Sage Journals: Discover world-class research

Abstract

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.

Keywords

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

Get full access to this article

View all access options for this article.

References

Stewart

. Uterine fibroids. Lancet 2001; 357(9252): 293–298.

Choi

Levy

Krieger

McComb

. Spinal extradural leiomyoma in a pediatric patient with acquired immunodeficiency syndrome: case report. Neurosurgery 1997; 40(5): 1080–1082.

Litofsky

Pihan

Corvi

Smith

. Intracranial leiomyosarcoma: a neuro-oncological consequence of acquired immunodeficiency syndrome. J Neurooncol 1998; 40(2): 179–183.

Aksoy

Altundag

Durusu

et al.

Thoracic paravertebral leiomyosarcoma: rare but it does occur. Spine 2002; 27(12): 301–303.

Kransdorf

. Benign soft-tissue tumors in a large referral population: distribution of specific diagnoses by age, sex, and location. AJR 1995; 164(2): 395–402.

Malhotra

Walia

Singh

Ramesh

. Leiomyoma cutis: a clinicopathological series of 37 cases. Indian J Dermatol 2010; 55(4): 337–341.

Carney

. Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors. J Clin Endocrinol Metab 2009; 10: 3656–3662.

Arishima

Takeuchi

Kitai

Yamauchi

Kikuta

. Vascular leiomyoma of the scalp with a small deformity on the skull mimicking a dermoid cyst. Pediatr Dermatol 2013; 30(3): 27–29.

Park

Shin

Yoon

Kim

. Surgical Management of Paraspinal Tumors. Kor J Spine 2007; 4(3): 134–139.

10.

Spitzer

Ceraldi

Wang

Granelli

. Anatomic classification system for surgical management of paraspinal tumors. Arch Surg 2004; 139(3): 262–269.

11.

Tomlinson

Alam

Rowan

et al.

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet 2002; 30(4): 406–410.

12.

Ylisaukko-oja

Kiuru

Lehtonen

et al.

Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. Int J Cancer 2006; 119(2): 283–287.

13.

Makinen

Mehine

Tolvanen

et al.

MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science 2011; 334(6053): 252–255.

14.

Peng

Laser

Shi

et al.

Antiproliferative effects by Let-7 repression of high-mobility group A2 in uterine leiomyoma. Mol Cancer Res 2008; 6(4): 663–673.

15.

Kazarin

Vlodavsky

Guralnik

Kremer

Lachter

Bar-Sela

. Association between esophageal leiomyomatosis and p53 mutation. Ann Thorac Surg 2013; 95(4): 1429–1431.

16.

Varley

. Germline TP53 mutations and Li-Fraumeni syndrome. Hum Mutat 2003; 21(3): 313–320.

17.

Alam

Rowan

Wortham

et al.

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet 2003; 12(11): 1241–1252.

18.

Anker

Arnemann

Neumann

et al.

Alport syndrome with diffuse leiomyomatosis. Am J Med Genet 2003; 119A(3): 381–385.

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

Abstract

Objective

Methods

Result

Conclusions

Keywords

Get full access to this article

References