PMID- 16304664
OWN - NLM
STAT- MEDLINE
DCOM- 20070213
LR  - 20090112
IS  - 1545-5009 (Print)
IS  - 1545-5009 (Linking)
VI  - 47
IP  - 6
DP  - 2006 Nov
TI  - Pediatric paraganglioma: an early manifestation of an adult disease secondary to 
      germline mutations.
PG  - 785-9
AB  - BACKGROUND: Paraganglioma (PGL) and phaeochromocytoma (PCC) are chemotherapy and 
      radiation-resistant neuroendocrine tumors that arise from sympathetic tissue, and 
      rarely occur in children. PCC may be associated with predisposing (germline) 
      conditions like the multiple endocrine neoplasia type 2 (MEN2; OMIM 164761), von 
      Hippel-Lindau syndrome (VHL; OMIM 193300), and rarely neurofibromatosis type 1 
      syndrome (NF1; OMIM 162200) and multiple endocrine neoplasia type 1 (MEN1; OMIM 
      131100). PGL, on the other hand, may be related to predisposing germline 
      conditions like the familial PGL syndrome and the NF1 syndrome. In adult studies, 
      one of the highest predisposing factors for germline mutation among patients 
      presenting apparently sporadic PCC/PGL was their age at presentation. The aim of 
      this study was to determine the rate of germline mutations among the rare 
      patients presenting with sporadic PGL during childhood. PROCEDURE: In this study, 
      we report the genetic analysis for predisposing conditions for the only three PGL 
      cases retrospectively identified at our pediatric institution in the last 20 
      years. RESULTS: None had NF1 clinical associated lesions. Mutation screening of 
      genes associated to VHL (VHL), MEN (RET), and familial PGL (SDH-B, -C, and -D) 
      showed that all cases had germline deletions in the SDHB gene. We report a novel 
      mutation, c.778 del C. Importantly, several non-symptomatic relatives were found 
      to be carriers, thus ensuring them a clinical follow-up. CONCLUSION: According to 
      our findings, PGL presenting during childhood represents an early manifestation 
      of an adult disease caused by predisposing germline mutations. These results 
      underline the importance of genetic studies in pediatric PGLs.
CI  - (c) 2005 Wiley-Liss, Inc.
FAU - Mora, Jaume
AU  - Mora J
AD  - Laboratori de biologia molecular dels tumors del desenvolupament i Oncologia 
      Pediatrica, Hospital Sant Joan de Deu de Barcelona, Spain. jmora@hsjdbcn.org
FAU - Cascon, Alberto
AU  - Cascon A
FAU - Robledo, Mercedes
AU  - Robledo M
FAU - Catala, Albert
AU  - Catala A
LA  - eng
SI  - OMIM/115310
SI  - OMIM/131100
SI  - OMIM/162200
SI  - OMIM/164761
SI  - OMIM/168000
SI  - OMIM/193300
SI  - OMIM/601650
SI  - OMIM/605373
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Pediatr Blood Cancer
JT  - Pediatric blood & cancer
JID - 101186624
SB  - IM
CIN - Pediatr Blood Cancer. 2007 Dec;49(7):1050-1; author reply 1052-3. PMID: 17243134
MH  - Adolescent
MH  - Adrenal Gland Neoplasms/diagnosis/*genetics/surgery
MH  - Child
MH  - DNA Mutational Analysis
MH  - Female
MH  - Follow-Up Studies
MH  - Gene Deletion
MH  - *Genetic Predisposition to Disease
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Neoplasm Recurrence, Local
MH  - Paraganglioma/diagnosis/*genetics/surgery
MH  - Pedigree
MH  - Polymerase Chain Reaction/methods
MH  - Reoperation
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
MH  - Tomography, X-Ray Computed
EDAT- 2005/11/24 09:00
MHDA- 2007/02/14 09:00
CRDT- 2005/11/24 09:00
PHST- 2005/11/24 09:00 [pubmed]
PHST- 2007/02/14 09:00 [medline]
PHST- 2005/11/24 09:00 [entrez]
AID - 10.1002/pbc.20680 [doi]
PST - ppublish
SO  - Pediatr Blood Cancer. 2006 Nov;47(6):785-9. doi: 10.1002/pbc.20680.