Supplementary Material for: Aggressive Craniospinal Recurrence of a PTEN-Mutated Sinonasal Teratocarcinosarcoma: A Case Report.

Introduction: Sinonasal teratocarcinoma (SNTCS) is an aggressive and highly recurrent tumor of the sinonasal tract. It continues to pose a challenge due to difficulty in diagnosis and the lack of large-scale studies on optimal - treatment strategy.

Case presentation: We report a case of a 48-year-old female patient who presented with headache, nausea, and vomiting. Initial imaging revealed a 6.4 x 4.5 cm extra-axial mass in the right frontal region, originating from the superior right nasal cavity. She underwent surgical resection of the tumor and was found to have Sinonasal Teratocarcinosarcoma. She received concurrent chemoradiotherapy. Next-generation sequencing showed mutations in PTEN and SMARCA4 genes. Six months after completion of treatment, she experienced an aggressive leptomeningeal recurrence of her disease. To our knowledge, our case represents the first SNTCS case with documented PTEN mutation. In absence of evidence-based guidelines due to rarity of this diagnosis, we have reviewed over 50 cases reported in literature.

Conclusion: SNTCS remains challenging to treat, as despite using surgical resection and concurrent chemoradiotherapy, it continues to have a high recurrence and mortality rate. We further discuss various demographics, various chemotherapy regimens used, prognosis, and common genetic mutations found in SNTCS.