Epstein-Barr virus-associated smooth muscle tumor in a girl
SHI Qin, TANG Wen-Fang, HE Xiang-Ling, TIAN Xin
Department of Hematology and Oncology, Children's Medical Center, Hunan Provincial People's Hospital/First Affiliated Hospital of Hunan Normal University, Changsha 410005, China
Abstract A girl, aged 7 years, was admitted due to pain in both lower limbs for more than one year. Lumbar MRI showed soft tissue masses in the paravertebral region. Cerebral MRI showed nodular masses in the cavernous sinus at both sides. Chest CT showed high-density nodules in the outer basal segment of the right inferior lobe and the anterior segment of the left upper lobe of the lung. Biopsy of lumbar lesions showed Epstein-Barr (EB) virus-related smooth muscle tumor. Genetic testing showed a de novo mutation, c.725_730delAGAGTA (p.K242_S243del), in the ITK gene. The masses in the lumbar vertebra were removed by surgery, and then the pain in both lower limbs disappeared. This article reports a case of EB virus-related smooth muscle tumor with a deletion mutation in the ITK gene, which provides experience for the diagnosis and treatment of this disease.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5):405-424. DOI:10.1038/gim.2015.30. PMID:25741868. PMCID:PMC4544753.
[2]
Brown DA, Deep NL, Driscoll CL, et al. Synchronous Epstein-Barr virus-associated skull base and adrenal smooth-muscle tumors in an 8-year-old girl with recent Epstein-Barr virus infection[J]. J Neurosurg Pediatr, 2018, 22(3):283-287. DOI:10.3171/2018.3.PEDS17609. PMID:29905497.
[3]
El Hennawy HM, Habhab W, Almutawa A, et al. Long-term follow-up of post renal transplantation Epstein-Barr virus-associated smooth muscle tumors:report of two cases and review of the literature[J]. Transpl Infect Dis, 2018, 20(2):e12841. DOI:10.1111/tid.12841. PMID:29359839.
[4]
Lau KW, Hsu YW, Lin YT, et al. Role of surgery in treating epstein-barr virus-associated smooth muscle tumor (EBV-SMT) with central nervous system invasion:a systemic review from 1997 to 2019[J]. Cancer Med, 2021, 10(5):1473-1484. DOI:10.1002/cam4.3770. PMID:33576167. PMCID:PMC7940242.
[5]
Jossen J, Chu J, Hotchkiss H, et al. Epstein-Barr virus-associated smooth muscle tumors in children following solid organ transplantation:a review[J]. Pediatr Transplant, 2015, 19(2):235-243. DOI:10.1111/petr.12426. PMID:25572657.
Deyrup AT, Lee VK, Hill CE, et al. Epstein-Barr virus-associated smooth muscle tumors are distinctive mesenchymal tumors reflecting multiple infection events:a clinicopathologic and molecular analysis of 29 tumors from 19 patients[J]. Am J Surg Pathol, 2006, 30(1):75-82. DOI:10.1097/01.pas.0000178088.69394.7b. PMID:16330945.
[8]
Youssefian L, Vahidnezhad H, Yousefi M, et al. Inherited interleukin 2-inducible T-cell (ITK) kinase deficiency in siblings with epidermodysplasia verruciformis and Hodgkin lymphoma[J]. Clin Infect Dis, 2019, 68(11):1938-1941. DOI:10.1093/cid/ciy942. PMID:30778533. PMCID:PMC7317279.
[9]
Purgina B, Rao UN, Miettinen M, et al. AIDS-related EBV-associated smooth muscle tumors:a review of 64 published cases[J]. Patholog Res Int, 2011, 2011:561548. DOI:10.4061/2011/561548. PMID:21437186. PMCID:PMC3062098.
[10]
Soares CD, Carlos R, Molina JPD, et al. Laryngeal Epstein-Barr virus-associated smooth muscle tumor in an undernourished child[J]. Head Neck Pathol, 2019, 13(4):722-726. DOI:10.1007/s12105-018-0960-0. PMID:30120720. PMCID:PMC6854134.
[11]
Kazmi SA, Aizenberg MR, Harper JL, et al. Multifocal histologically malignant Epstein-Barr virus-associated smooth muscle tumor in a pediatric transplant patient with an indolent course[J]. Int J Surg Pathol, 2014, 22(2):186-189. DOI:10.1177/1066896913494793. PMID:23842005.
[12]
Zhou QH, Wu FT, Guo YZ, et al. Epstein-Barr virus associated hepatic smooth muscle tumor in a patient with acquired immunodeficiency syndrome:a case report[J]. Medicine (Baltimore), 2020, 99(18):e19930. DOI:10.1097/MD.0000000000019930. PMID:32358363. PMCID:PMC7440249.
[13]
Toh HC, Teo M, Ong KW, et al. Use of sirolimus for Epstein-Barr virus-positive smooth-muscle tumour[J]. Lancet Oncol, 2006, 7(11):955-957. DOI:10.1016/S1470-2045(06)70943-3. PMID:17081922.
[14]
Schober T, Magg T, Laschinger M, et al. A human immunodeficiency syndrome caused by mutations in CARMIL2[J]. Nat Commun, 2017, 8:14209. DOI:10.1038/ncomms14209. PMID:28112205. PMCID:PMC5473639.
