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Updated: Jul 3, 2025

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Next-generation sequencing reveals remarkable genetic stability in primary and corresponding recurrent
Cristina Riobello1, Paula Sánchez-Fernández2, María Camila Cubides Córdoba2
1Department of Head and Neck Cancer, Health Research Institute of the Principality of Asturias, Oviedo, Spain.
Background:
Recurrent intestinal-type sinonasal adenocarcinoma (ITAC) can occur several years after primary treatment and with different histology. We aimed to clarify if such recurrences could be second primary tumors and to identify actionable mutations as targets for personalized treatment of recurrent ITAC.
Methods:
Twelve pairs of primary and recurrent ITAC were histologically examined and analyzed by next-generation sequencing.
Results:
Histological differences between primary and recurrent tumor pairs were observed in five cases. Frequent mutations included TP53, APC, TSC2, ATM, EPHA2, BRCA2, LRP1B, KRAS, and KMT2B. There was 86% concordance of somatic mutations between the tumor pairs, while four cases carried additional mutations in the recurrence.
Conclusions:
We found all cases to be clonal recurrences and not second primary tumors. Moreover, tumor pairs showed a remarkable genomic stability, suggesting that personalized treatment of a recurrence may be based on actionable molecular genetic targets observed in the primary tumor.
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