Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

Nicholas Hearle, Valérie Schumacher, Fred H. Menko, Sylviane Olschwang, Lisa A. Boardman, Johan J P Gille, Josbert J. Keller, Anne Marie Westerman, Rodney J. Scott, Wendy Lim, Jill Brensinger Trimbath, Francis M Giardiello, Stephen B. Gruber, G. Johan A Offerhaus, Felix W M De Rooij, J. H Paul Wilson, Anika Hansmann, Gabriela Möslein, Brigitte Royer-Pokora, Tilman VogelRobin K S Phillips, Allan D. Spigelman, Richard S. Houlston

Research output: Contribution to journalArticle

Abstract

Background: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/ LKB1 (serine/threonine kinase) mutation status are limited. Experimental Design: We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. Results: Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference χ 2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk. Conclusions: The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.

Original languageEnglish (US)
Pages (from-to)3209-3215
Number of pages7
JournalClinical Cancer Research
Volume12
Issue number10
DOIs
StatePublished - May 15 2006

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Peutz-Jeghers Syndrome
Neoplasms
Mutation
Protein-Serine-Threonine Kinases
Kaplan-Meier Estimate
Pancreatic Neoplasms
Germ Cells
Research Design

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Hearle, N., Schumacher, V., Menko, F. H., Olschwang, S., Boardman, L. A., Gille, J. J. P., ... Houlston, R. S. (2006). Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinical Cancer Research, 12(10), 3209-3215. https://doi.org/10.1158/1078-0432.CCR-06-0083

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. / Hearle, Nicholas; Schumacher, Valérie; Menko, Fred H.; Olschwang, Sylviane; Boardman, Lisa A.; Gille, Johan J P; Keller, Josbert J.; Westerman, Anne Marie; Scott, Rodney J.; Lim, Wendy; Brensinger Trimbath, Jill; Giardiello, Francis M; Gruber, Stephen B.; Offerhaus, G. Johan A; De Rooij, Felix W M; Wilson, J. H Paul; Hansmann, Anika; Möslein, Gabriela; Royer-Pokora, Brigitte; Vogel, Tilman; Phillips, Robin K S; Spigelman, Allan D.; Houlston, Richard S.

In: Clinical Cancer Research, Vol. 12, No. 10, 15.05.2006, p. 3209-3215.

Research output: Contribution to journalArticle

Hearle, N, Schumacher, V, Menko, FH, Olschwang, S, Boardman, LA, Gille, JJP, Keller, JJ, Westerman, AM, Scott, RJ, Lim, W, Brensinger Trimbath, J, Giardiello, FM, Gruber, SB, Offerhaus, GJA, De Rooij, FWM, Wilson, JHP, Hansmann, A, Möslein, G, Royer-Pokora, B, Vogel, T, Phillips, RKS, Spigelman, AD & Houlston, RS 2006, 'Frequency and spectrum of cancers in the Peutz-Jeghers syndrome', Clinical Cancer Research, vol. 12, no. 10, pp. 3209-3215. https://doi.org/10.1158/1078-0432.CCR-06-0083
Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, Gille JJP et al. Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clinical Cancer Research. 2006 May 15;12(10):3209-3215. https://doi.org/10.1158/1078-0432.CCR-06-0083
Hearle, Nicholas ; Schumacher, Valérie ; Menko, Fred H. ; Olschwang, Sylviane ; Boardman, Lisa A. ; Gille, Johan J P ; Keller, Josbert J. ; Westerman, Anne Marie ; Scott, Rodney J. ; Lim, Wendy ; Brensinger Trimbath, Jill ; Giardiello, Francis M ; Gruber, Stephen B. ; Offerhaus, G. Johan A ; De Rooij, Felix W M ; Wilson, J. H Paul ; Hansmann, Anika ; Möslein, Gabriela ; Royer-Pokora, Brigitte ; Vogel, Tilman ; Phillips, Robin K S ; Spigelman, Allan D. ; Houlston, Richard S. / Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. In: Clinical Cancer Research. 2006 ; Vol. 12, No. 10. pp. 3209-3215.
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T1 - Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

AU - Hearle, Nicholas

AU - Schumacher, Valérie

AU - Menko, Fred H.

AU - Olschwang, Sylviane

AU - Boardman, Lisa A.

AU - Gille, Johan J P

AU - Keller, Josbert J.

AU - Westerman, Anne Marie

AU - Scott, Rodney J.

AU - Lim, Wendy

AU - Brensinger Trimbath, Jill

AU - Giardiello, Francis M

AU - Gruber, Stephen B.

AU - Offerhaus, G. Johan A

AU - De Rooij, Felix W M

AU - Wilson, J. H Paul

AU - Hansmann, Anika

AU - Möslein, Gabriela

AU - Royer-Pokora, Brigitte

AU - Vogel, Tilman

AU - Phillips, Robin K S

AU - Spigelman, Allan D.

AU - Houlston, Richard S.

PY - 2006/5/15

Y1 - 2006/5/15

N2 - Background: Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/ LKB1 (serine/threonine kinase) mutation status are limited. Experimental Design: We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. Results: Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference χ 2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk. Conclusions: The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.

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