Abstract
A 72-year-old Caucasian man presenting with non-specific upper abdominal pain had asymmetric soft tissue thickening of the small bowel wall on computed tomography (CT), which was pathologically proven to be leiomyosarcoma (LMS). At the same time point patient had incidentally but retrospectively detected lesion in IVC on CT scan which was subsequently imaged with PET/CT and MRI and was histologically proven to be also LMS. We present clinical and imaging features along with pedigree of this unique case of synchronous primary LMS involving the small bowel and inferior vena cava in a patient with RB1 gene mutation and a significant family history of multiple malignancies. To our knowledge, the synchronous primary LMS at two different sites has not been described. Clinicians and radiologists should keep in mind the possibility of a synchronous primary LMS in patients with genetic predisposition before making the diagnosis of a metastatic lesion or other malignancy as localized primary tumors remain potentially curable, whereas metastatic sarcoma is most often incurable.
References
O’Sullivan PJ, Harris AC, Munk PL (2008) Radiological imaging features of non-uterine leiomyosarcoma. Br J Radiol. 81:73–81
Tilkorn DJ, Hauser J, Ring A, et al. (2010) Leiomyosarcoma of intravascular origin–a rare tumor entity: clinical pathological study of twelve cases. World J Surg Oncol. 22:103
Francis JH, Kleinerman RA, Seddon JM, et al. (2012) Increased risk of secondary uterine leiomyosarcoma in hereditary retinoblastoma. Gynecol Oncol. 124:254–259
Classon M, Harlow E (2002) The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer. 2:910–917
Kilciksiz S, Gokce T, Baloglu A, et al. (2007) Characteristics of synchronous-and metachronous-type multiple primary neoplasms: a study of hospital-based cancer registry. Clin Genitourin Cancer. 5:438–445
Chen HK, Huang HY, Li CF, et al. (2009) Synchronous presentation of uterine leiomyosarcoma and retroperitoneal liposarcoma: analysis by comparative genomic hybridization and review of the literature. Int J Gynecol Pathol. 28:535–540
Mu D, Wang D, Zhou K, et al. (2011) Radiographic features of intraluminal leiomyosarcoma of the inferior vena cava: an atypical case report. Abdom Imaging. 36:586–589
Ulla M, Kohan A, Pekolj J, et al. (2011) Direct 64-row MDCT venography in the diagnosis of an inferior vena cava leiomyosarcoma. Abdom Imaging. 36:333–336
Ganeshalingam S, Rajeswaran G, Jones RL, et al. (2011) Leiomyosarcomas of the inferior vena cava: diagnostic features on cross-sectional imaging. Clin Radiol. 66:50–56
Huang J, Liu Q, Lu JP, et al. (2011) Primary intraluminal leiomyosarcoma of the inferior vena cava: value of MRI with contrast-enhanced MR venography in diagnosis and treatment. Abdom Imaging. 36:337–341
Kitajima K, Murakami K, Kaji Y, et al. (2010) Spectrum of FDG PET/CT findings of uterine tumors. AJR Am J Roentgenol. 195:737–743
Betts MT, Huo EJ, Miller FH (2003) Gastrointestinal and genitourinary smooth-muscle tumors. AJR Am J Roentgenol. 181:1349–1354
Munene G, Mack LA, Moore RD, et al. (2011) Neoadjuvant radiotherapy and reconstruction using autologous vein graft for the treatment of inferior vena cava leiomyosarcoma. J Surg Oncol. 103:175–178
Ito H, Hornick JL, Bertagnolli MM, et al. (2007) Leiomyosarcoma of the inferior vena cava: survival after aggressive management. Ann Surg Oncol. 14:3534–3541
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Saboo, S.S., Ramaiya, N., Jacene, H. et al. Synchronous small bowel and atypical primary leiomyosarcoma of inferior vena cava in a patient with RB1 mutation. Abdom Imaging 39, 33–39 (2014). https://doi.org/10.1007/s00261-012-9904-4
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00261-012-9904-4