Accurate assessment of Her-2/neu (erb-b2) status in breast carcinoma is essential for therapy planning. Clinical assays are targeted at protein overexpression (immunohistochemical analysis) or gene amplification (fluorescence in situ hybridization [FISH]). Cases with aberrant FISH signal patterns are problematic and may lead to underreporting of Her-2/neu amplification. We performed FISH with additional chromosome 17 probes, SMS (Smith-Magenis syndrome critical region) and RARA (retinoic acid receptor), on 7 cases with unusual Her-2/CEP17 (chromosome 17 centromere control probe) results to assess whether different measurements of chromosome 17 copy number might clarify the Her-2/neu amplicon status. Although the Her-2/CEP17 ratio scores were within normal range (<2.0), the Her-2/SMS or Her-2/RARA ratio revealed amplification of Her-2/neu in 5 of 7 cases. Immunohistochemical analysis demonstrated Her-2/neu protein overexpression in the same 5 cases only. We describe novel application of SMS/RARA FISH probes for assessing cases with complex Her-2/CEP17 FISH patterns. Such additional data, correlated with immunohistochemical analysis, may help guide therapy in patients with breast carcinoma.
Background:Immunoglobulin G4 (IgG4) related sclerosing disease (rSD) is a new disease entity, first described in 2001, that involves autoimmune pancreatitis. Considered a systemic disease with lesions described in multiple organ systems, IgG4-rSD that affects the sinonasal region is rare. Our goal was to highlight the sinonasal presentation of this unique disease and to review previously reported adult cases from 2003 to 2014.Methods:Case report (a 72-year-old man who presented with left exophthalmos, periorbital pain, and epiphora) and review of the literature.Results:Radiographic workup with computed tomography and magnetic resonance imaging demonstrated a left sinonasal mass that involved the left maxillary and ethmoid sinuses, with surrounding bony destruction and orbital invasion. Nasal endoscopy demonstrated a fibrous lesion emanating in the middle meatus, with surrounding mucosal inflammation. The patient underwent an endoscopic biopsy, medial maxillectomy, and ethmoidectomy with tumor debulking. Pathology demonstrated inflamed respiratory mucosa with dense lymphoplasmacytic infiltrate and fibrosis; flow cytometry demonstrated no malignant cell populations; immunophenotyping demonstrated multiple foci of IgG4 cells. Plasma IgG4 was elevated in the setting of normal total IgG. The patient was treated with postoperative systemic and topical corticosteroids. Surveillance imaging studies and nasal endoscopy demonstrated disease resolution without recurrence.Conclusions:Sinonasal IgG4-rSD is a rare disease that can present with bony and soft-tissue invasion. This was an exceptional case, with osseous involvement and orbital invasion. Immunohistologic workup is essential for diagnosis. It is important to differentiate this disease from sinonasal tumors. Treatment includes corticosteroids and surgical debulking. Sinonasal IgG4-rSD represents an emerging disease that may present challenges for future rhinologists.
Accurate assessment of Her-2/neu (erb-b2) status in breast carcinoma is essential for therapy planning. Clinical assays are targeted at protein overexpression (immunohistochemical analysis) or gene amplification (fluorescence in situ hybridization [FISH]). Cases with aberrant FISH signal patterns are problematic and may lead to underreporting of Her-2/neu amplification. We performed FISH with additional chromosome 17 probes, SMS (Smith-Magenis syndrome critical region) and RARA (retinoic acid receptor), on 7 cases with unusual Her-2/CEP17 (chromosome 17 centromere control probe) results to assess whether different measurements of chromosome 17 copy number might clarify the Her-2/neu amplicon status. Although the Her-2/CEP17 ratio scores were within normal range (<2.0), the Her-2/SMS or Her-2/RARA ratio revealed amplification of Her-2/neu in 5 of 7 cases. Immunohistochemical analysis demonstrated Her-2/neu protein overexpression in the same 5 cases only. We describe novel application of SMS/RARA FISH probes for assessing cases with complex Her-2/CEP17 FISH patterns. Such additional data, correlated with immunohistochemical analysis, may help guide therapy in patients with breast carcinoma.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.