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Clinical and Molecular Characteristics of Squamous Cell Carcinomas From Fanconi Anemia Patients

van Zeeburg, Hester J. T.; Snijders, Peter J. F.; Wu, Thijs; Gluckman, Eliane; Soulier, Jean; Surralles, Jordi; Castella, Maria; van der Wal, Jacqueline E.; Wennerberg, Johan LU and Califano, Joseph, et al. (2008) In Journal of the National Cancer Institute 100(22). p.1649-1653
Abstract
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... (More)
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. (Less)
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publication status
published
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Journal of the National Cancer Institute
volume
100
issue
22
pages
1649 - 1653
publisher
Oxford University Press
external identifiers
  • wos:000261170000012
  • scopus:56749181183
ISSN
1460-2105
DOI
10.1093/jnci/djn366
language
English
LU publication?
yes
id
1127323a-9001-4161-a97f-c9192f274b82 (old id 1307514)
date added to LUP
2009-03-20 10:41:12
date last changed
2017-09-17 06:35:39
@article{1127323a-9001-4161-a97f-c9192f274b82,
  abstract     = {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.},
  author       = {van Zeeburg, Hester J. T. and Snijders, Peter J. F. and Wu, Thijs and Gluckman, Eliane and Soulier, Jean and Surralles, Jordi and Castella, Maria and van der Wal, Jacqueline E. and Wennerberg, Johan and Califano, Joseph and Velleuer, Eunike and Dietrich, Ralf and Ebell, Wolfram and Bloemena, Elisabeth and Joenje, Hans and Leemans, C. Rene and Brakenhoff, Ruud H.},
  issn         = {1460-2105},
  language     = {eng},
  number       = {22},
  pages        = {1649--1653},
  publisher    = {Oxford University Press},
  series       = {Journal of the National Cancer Institute},
  title        = {Clinical and Molecular Characteristics of Squamous Cell Carcinomas From Fanconi Anemia Patients},
  url          = {http://dx.doi.org/10.1093/jnci/djn366},
  volume       = {100},
  year         = {2008},
}