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Salivary Gland Disorders

Newborn With Unilateral Exophthalmos and Rapidly Growing Parotid Mass

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.

1 Credit CME

JAMA Otolaryngology–Head & Neck Surgery

Published Online: October 29, 2020

Clinical Challenge

Article Information and Disclosures

Kevin Schneider, MA¹;

Nicole Mott, BS¹;

Aaron Thatcher, MD¹

Author Affiliations

¹Department of Otolaryngology–Head and Neck Surgery, University of Michigan Medical School, Ann Arbor

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A male newborn was noted to have right eye and right cheek masses at birth. His prenatal course was complicated by maternal drug use, hepatitis C, and lack of routine prenatal care. Intraocular pressure of the right eye was elevated to 31 mm Hg (normal pressure, <20 mm Hg). Parotid ultrasonography demonstrated a lobulated solid vascular mass measuring 2.1 cm. The infant was referred to the ophthalmology and otolaryngology service. At the age of 5 weeks, a swollen right eye with a foggy cornea and conjunctival vascular anomaly were noted. A soft, mobile, right parotid mass had doubled in size.

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C. Atypical teratoid/rhabdoid tumor

The presentation is consistent with atypical teratoid/rhabdoid tumor (AT/RT). Further characterization of the parotid biopsy specimen showed large undifferentiated cells with a high nuclear to cytoplasmic ratio and nuclear molding. Staining for protein gene product 9.5 and vimentin was positive, with faint positivity for neuroectodermal tumor markers and complete loss of INI-1 (Figure 2). Genetic sequencing demonstrated a SMARCB1/INI-1 (GenBank AP000349.1) sequence variation.

This case is unique, as AT/RT more commonly presents as a central nervous system (CNS) malignancy and rarely as an infratentorial or spinal lesion.¹ Moreover, the infant presented with 2 masses that were either metastatic disease or 2 synchronous tumors at birth. Rhabdoid tumors are also known to occur synchronously in 2 or more locations in patients with germline SMARCB1 alteration.² AT/RT can be misdiagnosed owing to staining features that are indistinguishable from those of other neuroectodermal tumors.

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Article Information

Corresponding Author: Aaron Thatcher, MD, Department of Otolaryngology-Head & Neck Surgery, University of Michigan, 1540 E Hospital Dr, SPC 4241, Ann Arbor, MI 48109 (aarlthat@med.umich.edu).

Published Online: October 29, 2020. doi:10.1001/jamaoto.2020.3763

Conflict of Interest Disclosures: None reported.

Additional Contributions: We thank the patient’s parent for granting permission to publish this information. We thank Hakan Dimirci, MD (W.K. Kellogg Eye Center), Rama Rao, MBBS (Division of Pediatric Hematology and Oncology), and John Kim, MD (Department of Radiology) (all at Michigan Medicine, University of Michigan), for their input on the case and their attentive care for this patient. They were not financially compensated.

References

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Chi SN , Zimmerman MA , Yao X , et al. Intensive multimodality treatment for children with newly diagnosed CNS atypical teratoid rhabdoid tumor. J Clin Oncol. 2009;27(3):385-389. doi:10.1200/JCO.2008.18.7724 PubMed Google Scholar Crossref

Hilden JM , Meerbaum S , Burger P , et al. Central nervous system atypical teratoid/rhabdoid tumor. J Clin Oncol. 2004;22(14):2877-2884. doi:10.1200/JCO.2004.07.073 Google Scholar Crossref

Ostrom QT , Chen Y , M de Blank P , et al. The descriptive epidemiology of atypical teratoid/rhabdoid tumors in the United States, 2001-2010. Neuro Oncol. 2014;16(10):1392-1399. doi:10.1093/neuonc/nou090 PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.