Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

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 frequenc...

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Bibliographic Details
Published inAmerican journal of medical genetics. Part C, Seminars in medical genetics Vol. 137C; no. 1; pp. 53 - 71
Main Author Lapunzina, Pablo
Format Journal Article
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 15.08.2005
Subjects
Abnormalities, Multiple - classification
Bannayan-Riley-Ruvalcaba syndrome
Beckwith-Wiedemann syndrome
cost/benefit program
Disease Susceptibility
Growth Disorders - classification
Growth Disorders - complications
Humans
isolated hemihyperplasia
Klippel-Trenaunay syndrome
macrocephaly-cutis marmorata syndrome
Marshall-Smith syndrome
Neoplasms - classification
Neoplasms - complications
Perlman syndrome
Proteus syndrome tumor screening
Simpson-Golabi-Behmel syndrome
Sotos syndrome
Syndrome
Weaver syndrome
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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.
AbstractList 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.
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.
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.
Author Lapunzina, Pablo
Author_xml – sequence: 1
  givenname: Pablo
  surname: Lapunzina
  fullname: Lapunzina, Pablo
  email: michael.cohen@dal.ca
  organization: Dr. M. Michael Cohen Jr, Dalhousie University, 5981 University Ave., Halifax, Nova Scotia B3H 3J5, Canada
BackLink https://www.ncbi.nlm.nih.gov/pubmed/16010678$$D View this record in MEDLINE/PubMed
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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.
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PublicationTitle American journal of medical genetics. Part C, Seminars in medical genetics
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1997; 34
1997; 39
1988; 23
1981; 15
1997; 38
1981; 18
1977; 12
1994; 93
1998; 79
2003; 23
1997; 235
2000; 5
1989b; 81
1991; 150
2000; 8
1982; 100
1999; 89
2005; 20
1983; 52
1999; 86
1988; 142
1999; 84
2003; 19
1988; 30
1992; 16
1999; 83
1988; 140
1993; 1
1999; 80
1998; 45
2003; 12
1982; 25
1990; 138
1991; 146
1997; 10
1986; 145
1982; 6
1997; 100
1988; 43
1972; 10
1983; 60
1994; 39
2001; 99
1998; 53
1976; 37
2003; 121
1994; 31
1995; 95
2001; 72
1998; 28
1995; 94
1987; 12
1982; 128
1981; 126
1978; 95
1994; 46
1999; 8
1983; 34
1988; 1
1993; 13
1967; 70
1990; 65
1993; 19
2002; 161
1993; 18
2004; 113
1976; 11
2000; 37
1980; 96
1981; 137
2001; 4
2000; 35
1988; 8
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1988; 7
1988; 61
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1978; 127
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Snippet Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is...
Abstract Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head...
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StartPage 53
SubjectTerms Abnormalities, Multiple - classification
Bannayan-Riley-Ruvalcaba syndrome
Beckwith-Wiedemann syndrome
cost/benefit program
Disease Susceptibility
Growth Disorders - classification
Growth Disorders - complications
Humans
isolated hemihyperplasia
Klippel-Trenaunay syndrome
macrocephaly-cutis marmorata syndrome
Marshall-Smith syndrome
Neoplasms - classification
Neoplasms - complications
Perlman syndrome
Proteus syndrome tumor screening
Simpson-Golabi-Behmel syndrome
Sotos syndrome
Syndrome
Weaver syndrome
Title Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
URI https://api.istex.fr/ark:/67375/WNG-69JKN2MC-Z/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1002%2Fajmg.c.30064
https://www.ncbi.nlm.nih.gov/pubmed/16010678
https://search.proquest.com/docview/68073920
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