Case reports in oncology · 2025
Aggressive Craniospinal Recurrence of a PTEN-Mutated Sinonasal Teratocarcinosarcoma: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Al Hourani Abdel Mun'Em S, Ahn Peter H, Tagouri Yahia M, Deklotz Timothy, Rajput Jai Singh, Madan Ankit
Аннотация
INTRODUCTION: Sinonasal teratocarcinosarcoma (SNTCS) is an aggressive and highly recurrent tumor with a predilection for anterior skull base location. It continues to pose a challenge due to difficulty in diagnosis and the lack of large-scale studies on optimal treatment strategies.
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 × 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 SNTCS. She received concurrent chemoradiotherapy. Next-generation sequencing showed mutations in the PTEN, SMARCA4, and CCND1 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 a documented PTEN mutation. In the absence of evidence-based guidelines due to the rarity of this diagnosis, we have reviewed over 50 cases reported in the 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, chemotherapy regimens, prognosis, and common genetic mutations found in SNTCS.
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 × 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 SNTCS. She received concurrent chemoradiotherapy. Next-generation sequencing showed mutations in the PTEN, SMARCA4, and CCND1 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 a documented PTEN mutation. In the absence of evidence-based guidelines due to the rarity of this diagnosis, we have reviewed over 50 cases reported in the 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, chemotherapy regimens, prognosis, and common genetic mutations found in SNTCS.