An Unusual Presentation of a Cervical Paraspinal Leiomyoma in an Adolescent Female

作者：Swarz Jeffrey A; Anilkumar Arayamparambil C; Miller Douglas C; Litofsky N Scott; Tanaka Tomoko^*

来源：Pediatric and Developmental Pathology, 2018, 21(3): 335-340.

DOI：10.1177/1093526617706815

• leiomyoma
• cervical spine
• Li-Fraumeni Syndrome
• hereditary leiomyomatosis and renal cell cancer

Objective: We describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management.
Methods: A 14-year-old girl was referred to the neurology clinic for an abnormal head CT following a concussion. MRI revealed a homogenously enhancing left cervical paraspinal mass. The patient underwent complete resection and subsequent genetic testing and counseling were obtained to determine the presence of Li-Fraumeni Syndrome (LFS) or Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) mutations.
Result: Histopathological examination proved that the tumor was a benign leiomyoma. Genomic testing for Fumarate Hydratase Gene, HLRCC, TP53 mutations or deletions, and LFS sequencing were negative. Further testing showed no immunosuppression.
Conclusions: To the best of our knowledge, this is the only case of paraspinal leiomyoma to have been reported to date. We emphasize the importance of considering immunosuppression, LFS, or HLRCC as an underlying cause in extra-uterine leiomyata.

• 出版日期2018-6