Journal of Chest Surgery

  • 제52권5호
  • /
  • Pages.376-379
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  • 2019
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  • 2765-1606(pISSN)
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  • 2765-1614(eISSN)
대한심장혈관흉부외과학회 (The Korean Society for Thoracic and Cardiovascular Surgery)
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Novel Association of a Familial TGFBR1 Mutation in Loeys-Dietz Syndrome with Concomitant Hematologic Malignancy

  • Disha, Kushtrim (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Schulz, Solveig (Center of Human Genetics and Anthropology, Jena University Hospital) ;
  • Breuer, Martin (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Owais, Tamer (Department of Cardiac Surgery, Central Hospital Bad Berka) ;
  • Girdauskas, Evaldas (Department of Cardiovascular Surgery, University Heart Center Hamburg) ;
  • Kuntze, Thomas (Department of Cardiac Surgery, Central Hospital Bad Berka)
  • 투고 : 2019.03.12
  • 심사 : 2019.08.28
  • 발행 : 2019.10.05
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초록

Concomitant Loeys-Dietz syndrome (LDS) and hematologic malignancies are exceptionally rare. This is the first report of a patient operated on for aortic root dilation who had been previously diagnosed with LDS and B-cell-lymphoma. After completion of chemotherapy and complete remission, an elective valve-sparing aortic root replacement (using the David-V method) was performed. Due to the positive family history, preoperative genetic counseling was conducted, and revealed LDS with a TGFBR1 (transforming growth factor beta receptor type I) mutation in 6 probands of the family, albeit in 1 of them posthumously. This missense mutation has been previously described in relation to aortic dissection, but a causative relationship to malignancy has so far neither been proposed nor proven.

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참고문헌

  1. Loeys BL, Schwarze U, Holm T, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 2006;355:788-98. https://doi.org/10.1056/NEJMoa055695
  2. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005;37:275-81. https://doi.org/10.1038/ng1511
  3. MacCarrick G, Black JH 3rd, Bowdin S, et al. Loeys-Dietz syndrome: a primer for diagnosis and management. Genet Med 2014;16:576-87. https://doi.org/10.1038/gim.2014.11
  4. Oderich GS, Panneton JM, Bower TC, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005;42:98-106. https://doi.org/10.1016/j.jvs.2005.03.053
  5. Singh KK, Rommel K, Mishra A, et al. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat 2006;27:770-7. https://doi.org/10.1002/humu.20354
  6. Akhurst RJ, Derynck R. TGF-beta signaling in cancer: a double-edged sword. Trends Cell Biol 2001;11:S44-51. https://doi.org/10.1016/S0962-8924(01)02130-4
  7. Bakkebo M, Huse K, Hilden VI, Smeland EB, Oksvold MP. TGF-$\beta$-induced growth inhibition in B-cell lymphoma correlates with Smad1/5 signalling and constitutively active p38 MAPK. BMC Immunol 2010;11:57. https://doi.org/10.1186/1471-2172-11-57
  8. Wang YQ, Qi XW, Wang F, Jiang J, Guo QN. Association between TGFBR1 polymorphisms and cancer risk: a metaanalysis of 35 case-control studies. PLoS One 2012;7:e42899. https://doi.org/10.1371/journal.pone.0042899