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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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CME Disclosure Statement: Unless noted, all individuals in control of content reported no relevant financial relationships. If applicable, all relevant financial relationships have been mitigated.
Corresponding Author: Aaron Thatcher, MD, Department of Otolaryngology-Head & Neck Surgery, University of Michigan, 1540 E Hospital Dr, SPC 4241, Ann Arbor, MI 48109 (email@example.com).
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.
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