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

An Unusual Presentation of a Cervical Paraspinal Leiomyoma in an Adolescent Female ObjectiveWe describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management.MethodsA 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.ResultHistopathological 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.ConclusionsTo 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Pediatric and Developmental Pathology SAGE

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

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Publisher
SAGE
Copyright
© 2017, Society for Pediatric Pathology All rights reserved
ISSN
1093-5266
eISSN
1615-5742
D.O.I.
10.1177/1093526617706815
Publisher site
See Article on Publisher Site

Abstract

ObjectiveWe describe an apparently unique case of an extra-uterine leiomyoma in the cervical paraspinal tissue including its evaluation and management.MethodsA 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.ResultHistopathological 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.ConclusionsTo 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.

Journal

Pediatric and Developmental PathologySAGE

Published: May 1, 2018

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