Nasal Sinus Leiomyosarcoma in a Patient with History of Non-Hereditary Unilateral Treated Retinoblastoma

Abstract

Hereditary patients with a history of treated retinoblastoma (RB) have a greatly increased risk of a broad spectrum of secondary malignancies appearing many years later, with a high incidence in the head and neck region. Leiomyosarcomas (LMS) account for up to 58% of these tumors. LMS in the sinonasal region generally are uncommon and are associated with a locally aggressive course and have a poor prognosis. RB may occur in two forms. The hereditary form is generally bilateral but can present unilaterally with a positive family history and typically exhibits a germline mutation in the RB1 gene on chromosome 13. The non-hereditary form is usually unilateral but can show the same germline mutation in up to 10% of cases. Patients with hereditary RB have been shown to have a significantly higher cumulative risk of developing secondary malignancies than those with the non-hereditary form (28 vs. 1.44% respectively). Most reported cases of sinonasal LMS are in patients with a history of the bilateral hereditary form of treated RB. We report a case of LMS of the nasal sinus area in a 35-yearold African American male with a history of non-hereditary unilateral RB and radiation therapy. To the best of our knowledge, this is the first reported case of sinonasal LMS arising in a patient with a history of non-hereditary unilateral RB. The clinical history, radiology, and pathology are presented along with a brief discussion of the literature.

Soft Tissue Tumors of the Head and Neck: Imaging-based Review of the WHO Classification

“…Arrowheads = flow voids. appearance, with regions of hemorrhage, necrosis, and cystic change(4,63,65).…”

Leiomiosarcoma primario de cornete nasal inferior. Reporte de caso clínico y revisión de la literatura

“…Se ha visto que personas con antecedentes de retinoblastoma hereditario presentan tasas más altas de neoplasias secundarias en relación a lo esperable para la población general; entre éstas destacan los osteosarcomas y sarcomas de tejidos blandos y dentro de estos últimos, se ha evaluado un riesgo elevado para desarrollar leiomiosarcoma 12,13 . Algunos autores proponen que, en pacientes con historia de retinoblastoma hereditario, de los tumores secundarios, el 58% corresponde a leiomiosarcomas 12 .…”

Sinonasal adenocarcinoma: A rare second malignancy in long term retinoblastoma survivors

“…Although an increased risk for sinonasal cancers has been reported following radiotherapy for retinoblastoma in a large series of Rb survivors (10), the histology of these tumors was not provided. Additionally, there have been individual case reports of leiomyosarcoma 14 and neuroendocrine sinonasal tumors following radiation for retinoblastoma 15. However, adenocarcinoma of the sinonasal cavity has not been previously reported.…”