Clinical and molecular characteristics of squamous cell carcinomas from Fanconi anemia patients

Hester J T Van Zeeburg, Peter J F Snijders, Thijs Wu, Eliane Gluckman, Jean Soulier, Jordi Surralles, Maria Castella, Jacqueline E. Van Der Wal, Johan Wennerberg, Joseph Califano, Eunike Velleuer, Ralf Dietrich, Wolfram Ebell, Elisabeth Bloemena, Hans Joenje, C. René Leemans, Ruud H. Brakenhoff

Research output: Contribution to journalArticlepeer-review

69 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1649-1653
Number of pages5
JournalJournal of the National Cancer Institute
Issue number22
StatePublished - Nov 2008

ASJC Scopus subject areas

  • Cancer Research
  • Oncology


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