1.1 of 5 for PD-L2), and tumor-infiltrating CD8-positive T-lymphocytes were sparse (mean 1.1 ± 0.51 of 3). Only 13 of the 23 (57%) cases expressed PD-L1 as a combined positive score ≥1 of cells. No associations were found between expression levels of these markers and patient sex, tumor site of origin, Tumor, Node, Metastasis stage, or patient outcome.