TY - JOUR
T1 - Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients
AU - Van Zeeburg, Hester J T
AU - Snijders, Peter J F
AU - Wu, Thijs
AU - Gluckman, Eliane
AU - Soulier, Jean
AU - Surralles, Jordi
AU - Castella, Maria
AU - Van Der Wal, Jacqueline E.
AU - Wennerberg, Johan
AU - Califano, Joseph
AU - Velleuer, Eunike
AU - Dietrich, Ralf
AU - Ebell, Wolfram
AU - Bloemena, Elisabeth
AU - Joenje, Hans
AU - Leemans, C. René
AU - Brakenhoff, Ruud H.
PY - 2008/11
Y1 - 2008/11
N2 - Fanconi anemia is a recessively inherited disease that is characterized by congenital abnormalities, bone marrow failure, and a predisposition to develop cancer, particularly squamous cell carcinomas (SCCs) in the head and neck and anogenital regions. Previous studies of Fanconi anemia SCCs, mainly from US patients, revealed the presence of high-risk human papillomavirus (HPV) DNA in 21 (84%) of 25 tumors analyzed. We examined a panel of 21 SCCs mainly from European Fanconi anemia patients (n = 19 FA patients; 16 head and neck squamous cell carcinomas [HNSCCs], 2 esophageal SCCs, and 3 anogenital SCCs) for their clinical and molecular characteristics, including patterns of allelic loss, TP53 mutations, and the presence of HPV DNA by GP5+/6+ polymerase chain reaction. HPV DNA was detected in only two (10%) of 21 tumors (both anogenital SCCs) but in none of the 16 HNSCCs. Of the 18 tumors analyzed, 10 contained a TP53 mutation. The patterns of allelic loss were comparable to those generally found in sporadic SCCs. Our data show that HPV does not play a major role in squamous cell carcinogenesis in this cohort of Fanconi anemia patients and that the Fanconi anemia SCCs are genetically similar to sporadic SCCs despite having a different etiology.
AB - Fanconi anemia is a recessively inherited disease that is characterized by congenital abnormalities, bone marrow failure, and a predisposition to develop cancer, particularly squamous cell carcinomas (SCCs) in the head and neck and anogenital regions. Previous studies of Fanconi anemia SCCs, mainly from US patients, revealed the presence of high-risk human papillomavirus (HPV) DNA in 21 (84%) of 25 tumors analyzed. We examined a panel of 21 SCCs mainly from European Fanconi anemia patients (n = 19 FA patients; 16 head and neck squamous cell carcinomas [HNSCCs], 2 esophageal SCCs, and 3 anogenital SCCs) for their clinical and molecular characteristics, including patterns of allelic loss, TP53 mutations, and the presence of HPV DNA by GP5+/6+ polymerase chain reaction. HPV DNA was detected in only two (10%) of 21 tumors (both anogenital SCCs) but in none of the 16 HNSCCs. Of the 18 tumors analyzed, 10 contained a TP53 mutation. The patterns of allelic loss were comparable to those generally found in sporadic SCCs. Our data show that HPV does not play a major role in squamous cell carcinogenesis in this cohort of Fanconi anemia patients and that the Fanconi anemia SCCs are genetically similar to sporadic SCCs despite having a different etiology.
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U2 - 10.1093/jnci/djn366
DO - 10.1093/jnci/djn366
M3 - Article
C2 - 19001603
AN - SCOPUS:56749181183
SN - 0027-8874
VL - 100
SP - 1649
EP - 1653
JO - Journal of the National Cancer Institute
JF - Journal of the National Cancer Institute
IS - 22
ER -