Familial Cancer

, Volume 7, Issue 3, pp 267–274 | Cite as

Tumor histology helps to identify Lynch syndrome among colorectal cancer patients

  • Brindusa Truta
  • Yunn-Yi Chen
  • Amie M. Blanco
  • Guoren Deng
  • Peggy G. Conrad
  • Yong Ho Kim
  • Eun Taek Park
  • Sanjay Kakar
  • Young S. Kim
  • Fernando Velayos
  • Marvin H. Sleisenger
  • Jonathan P. Terdiman


Objective To determine the value of histology in identifying Lynch syndrome among those patients with early onset of colorectal cancer (CRC). Methods Demographic, clinical and cancer history data from patients diagnosed with CRC before 60 years of age, and treated at our institution between 1997 and 2005, were collected from medical records and direct interview. Their tumors were assessed to identify histological features suggestive of high frequency microsatellite instability (MSI-H): tumor infiltrating lymphocytes, Crohn’s like inflammatory reaction, mucinous, signet ring cells, medullary growth pattern and then, tested for microsatellite instability (MSI) and MLH1/ MSH2 protein expression. Results Sixty-five patients were included in the study. The mean age at diagnosis was 48 ± 9.9 years. Overall, 28 (43%) patients, including 13 of 35 diagnosed between ages 50 and 60, had tumor demonstrating one or more histological features suggestive of MSI-H. These patients were younger (45 vs. 50 years, P = 0.02) and more commonly had family history of Lynch syndrome-related cancers (36 vs. 19%), though the latter feature did not reach statistical significance (P = 0.07). Eleven of 25 tumors with MSI-H histology, but only 1 of 29 tumors without special histological features were found to be MSI-H (P < 0.0001). Histology had a positive predictive value of 44% and a negative predictive value of 97% for identifying MSI-H tumors. Conclusions Limiting MSI analysis only to those tumors with suggestive histology would have reduced the need for testing by nearly 60% of all tumors from patients that met the revised Bethesda guidelines.


Colorectal cancer MSI Hereditary colorectal cancer Tumor infiltrating lymphocytes Crohn’s like inflammatory reaction Mucinous Signet ring cells Medullary growth pattern 



Colorectal cancer




Hereditary nonpolyposis colorectal cancer syndrome


Mismatch repair protein


Microsatellite instability


High frequency microsatellite instability


Low frequency microsatellite instability


Microsatellite stable


Polymerase chain reaction


Tumor infiltrate lymphocytes


University California of San Francisco.



We would like to bring our thanks to Betz Foundation for the important financial support to this study.


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Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • Brindusa Truta
    • 1
  • Yunn-Yi Chen
    • 1
  • Amie M. Blanco
    • 1
  • Guoren Deng
    • 2
  • Peggy G. Conrad
    • 1
  • Yong Ho Kim
    • 2
  • Eun Taek Park
    • 2
  • Sanjay Kakar
    • 1
    • 2
  • Young S. Kim
    • 1
    • 2
  • Fernando Velayos
    • 1
  • Marvin H. Sleisenger
    • 1
    • 2
  • Jonathan P. Terdiman
    • 1
  1. 1.Department of Medicine, Gastroenterology DivisionUniversity California San FranciscoSan FranciscoUSA
  2. 2.Department of Medicine, Gastroenterology SectionVeterans Affairs Medical CenterSan FranciscoUSA

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