Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Orthopedics
Volume 2017 (2017), Article ID 3025084, 4 pages
https://doi.org/10.1155/2017/3025084
Case Report

Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma Developed in a Patient with Progressive Muscular Dystrophy: A Case Report and Review of the Literature

1Department of Orthopedics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima 770-8503, Japan
2Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan
3Department of Orthopedics, National Hospital Organization Tokushima Hospital, Tokushima, Japan

Correspondence should be addressed to Toshihiko Nishisho

Received 20 February 2017; Accepted 13 April 2017; Published 29 May 2017

Academic Editor: Vivek Subbiah

Copyright © 2017 Ryo Miyagi et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. J. N. Walton and F. J. Nattrass, “On the classification, natural history and treatment of the myopathies,” Brain, vol. 77, no. 2, pp. 169–231, 1954. View at Publisher · View at Google Scholar · View at Scopus
  2. J. R. W. Yates and A. E. H. Emery, “A population study of adult onset limb-girdle muscular dystrophy,” Journal of Medical Genetics, vol. 22, no. 4, pp. 250–257, 1985. View at Publisher · View at Google Scholar · View at Scopus
  3. S. H. Laval and K. M. D. Bushby, “Limb-girdle muscular dystrophies—from genetics to molecular pathology,” Neuropathology and Applied Neurobiology, vol. 30, no. 2, pp. 91–105, 2004. View at Publisher · View at Google Scholar · View at Scopus
  4. H. Gundesli, B. Talim, P. Korkusuz et al., “Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy,” American Journal of Human Genetics, vol. 87, no. 6, pp. 834–841, 2010. View at Publisher · View at Google Scholar · View at Scopus
  5. X. Q. Rosales, S. J. Moser, T. Tran et al., “Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I,” Journal of Cardiovascular Magnetic Resonance, vol. 13, no. 39, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. D. Hicks, A. Sarkozy, N. Muelas et al., “A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy,” Brain, vol. 134, no. 1, pp. 171–182, 2011. View at Publisher · View at Google Scholar · View at Scopus
  7. E. P. Hoffman, R. H. Brown Jr., and L. M. Kunkel, “Dystrophin: the protein product of the Duchenne muscular dystrophy locus,” Cell, vol. 51, no. 6, pp. 919–928, 1987. View at Publisher · View at Google Scholar · View at Scopus
  8. R. D. Cohn and K. P. Campbell, “Molecular basis of muscular dystrophies,” Muscle and Nerve, vol. 23, no. 10, pp. 1456–1471, 2000. View at Publisher · View at Google Scholar · View at Scopus
  9. K. Kobayashi, T. Izawa, M. Kuwamura, and J. Yamate, “Comparative gene expression analysis in the skeletal muscles of dysferlin-defcient SJL/J and A/J mice,” Journal of Toxicologic Pathology, vol. 24, no. 1, pp. 49–62, 2011. View at Publisher · View at Google Scholar · View at Scopus
  10. H. Sorimachi, N. Toyama-Sorimachi, T. C. Saido et al., “Muscle-specific calpain, p94, is degraded by autolysis immediately after translation, resulting in disappearance from muscle,” Journal of Biological Chemistry, vol. 268, no. 14, pp. 10593–10605, 1993. View at Google Scholar
  11. I. Richard, O. Broux, V. Allamand et al., “Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A,” Cell, vol. 81, no. 1, pp. 27–40, 1995. View at Publisher · View at Google Scholar · View at Scopus
  12. W. M. Schmidt, M. H. Uddin, S. Dysek et al., “DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies,” PLoS Genetics, vol. 7, no. 4, Article ID e1002042, 2011. View at Publisher · View at Google Scholar · View at Scopus
  13. D. Kissling and F. Michot, “Multiple myeloma occurring in association with a preexisting neuromuscular disease (progressive muscular dystrophy): a chance occurrence or a nosological entity?” Acta Haematologica, vol. 72, no. 2, pp. 94–104, 1984. View at Publisher · View at Google Scholar · View at Scopus
  14. V. Hosur, A. Kavirayani, J. Riefler et al., “Dystrophin and dysferlin double mutant mice: a novel model for rhabdomyosarcoma,” Cancer Genetics, vol. 205, no. 5, pp. 232–241, 2012. View at Publisher · View at Google Scholar · View at Scopus
  15. A. P. Dei Tos, “Liposarcoma: new entities and evolving concepts,” Annals of Diagnostic Pathology, vol. 4, no. 4, pp. 252–266, 2000. View at Publisher · View at Google Scholar · View at Scopus
  16. Y. Yagi, A. Machida, S. Toru et al., “Myotonic dystrophy and lipoma: a new association,” Neurological Sciences, vol. 33, no. 6, pp. 1477-1478, 2012. View at Publisher · View at Google Scholar · View at Scopus
  17. S. M. Gadalla, M. Lund, R. M. Pfeiffer et al., “Cancer risk among patients with myotonic muscular dystrophy,” JAMA, vol. 306, no. 22, pp. 2480–2486, 2011. View at Publisher · View at Google Scholar
  18. A. K. Win, P. G. Perattur, J. S. Pulido, C. M. Pulido, and N. M. Lindor, “Increased cancer risks in myotonic dystrophy,” Mayo Clinic Proceedings, vol. 87, no. 2, pp. 130–135, 2012. View at Publisher · View at Google Scholar · View at Scopus
  19. G.-M. Lin and Y.-H. Li, “Cancer risk among patients with hereditary muscular dystrophies: a population-based study in Taiwan, 1997-2009,” Chinese Journal of Cancer, vol. 33, no. 5, pp. 256–258, 2014. View at Publisher · View at Google Scholar · View at Scopus
  20. A. Fanzani, E. Monti, R. Donato, and G. Sorci, “Muscular dystrophies share pathogenetic mechanisms with muscle sarcomas,” Trends in Molecular Medicine, vol. 19, no. 9, pp. 546–554, 2013. View at Publisher · View at Google Scholar · View at Scopus
  21. Y. Wang, A. Marino-Enriquez, R. R. Bennett et al., “Dystrophin is a tumor suppressor in human cancers with myogenic programs,” Nature Genetics, vol. 46, no. 6, pp. 601–606, 2014. View at Publisher · View at Google Scholar · View at Scopus
  22. H. L. Evans, E. H. Soule, and R. K. Winkelmann, “Atypical lipoma, atypical intramuscular lipoma, and well differentiated retroperitoneal liposarcoma: a reappraisal of 30 cases formerly classified as well differentiated liposarcoma,” Cancer, vol. 43, no. 2, pp. 574–584, 1979. View at Publisher · View at Google Scholar · View at Scopus
  23. M. Brisson, T. Kashima, D. Delaney et al., “MRI characteristics of lipoma and atypical lipomatous tumor/well- differentiated liposarcoma: retrospective comparison with histology and MDM2 gene amplification,” Skeletal Radiology, vol. 42, no. 5, pp. 635–647, 2013. View at Publisher · View at Google Scholar · View at Scopus
  24. K. Thway, R. Flora, C. Shah, D. Olmos, and C. Fisher, “Diagnostic utility of p16, CDK4, and MDM2 as an immunohistochemical panel in distinguishing well-differentiated and dedifferentiated liposarcomas from other adipocytic tumors,” The American Journal of Surgical Pathology, vol. 36, no. 3, pp. 462–469, 2012. View at Publisher · View at Google Scholar · View at Scopus