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Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Authors

  • Pablo Lapunzina

    Corresponding author
    • Dr. M. Michael Cohen Jr, Dalhousie University, 5981 University Ave., Halifax, Nova Scotia B3H 3J5, Canada.
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    • Dr. Pablo Lapunzina. Pediatrician, Clinical and Molecular Geneticist, and Specialist in Embryofetal Medicine. He trained in Pediatrics and then in Medical Genetics and Dysmorphology at the Children's Hospital of Buenos Aires, University of Buenos Aires, Argentina. He also completed 3 years of training in Molecular Genetics at the Instituto Nacional de Genética y Biología Molecular (INGEBI-CONICET), Buenos Aires. He is now on the Staff of the Department of Genetics, Hospital Universitario La Paz, Autónoma University of Madrid, Spain. His interests span dysmorphology, clinical genetics, and molecular genetics. He is author or coauthor of over 70 articles in the medical and scientific literature, 18 book chapters, and 1 book. He now focuses on ovegrowth syndromes.


Abstract

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2–3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders. © 2005 Wiley-Liss, Inc.

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