Advertisement

Familial Cancer

, Volume 18, Issue 2, pp 193–196 | Cite as

A squamous cell carcinoma in a young woman with Lynch syndrome

  • F. Adan
  • M. B. CrijnsEmail author
  • E. Dekker
  • B. A. J. Bastiaansen
  • O. Lapid
  • P. Snaebjornsson
  • E. H. Rosenberg
  • M. E. van Leerdam
  • M. W. Bekkenk
Short Communication

Abstract

Lynch syndrome (LS) is an autosomal-dominant inherited disorder characterized by a predisposition to colorectal cancer and extracolonic cancers (particularly endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, urothelial tract, brain, and skin). Muir–Torre syndrome (MTS) is considered a phenotypical variant of LS, where patients develop sebaceous neoplasms and keratoacanthomas. Currently, only few studies and case reports suggest an association between LS and other skin cancers, such as Bowens’ disease, melanoma and squamous cell carcinoma (SCC). In this case-report we describe the case of a 33-year-old woman with LS and a proven MSH2 germline mutation, presenting with a SCC on the right cheek. Immunohistochemistry lacked MSH2 and MSH6 protein staining. The tumor showed a discordance between immunohistochemistry and micro-satellite instability status, for which a clear explanation cannot be provided yet. To conclude whether this pattern is indicative for SCC occurring in LS patients, further analyses of other LS patients presenting with SCC should be carried out. Our patient’s young age and skin type (Fitzpatrick phototype VI) suggest a possible link between LS and cutaneous SCC.

Keywords

Lynch syndrome Muir–Torre syndrome Squamous cell carcinoma Mismatch repair Micro-satellite instability Immunohistochemistry 

Notes

Compliance with ethical standards

Conflict of interest

The authors have no conflict of interest to declare.

Informed consent

Informed consent was obtained from the patient described in this study.

References

  1. 1.
    Lynch HT, Snyder CL, Shaw TG, Heinen CD, Hitchins MP (2015) Milestones of Lynch syndrome: 1895–2015. Nat Rev Cancer 15(3):181–194CrossRefPubMedGoogle Scholar
  2. 2.
    John AM, Schwartz RA (2016) Muir-Torre syndrome (MTS): an update and approach to diagnosis and management. J Am Acad Dermatol 74(3):558–566CrossRefPubMedGoogle Scholar
  3. 3.
    Sorscher S (2015) A case of squamous cell carcinoma of the skin due to the molecularly confirmed Lynch syndrome. Hered Cancer Clin Pract 13(1):12CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Hatta N, Takata A, Ishizawa S, Niida Y (2015) Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions. J Dermatol 42(11):1087–1090CrossRefPubMedGoogle Scholar
  5. 5.
    Ponti G, Losi L, Pellacani G, Wannesson L, Cesinaro AM, Venesio T et al (2008) Malignant melanoma in patients with hereditary nonpolyposis colorectal cancer. Br J Dermatol 159(1):162–168CrossRefPubMedGoogle Scholar
  6. 6.
    Fitzpatrick TB (1988) The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 124(6):869–871CrossRefGoogle Scholar
  7. 7.
    Marks R (1996) Squamous cell carcinoma. Lancet 347(9003):735–738CrossRefPubMedGoogle Scholar
  8. 8.
    Kientz C, Joly MO, Faivre L, Clemenson A, Dalac S, Lepage C et al (2017) A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma. Hered Cancer Clin Pract 15:6CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Gray SE, Kay EW, Leader M, Mabruk MJ (2006) Enhanced detection of microsatellite instability and mismatch repair gene expression in cutaneous squamous cell carcinomas. Mol Diagn Ther 10(5):327–334CrossRefPubMedGoogle Scholar
  10. 10.
    Lamba AR, Moore AY, Moore T, Rhees J, Arnold MA, Boland CR (2015) Defective DNA mismatch repair activity is common in sebaceous neoplasms, and may be an ineffective approach to screen for Lynch syndrome. Fam Cancer 14(2):259–264CrossRefPubMedGoogle Scholar
  11. 11.
    Haraldsdottir S (2017) Microsatellite instability testing using next-generation sequencing data and therapy implications. JCO™ Precis Oncol.  https://doi.org/10.1200/PO.17.00189 CrossRefGoogle Scholar
  12. 12.
    Wimmer K, Etzler J (2008) Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 124(2):105–122CrossRefGoogle Scholar
  13. 13.
    Gylling AH, Nieminen TT, Abdel-Rahman WM, Nuorva K, Juhola M, Joensuu EI et al (2008) Differential cancer predisposition in Lynch syndrome: insights from molecular analysis of brain and urinary tract tumors. Carcinogenesis 29(7):1351–1359CrossRefPubMedGoogle Scholar
  14. 14.
    Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R et al (2017) Comprehensive analysis of hypermutation in human cancer. Cell 171(5):1042–1056CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  • F. Adan
    • 1
  • M. B. Crijns
    • 1
    Email author
  • E. Dekker
    • 2
  • B. A. J. Bastiaansen
    • 2
  • O. Lapid
    • 3
  • P. Snaebjornsson
    • 4
  • E. H. Rosenberg
    • 4
  • M. E. van Leerdam
    • 5
  • M. W. Bekkenk
    • 6
  1. 1.Department of DermatologyNetherlands Cancer InstituteAmsterdamThe Netherlands
  2. 2.Department of GastroenterologyAcademic Medical CentreAmsterdamThe Netherlands
  3. 3.Department of Plastic and Reconstructive SurgeryAcademic Medical CentreAmsterdamThe Netherlands
  4. 4.Department of PathologyNetherlands Cancer InstituteAmsterdamThe Netherlands
  5. 5.Department of GastroenterologyNetherlands Cancer InstituteAmsterdamThe Netherlands
  6. 6.Department of DermatologyAcademic Medical CentreAmsterdamThe Netherlands

Personalised recommendations