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Familial Cancer

, Volume 17, Issue 1, pp 87–90 | Cite as

Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing

  • Rachel Silva-Smith
  • Daniel A. SussmanEmail author
Short Communication

Abstract

Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps. To our knowledge, this is the first report of an individual having these two hereditary colorectal cancer syndromes. This discovery highlights the benefit of multigene testing over traditional stepwise genetic testing, particularly when a clinical presentation suggests more than one underlying genetic cause. This report adds to the growing body of literature of individuals with multiple inherited cancer gene defects being identified thanks to the increasing implementation of multigene panels with next generation sequencing technologies.

Keywords

Multigene panel testing PMS2 BMPR1A Lynch syndrome Juvenile polyposis syndrome Multilocus inherited neoplasia alleles syndrome 

Notes

Acknowledgements

We thank the patient for granting permission to publish this information.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. 1.
    Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Bröcker-Vriends AH, Vasen HF, Wijnen JT (2006) Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology 130:312–322CrossRefPubMedGoogle Scholar
  2. 2.
    Yurgelun MB, Allen B, Kaldate RR, Bowles KR, Judkins T, Kaushik P, Roa BB, Wenstrup RJ, Hartman AR, Syngal S (2015) Identification of a variety of mutations in cancer predisposition genes in patients with suspected Lynch syndrome. Gastroenterology 149(604–13):e20. doi: 10.1053/j.gastro.2015.05.006 Google Scholar
  3. 3.
    National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal (Version 1.2017). https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf. Accessed 08 June 2017
  4. 4.
    Senter L, Clendenning M, Sotamaa K, Hampel H, Green J, Potter JD, Lindblom A, Lagerstedt K, Thibodeau SN, Lindor NM, Young J, Winship I, Dowty JG, White DM, Hopper JL, Baglietto L, Jenkins MA, de la Chapelle A (2008) The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. Gastroenterology 135:419–428. doi: 10.1053/j.gastro.2008.04.026 CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Gallego CJ, Shirts BH, Bennette CS, Guzauskas G, Amendola LM, Horike-Pyne M, Hisama FM, Pritchard CC, Grady WM, Burke W, Jarvik GP, Veenstra DL (2015) Next-generation sequencing panels for the diagnosis of colorectal cancer and polyposis syndromes: a cost-effectiveness analysis. J Clin Oncol 33:2084–2091. doi: 10.1200/JCO.2014.59.3665 CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Domchek SM, Bradbury A, Garber JE, Offit K, Robson ME (2013) Multiplex genetic testing for cancer susceptibility: out on the high wire without a net? J Clin Oncol 31:1267–1270. doi: 10.1200/JCO.2012.46.9403 CrossRefPubMedGoogle Scholar
  7. 7.
    Balmaña J, Digiovanni L, Gaddam P, Walsh MF, Joseph V, Stadler ZK, Nathanson KL, Garber JE, Couch FJ, Offit K, Robson ME, Domchek SM (2016) Conflicting interpretation of genetic variants and cancer risk by commercial laboratories as assessed by the prospective registry of multiplex testing. J Clin Oncol 34:4071–4078CrossRefPubMedPubMedCentralGoogle Scholar
  8. 8.
    LaDuca H, Stuenkel AJ, Dolinsky JS, Keiles S, Tandy S, Pesaran T, Chen E, Gau CL, Palmaer E, Shoaepour K, Shah D, Speare V, Gandomi S, Chao E (2014) Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2000 patients. Genet Med 16:830–837. doi: 10.1038/gim.2014.40 CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18:823–832. doi: 10.1038/gim.2015.166 CrossRefPubMedGoogle Scholar
  10. 10.
    Tung N, Battelli C, Allen B, Kaldate R, Bhatnagar S, Bowles K, Timms K, Garber JE, Herold C, Ellisen L, Krejdovsky J, DeLeonardis K, Sedgwick K, Soltis K, Roa B, Wenstrup RJ, Hartman AR (2015) Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Cancer 121:25–33. doi: 10.1002/cncr.29010 CrossRefPubMedGoogle Scholar
  11. 11.
    Walsh T, Casadei S, Lee MK, Pennil CC, Nord AS, Thornton AM, Roeb W, Agnew KJ, Stray SM, Wickramanayake A, Norquist B, Pennington KP, Garcia RL, King MC, Swisher EM (2011) Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. Proc Natl Acad Sci USA 108:18032–18037. doi: 10.1073/pnas.1115052108 CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Whitworth J, Skytte AB, Sunde L, Lim DH, Arends MJ, Happerfield L, Frayling IM, van Minkelen R, Woodward ER, Tischkowitz MD, Maher ER (2016) Multilocus inherited neoplasia alleles syndrome: a case series and review. JAMA Oncol 2:373–379. doi: 10.1001/jamaoncol.2015.4771 CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  1. 1.Division of Clinical and Translational Genetics, Department of Human GeneticsUniversity of Miami, Leonard M. Miller School of MedicineMiamiUSA
  2. 2.Division of Gastroenterology, Department of Internal MedicineUniversity of Miami, Leonard M. Miller School of MedicineMiamiUSA

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