Congenital Teratocarcinosarcoma With CTNNB1 Gene Mutation Presenting as an Ocular Mass.

Abstract

Teratocarcinosarcoma is an extremely rare malignancy of the nasal cavity and paranasal sinuses. It exhibits both sarcomatous and carcinomatous components. Less than 100 cases are reported. It presents in adults with only two reported cases in infancy. Here we present a case of 3-week-old female with antenatally detected ocular mass. MRI revealed an exophytic right ocular mass (10 × 7.0 × 7.0 cm) with intracranial extension. The tumor consisted of malignant glands and mesenchymal elements of undifferentiated blastema-like cells and immature neuroepithelium. After an initial diagnosis and treatment for a Wilms tumor protocol, the mass showed no response. A second opinion rendered a diagnosis of sinonasal teratocarcinosarcoma. The patient underwent surgical resection and seven cycles of CNS ICE chemotherapy. A second debulking surgery revealed a very scant viable tumor with post-treatment changes. The patient is alive at 43 months on weekly vincristine maintenance. Molecular testing revealed a somatic CTNNB1 gene mutation. In conclusion, this is a rare and aggressive tumor which showed disease free survival beyond that reported in the literature with the appropriate use of multimodality therapy.

• Authors: Saeeda Almarzooqi, Miguel Reyes-Múgica, Bassam R Ali, Aya Habbal, Mohammad J Asha, Eman T AlShamsi
• Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (Pediatr Dev Pathol) 2022 Sep-Oct Vol. 25 Issue 5 Pg. 562-567 ISSN: 1615-5742 [Electronic] United States
• PMID: 35732187 (Publication Type: Case Reports, Journal Article)

Chemical References

• CTNNB1 protein, human
• beta Catenin
• Vincristine

Topics

• Adult
• Carcinosarcoma (diagnosis, genetics, therapy)
• Female
• Humans
• Mutation
• Nasal Cavity (pathology)
• Nose Neoplasms (diagnosis, pathology, surgery)
• Vincristine (therapeutic use)
• beta Catenin (genetics)