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[Colorectal Carcinoma with Suspected Lynch Syndrome: A Multidisciplinary Algorithm].

R Schneider1, C Schneider2, R Büttner3

  • 1Klinik für Visceral-, Thorax- und Gefäßchirurgie, Philipps-Universität Marburg, Deutschland.

Zentralblatt Fur Chirurgie
|November 6, 2014
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Summary
This summary is machine-generated.

Lynch syndrome, a common hereditary cancer cause, is often missed due to diagnostic uncertainties. Early detection via family history and molecular testing improves patient outcomes and prophylactic options.

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Area of Science:

  • Oncology
  • Genetics
  • Hereditary Cancer Syndromes

Background:

  • Lynch syndrome accounts for 3-5% of colorectal cancers and is a leading hereditary cause of endometrial cancer.
  • It is associated with increased risks for gastric, ovarian, and urinary tract cancers.
  • Clinical practice often involves underdiagnosis due to diagnostic uncertainties and lack of awareness.

Purpose of the Study:

  • To review and discuss optimized strategies for improved detection of Lynch syndrome.
  • To establish a clinical algorithm for diagnostic procedures and surgical options in colorectal cancer patients.
  • To highlight the importance of informed decision-making for patients regarding prophylactic surgeries.

Main Methods:

  • Ascertainment and evaluation of family history using Amsterdam-II and revised Bethesda criteria.
  • Immunohistochemical staining for mismatch-repair genes and BRAF testing for MLH1 loss.
  • Microsatellite instability testing, genetic counseling, and mutation analysis when indicated.

Main Results:

  • Pathological identification of suspected Lynch syndrome is feasible and straightforward.
  • Timely analysis of tumor biopsies is essential for offering extended or prophylactic surgeries.
  • Underdiagnosis persists due to limitations in clinical practice, family history assessment, and awareness.

Conclusions:

  • Optimized strategies involving family history, molecular testing, and genetic counseling can improve Lynch syndrome detection.
  • Multidisciplinary cooperation between gastroenterologists, pathologists, and surgeons is crucial.
  • Addressing underdiagnosis is vital to prevent metachronous cancers and ensure at-risk families benefit from screening.