LABORATORY INVESTIGATION THE BASIC AND TRANSLATIONAL PATHOLOGY RESEARCH JOURNAL LI VOLUME 98 | SUPPLEMENT 1 | MARCH 2018 2018 ABSTRACTS HEAD AND NECK PATHOLOGY (1317-1386) 107TH ANNUAL MEETING GEARED TO LEARN Vancouver Convention Centre MARCH 17-23, 2018 Vancouver, BC, Canada PLATFORM & 2018 ABSTRACTS POSTER PRESENTATIONS EDUCATION COMMITTEE Jason L. Hornick, Chair Amy Chadburn Rhonda Yantiss, Chair, Abstract Review Board Ashley M. Cimino-Mathews and Assignment Committee James R. Cook Laura W. Lamps, Chair, CME Subcommittee Carol F. Farver Steven D. Billings, Chair, Interactive Microscopy Meera R. Hameed Shree G. Sharma, Chair, Informatics Subcommittee Michelle S. Hirsch Raja R. Seethala, Short Course Coordinator Anna Marie Mulligan Ilan Weinreb, Chair, Subcommittee for Rish Pai Unique Live Course Offerings Vinita Parkash David B. Kaminsky, Executive Vice President Anil Parwani (Ex-Officio) Deepa Patil Aleodor (Doru) Andea Lakshmi Priya Kunju Zubair Baloch John D. Reith Olca Basturk Raja R. Seethala Gregory R. Bean, Pathologist-in-Training Kwun Wah Wen, Pathologist-in-Training Daniel J. Brat ABSTRACT REVIEW BOARD Narasimhan Agaram Mamta Gupta David Meredith Souzan Sanati Christina Arnold Omar Habeeb Dylan Miller Sandro Santagata Dan Berney Marc Halushka Roberto Miranda Anjali Saqi Ritu Bhalla Krisztina Hanley Elizabeth Morgan Frank Schneider Parul Bhargava Douglas Hartman Juan-Miguel Mosquera Michael Seidman Justin Bishop Yael Heher Atis Muehlenbachs Shree Sharma Jennifer Black Walter Henricks Raouf Nakhleh Jeanne Shen Thomas Brenn John Higgins Ericka Olgaard Steven Shen Fadi Brimo Jason Hornick Horatiu Olteanu Jiaqi Shi Natalia Buza Mojgan Hosseini Kay Park Wun-Ju Shieh Yingbei Chen David Hwang Rajiv Patel Konstantin Shilo Benjamin Chen Michael Idowu Yan Peng Steven Smith Rebecca Chernock Peter Illei David Pisapia Lauren Smith Andres Chiesa-Vottero Kristin Jensen Jenny Pogoriler Aliyah Sohani James Conner Vickie Jo Alexi Polydorides Heather Stevenson-Lerner Claudiu Cotta Kirk Jones Sonam Prakash Khin Thway Tim D’Alfonso Chia-Sui Kao Manju Prasad Evi Vakiani Leona Doyle Ashraf Khan Bobbi Pritt Sonal Varma Daniel Dye Michael Kluk Peter Pytel Marina Vivero Andrew Evans Kristine Konopka Charles Quick Yihong Wang Alton Farris Gregor Krings Joseph Rabban Christopher Weber Dennis Firchau Asangi Kumarapeli Raga Ramachandran Olga Weinberg Ann Folkins Frank Kuo Preetha Ramalingam Astrid Weins Karen Fritchie Alvaro Laga Priya Rao Maria Westerhoff Karuna Garg Robin LeGallo Vijaya Reddy Sean Williamson James Gill Melinda Lerwill Robyn Reed Laura Wood Anthony Gill Rebecca Levy Michelle Reid Wei Xin Ryan Gill Zaibo Li Natasha Rekhtman Mina Xu Tamara Giorgadze Yen-Chun Liu Michael Rivera Rhonda Yantiss Raul Gonzalez Tamara Lotan Mike Roh Akihiko Yoshida Anuradha Gopalan Joe Maleszewski Marianna Ruzinova Xuefeng Zhang Jennifer Gordetsky Adrian Marino-Enriquez Peter Sadow Debra Zynger Ilyssa Gordon Jonathan Marotti Safia Salaria Alejandro Gru Jerri McLemore Steven Salvatore To cite abstracts in this publication, please use the following format: Author A, Author B, Author C, et al. Abstract title (abs#). Laboratory Investigation 2018; 98 (suppl 1): page# Conclusions: The result of this study confirms that neural tumors HEAD AND NECK PATHOLOGY are rare in the head and neck mucosal region. Awareness of SNPs is important, as they are unique small subgemmal structures that are associated with taste buds and ganglion cells and usually found in 1317 Subgemmal Neurogenous Plaque: A Clinical and tongue biopsies that show distinctive biphasic pattern, with superficial Pathologic Review neurofibroma like plaques and deeper neuroma like areas. Caution should be exercised before calling lesions as ganglioneuromas, Hussein Alnajar1, Thomas R O’Toole2, Diana M Lin3, Vijaya Reddy4, neurofibromas, mucosal neuromas, or traumatic neuromas especially Pincas Bitterman4, Leonidas Arvanitis4, Ritu Ghai4, Samer Al- in the lack a proper clinical setting to avoid unnecessary clinical Khudari5, Paolo Gattuso6. 1Rush University Medical Center, Chicago, investigations. IL, 2University of Kansas Medical Center, 3University of Illinois at Chicago, Chicago, IL, 4Rush University Medical Center, Chicago, IL, 5Rush University Medical Center, 6Burr Ridge, IL 1318 Recurrent MSANTD3 Aberrations Defines a Subset Background: In humans, subgemmal neurogenous plaque (SNP) of Acinic Cell Carcinomas of the Salivary Gland is a well described structure normally found in association with the Simon Andreasen1, Sushama Varma2, Linea C Melchior3, Tina K taste buds as subepithelial aggregates of ganglion cells and nerve Agander3, Katalin Kiss4, Irene Wessel3, Preben Homøe5, Justin Bishop6, plexus. They are usually asymptomatic, but occasionally they may Jonathan Pollack2, Robert West7. 1Rigshospitalet, Copenhagen, be associated with an erythematous area, ulcer, white patch or a 2Stanford University School of Medicine, 3Rigshospitalet, Copenhagen hyperplastic papule which may warrant a biopsy. The aim of this University Hospital, 4Copenhagen University Hospital, Copenhagen, study is to look at the nature of neural neoplasms in the head and neck 5Zealand University Hospital, 6UT Southwestern Medical Center, mucosal region and to correctly recognize SNP to potentially avoid Dallas, TX, 7Stanford University, Stanford, CA misdiagnosis and unnecessary treatment. Background: A growing number of salivary gland tumors are Design: From 3/2000 to 6/2017 the surgical pathology archives were characterized by recurrent chromosomal rearrangements resulting in reviewed for head and neck mucosal neural lesions. The pathologic promoter swapping or generation of fusion genes, which has resulted and clinical data were reviewed in details. in improved molecular taxonomy, diagnostic accuracy, and new Results: A total of 26 cases were identified, 9 neuromas, 9 venues for targeted therapies. However, no genetic characteristics neurofibromas, 2 ganglioneuromas and 6 cases with hyperplastic have been identified in acinic cell carcinoma (AciCC), which is among subepithelial nerve bundle. the remaining genetic orphans among salivary gland carcinomas. Here, we report the finding of recurrent MSANTD3 aberrations in a After reviewing the histologic material the 26 lesions were re-classified subset of AciCC. as follows: traumatic neuroma 3 cases and neurofibroma in 3 cases. The remaining 20 cases were reclassified as SNP. Design: Whole-transcriptome sequencing of an index AciCC identified a HTN3-MSANTD3 gene fusion. An expanded series of salivary gland In patients with the original diagnosis of neurofibroma (9 cases) and AciCC (n= 126, 3 with dedifferentiation) was collected and subjected ganglioneuroma (2 cases) a full clinical investigation was done for to FISH using custom dual-color break-apart probes for the MSANTD3 neurofibromatosis or other multiple endocrine neoplasias. None of gene. All rearranged cases were subjected to a histochemical these patients had any clinical syndromes. (PAS+D) and immunohistochemical (amylase, CK7, DOG-1, ki-67, The 20 cases of SNP were 15 women and 5 men with a median age mammaglobin, S-100) panel. The same panel was applied to 10 non- of 60 years (range 30-85 years). The location of SNP cases was as rearranged AciCC for comparison. follows: 10 cases oral tongue (50%), 8 cases base of tongue (40%), 1 Results: A total of six AciCCs showed rearrangement and one case case each lip and tonsillar fossa (5%). The mean greatest dimension of showed amplification of the MSANTD3 gene 7/126, 5.6%) (Fig. 1). SNPs was 2.0 mm (1-3 mm in diameter). Most of them were subjacent Histologically, tumors were lobulated and showed varied growth to taste buds (13 cases). patterns including solid, microcystic, follicular (Fig. 2). In all cases, The clinical data was available in 19 cases; most common presenting PAS-positive diastase-resistant granules were abundant in the complaints were: painless lesion in 8 patients, mouth or throat pain in neoplastic cells. Immunohistochemically, all cases were positive 5, otalgia in 2, odynophagia in 2, and weight loss in 2. for CK7 in the non-acinar cells, and intense membranous DOG-1 positivity was observed in the acinar cells. Mammaglobin and S-100 were consistently negative. Ki-67 was low, ranging from 1-7%. The Smoking Original Size Gangli- Taste Chronic Case Gender Age status Location Histologic (mm) on cells Buds inflamma- immunohistochemical profile of the 10 non-rearranged AciCCs was diagnosis tion identical. Clinical information was available from 4 patients with oral 1 F 63 unknown tongue neuroma 3 no yes no MSANTD3 aberrations and included 2 males and 2 females of which 3 tumors arose in the parotid and 1 in the submandibular gland. Three base of 2 F 35 no tongue neuroma 2 yes no yes patients remained free of disease during follow-up (46-256 months) current base of whereas the case with MSANTD3 amplification developed pulmonary 3 M 50 daily tongue neurofibroma 2 no yes no metastases after 6 years. oral 4 F 62 no tongue neurofibroma 2 no yes yes current 5 F 38 some oral ganglioneu- 1 yes no no day tongue roma oral 6 F 46 no tongue neuroma 1 no no yes current 7 F 53 daily glottis neuroma 3 no yes yes oral 8 M 41 no tongue neurofibroma 2 yes yes yes current base of ganglioneu- 9 F 74 daily tongue roma 2 yes yes yes oral 10 M 66 no tongue neurofibroma 2 no yes yes tonsillar 11 F 76 former fossa neuroma 1 no no no base of 12 M 85 no tongue neuroma 3 yes no no base of subepithelial 13 F 69 former tongue nerve plexus 3 yes yes yes base of 14 F 57 former tongue neurofibroma 2 no yes no reactive 15 F 43 current base of gangiloneural 1 yes no no daily tongue proliferation oral 16 F 56 no tongue neurofibroma 2 no yes yes submucosal base of edema and pe- 17 M 73 no tongue ripheral nerve 3 no no no bundles peripheral current oral nerve bundle 18 F 66 daily tongue and ganglion 1 yes yes yes cells oral peripheral 19 F 30 no tongue nerve bundle 1 yes yes yes oral peripheral 20 F 62 former tongue nerve bundle 1 yes yes no Conclusions: salivary gland. The oncogenic property of MSANTD3 is unclear but is supported by the fulminant course case with selective MSANTD3 gain.