Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors

TY - JOUR

T1 - Ovarian cancer linked to lynch syndrome typically presents as early-onset, non-serous epithelial tumors

AU - Ketabi, Zohreh

AU - Bartuma, Katarina

AU - Bernstein, Inge

AU - Malander, Susanne

AU - Grönberg, Henrik

AU - Björck, Erik

AU - Holck, Susanne

AU - Nilbert, Mef

AU - Ketabi, Zohreh

AU - Ketabi, Zohreh

N1 - Copyright © 2011 Elsevier Inc. All rights reserved.

PY - 2011/6/1

Y1 - 2011/6/1

N2 - Objective: Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized. Methods: We characterized clinical features, tumor morphology and mismatch repair defects in all ovarian cancers identified in Swedish and Danish Lynch syndrome families. Results: In total, 63 epithelial ovarian cancers developed at mean 48 (range 30-79) years of age with 47% being early stage (FIGO stage I). Histologically, endometrioid (35%) and clear cell (17%) tumors were overrepresented. The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. Conclusion: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch syndrome typically presents at young age as early-stage, non-serous tumors, which implicates that a family history of colorectal and endometrial cancer should be specifically considered in such cases.

AB - Objective: Heredity is a major cause of ovarian cancer and during recent years the contribution from germline mismatch repair (MMR) gene mutations linked to Lynch syndrome has gradually been recognized. Methods: We characterized clinical features, tumor morphology and mismatch repair defects in all ovarian cancers identified in Swedish and Danish Lynch syndrome families. Results: In total, 63 epithelial ovarian cancers developed at mean 48 (range 30-79) years of age with 47% being early stage (FIGO stage I). Histologically, endometrioid (35%) and clear cell (17%) tumors were overrepresented. The underlying MMR gene mutations in these families affected MSH2 in 49%, MSH6 in 33% and MLH1 in 17%. Immunohistochemical loss of the corresponding MMR protein was demonstrated in 33/36 (92%) tumors analyzed. Conclusion: The combined data from our cohorts demonstrate that ovarian cancer associated with Lynch syndrome typically presents at young age as early-stage, non-serous tumors, which implicates that a family history of colorectal and endometrial cancer should be specifically considered in such cases.

U2 - 10.1016/j.ygyno.2011.02.010

DO - 10.1016/j.ygyno.2011.02.010

M3 - Journal article

C2 - 21388660

SN - 0090-8258

VL - 121

JO - Gynecologic Oncology

JF - Gynecologic Oncology

IS - 3

ER -