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An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis

Summary Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma–paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B ( SDHB ), C ( SD... Full description

Journal Title: The lancet oncology 2009, Vol.10 (8), p.764-771
Main Author: van Nederveen, Francien H, MD
Other Authors: Gaal, José, MD , Favier, Judith, PhD , Korpershoek, Esther, BSc , Oldenburg, Rogier A, MD , de Bruyn, Elly MCA, BSc , Sleddens, Hein FBM, BSc , Derkx, Pieter, BSc , Rivière, Julie, BSc , Dannenberg, Hilde, MD , Petri, Bart-Jeroen, MD , Komminoth, Paul, Prof , Pacak, Karel, Prof , Hop, Wim CJ, PhD , Pollard, Patrick J, MD , Mannelli, Massimo, Prof , Bayley, Jean-Pierre, PhD , Perren, Aurel, MD , Niemann, Stephan, PhD , Verhofstad, Albert A, MD , de Bruïne, Adriaan P, Prof , Maher, Eamonn R, Prof , Tissier, Frédérique, MD , Méatchi, Tchao, MD , Badoual, Cécile, MD , Bertherat, Jérôme, Prof , Amar, Laurence, MD , Alataki, Despoina, MD , Van Marck, Eric, Prof , Ferrau, Francesco, MD , François, Jerney, BSc , de Herder, Wouter W, MD , Peeters, Mark-Paul FM Vrancken, MD , van Linge, Anne, MD , Lenders, Jacques WM, Prof , Gimenez-Roqueplo, Anne-Paule, Prof , de Krijger, Ronald R, MD , Dinjens, Winand NM, Dr
Format: Electronic Article Electronic Article
Language: English
Subjects:
Quelle: Alma/SFX Local Collection
Publisher: England: Elsevier Ltd
ID: ISSN: 1470-2045
Link: https://www.ncbi.nlm.nih.gov/pubmed/19576851
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title: An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis
format: Article
creator:
  • van Nederveen, Francien H, MD
  • Gaal, José, MD
  • Favier, Judith, PhD
  • Korpershoek, Esther, BSc
  • Oldenburg, Rogier A, MD
  • de Bruyn, Elly MCA, BSc
  • Sleddens, Hein FBM, BSc
  • Derkx, Pieter, BSc
  • Rivière, Julie, BSc
  • Dannenberg, Hilde, MD
  • Petri, Bart-Jeroen, MD
  • Komminoth, Paul, Prof
  • Pacak, Karel, Prof
  • Hop, Wim CJ, PhD
  • Pollard, Patrick J, MD
  • Mannelli, Massimo, Prof
  • Bayley, Jean-Pierre, PhD
  • Perren, Aurel, MD
  • Niemann, Stephan, PhD
  • Verhofstad, Albert A, MD
  • de Bruïne, Adriaan P, Prof
  • Maher, Eamonn R, Prof
  • Tissier, Frédérique, MD
  • Méatchi, Tchao, MD
  • Badoual, Cécile, MD
  • Bertherat, Jérôme, Prof
  • Amar, Laurence, MD
  • Alataki, Despoina, MD
  • Van Marck, Eric, Prof
  • Ferrau, Francesco, MD
  • François, Jerney, BSc
  • de Herder, Wouter W, MD
  • Peeters, Mark-Paul FM Vrancken, MD
  • van Linge, Anne, MD
  • Lenders, Jacques WM, Prof
  • Gimenez-Roqueplo, Anne-Paule, Prof
  • de Krijger, Ronald R, MD
  • Dinjens, Winand NM, Dr
subjects:
  • Adolescent
  • Adrenal Gland Neoplasms - diagnosis
  • Adrenal Gland Neoplasms - genetics
  • Adult
  • Aged
  • Article
  • Blotting, Western
  • Child
  • Developmental biology
  • DNA Mutational Analysis
  • endocrine system
  • endocrine system diseases
  • Female
  • Gene mutations
  • Genetic aspects
  • Genetic research
  • Germ-Line Mutation
  • Hematology, Oncology and Palliative Medicine
  • Human genetics
  • Human medicine
  • Humans
  • Hypertension
  • Immunohistochemistry
  • Immunohistochemistry - methods
  • Male
  • Membrane Proteins - genetics
  • Middle Aged
  • Molecular genetics
  • Paraganglioma - diagnosis
  • Paraganglioma - genetics
  • Pheochromocytoma - diagnosis
  • Pheochromocytoma - genetics
  • Succinate Dehydrogenase - genetics
  • Syndrome
  • Tumors
  • Universities and colleges
  • Young Adult
ispartof: The lancet oncology, 2009, Vol.10 (8), p.764-771
description: Summary Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma–paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B ( SDHB ), C ( SDHC ), or D ( SDHD ) genes. Clinically, the phaeochromocytoma–paraganglioma syndrome is often unrecognised, although 10–30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH -gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma–paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH -related and non- SDH -related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series. Methods Immunohistochemistry for SDHB was done on 220 tumours. Two retrospective series of 175 phaeochromocytomas and paragangliomas with known germline mutation status for phaeochromocytoma-susceptibility or paraganglioma-susceptibility genes were investigated. Additionally, a prospective series of 45 phaeochromocytomas and paragangliomas was investigated for SDHB immunostaining followed by SDHB, SDHC , and SDHD mutation testing. Findings SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC , or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel–Lindau disease, and neurofibromatosis type 1. 47 (89%) of the 53 phaeochromocytomas and paragangliomas with no syndromic germline mutation showed SDHB expression. The sensitivity and specificity of the SDHB immunohistochemistry to detect the presence of an SDH mutation in the prospective series were 100% (95% CI 87–100) and 84% (60–97), respectively. Interpretation Phaeochromocytoma–paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure. SDHB, SDHC , and SDHD germline mutation testing is indicated only in patients with SDHB-negative tumours. SDHB immunohistochemistry on phaeochromocytomas and paragangliomas could improve the diagnosis of phaeochromocytoma–paraganglioma syndrome. Funding The Netherlands Organisation for Scientific Research, Dutch Cancer Society, Vanderes Foundation, Association pour la Recherche contre le Cancer
language: eng
source: Alma/SFX Local Collection
identifier: ISSN: 1470-2045
fulltext: fulltext
issn:
  • 1470-2045
  • 1474-5488
url: Link


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titleAn immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis
sourceAlma/SFX Local Collection
creatorvan Nederveen, Francien H, MD ; Gaal, José, MD ; Favier, Judith, PhD ; Korpershoek, Esther, BSc ; Oldenburg, Rogier A, MD ; de Bruyn, Elly MCA, BSc ; Sleddens, Hein FBM, BSc ; Derkx, Pieter, BSc ; Rivière, Julie, BSc ; Dannenberg, Hilde, MD ; Petri, Bart-Jeroen, MD ; Komminoth, Paul, Prof ; Pacak, Karel, Prof ; Hop, Wim CJ, PhD ; Pollard, Patrick J, MD ; Mannelli, Massimo, Prof ; Bayley, Jean-Pierre, PhD ; Perren, Aurel, MD ; Niemann, Stephan, PhD ; Verhofstad, Albert A, MD ; de Bruïne, Adriaan P, Prof ; Maher, Eamonn R, Prof ; Tissier, Frédérique, MD ; Méatchi, Tchao, MD ; Badoual, Cécile, MD ; Bertherat, Jérôme, Prof ; Amar, Laurence, MD ; Alataki, Despoina, MD ; Van Marck, Eric, Prof ; Ferrau, Francesco, MD ; François, Jerney, BSc ; de Herder, Wouter W, MD ; Peeters, Mark-Paul FM Vrancken, MD ; van Linge, Anne, MD ; Lenders, Jacques WM, Prof ; Gimenez-Roqueplo, Anne-Paule, Prof ; de Krijger, Ronald R, MD ; Dinjens, Winand NM, Dr
creatorcontribvan Nederveen, Francien H, MD ; Gaal, José, MD ; Favier, Judith, PhD ; Korpershoek, Esther, BSc ; Oldenburg, Rogier A, MD ; de Bruyn, Elly MCA, BSc ; Sleddens, Hein FBM, BSc ; Derkx, Pieter, BSc ; Rivière, Julie, BSc ; Dannenberg, Hilde, MD ; Petri, Bart-Jeroen, MD ; Komminoth, Paul, Prof ; Pacak, Karel, Prof ; Hop, Wim CJ, PhD ; Pollard, Patrick J, MD ; Mannelli, Massimo, Prof ; Bayley, Jean-Pierre, PhD ; Perren, Aurel, MD ; Niemann, Stephan, PhD ; Verhofstad, Albert A, MD ; de Bruïne, Adriaan P, Prof ; Maher, Eamonn R, Prof ; Tissier, Frédérique, MD ; Méatchi, Tchao, MD ; Badoual, Cécile, MD ; Bertherat, Jérôme, Prof ; Amar, Laurence, MD ; Alataki, Despoina, MD ; Van Marck, Eric, Prof ; Ferrau, Francesco, MD ; François, Jerney, BSc ; de Herder, Wouter W, MD ; Peeters, Mark-Paul FM Vrancken, MD ; van Linge, Anne, MD ; Lenders, Jacques WM, Prof ; Gimenez-Roqueplo, Anne-Paule, Prof ; de Krijger, Ronald R, MD ; Dinjens, Winand NM, Dr
descriptionSummary Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma–paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B ( SDHB ), C ( SDHC ), or D ( SDHD ) genes. Clinically, the phaeochromocytoma–paraganglioma syndrome is often unrecognised, although 10–30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH -gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma–paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH -related and non- SDH -related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series. Methods Immunohistochemistry for SDHB was done on 220 tumours. Two retrospective series of 175 phaeochromocytomas and paragangliomas with known germline mutation status for phaeochromocytoma-susceptibility or paraganglioma-susceptibility genes were investigated. Additionally, a prospective series of 45 phaeochromocytomas and paragangliomas was investigated for SDHB immunostaining followed by SDHB, SDHC , and SDHD mutation testing. Findings SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC , or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel–Lindau disease, and neurofibromatosis type 1. 47 (89%) of the 53 phaeochromocytomas and paragangliomas with no syndromic germline mutation showed SDHB expression. The sensitivity and specificity of the SDHB immunohistochemistry to detect the presence of an SDH mutation in the prospective series were 100% (95% CI 87–100) and 84% (60–97), respectively. Interpretation Phaeochromocytoma–paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure. SDHB, SDHC , and SDHD germline mutation testing is indicated only in patients with SDHB-negative tumours. SDHB immunohistochemistry on phaeochromocytomas and paragangliomas could improve the diagnosis of phaeochromocytoma–paraganglioma syndrome. Funding The Netherlands Organisation for Scientific Research, Dutch Cancer Society, Vanderes Foundation, Association pour la Recherche contre le Cancer, Institut National de la Santé et de la Recherche Médicale, and a PHRC grant COMETE 3 for the COMETE network.
identifier
0ISSN: 1470-2045
1EISSN: 1474-5488
2DOI: 10.1016/S1470-2045(09)70164-0
3PMID: 19576851
4CODEN: LANCAO
languageeng
publisherEngland: Elsevier Ltd
subjectAdolescent ; Adrenal Gland Neoplasms - diagnosis ; Adrenal Gland Neoplasms - genetics ; Adult ; Aged ; Article ; Blotting, Western ; Child ; Developmental biology ; DNA Mutational Analysis ; endocrine system ; endocrine system diseases ; Female ; Gene mutations ; Genetic aspects ; Genetic research ; Germ-Line Mutation ; Hematology, Oncology and Palliative Medicine ; Human genetics ; Human medicine ; Humans ; Hypertension ; Immunohistochemistry ; Immunohistochemistry - methods ; Male ; Membrane Proteins - genetics ; Middle Aged ; Molecular genetics ; Paraganglioma - diagnosis ; Paraganglioma - genetics ; Pheochromocytoma - diagnosis ; Pheochromocytoma - genetics ; Succinate Dehydrogenase - genetics ; Syndrome ; Tumors ; Universities and colleges ; Young Adult
ispartofThe lancet oncology, 2009, Vol.10 (8), p.764-771
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0van Nederveen, Francien H, MD
1Gaal, José, MD
2Favier, Judith, PhD
3Korpershoek, Esther, BSc
4Oldenburg, Rogier A, MD
5de Bruyn, Elly MCA, BSc
6Sleddens, Hein FBM, BSc
7Derkx, Pieter, BSc
8Rivière, Julie, BSc
9Dannenberg, Hilde, MD
10Petri, Bart-Jeroen, MD
11Komminoth, Paul, Prof
12Pacak, Karel, Prof
13Hop, Wim CJ, PhD
14Pollard, Patrick J, MD
15Mannelli, Massimo, Prof
16Bayley, Jean-Pierre, PhD
17Perren, Aurel, MD
18Niemann, Stephan, PhD
19Verhofstad, Albert A, MD
20de Bruïne, Adriaan P, Prof
21Maher, Eamonn R, Prof
22Tissier, Frédérique, MD
23Méatchi, Tchao, MD
24Badoual, Cécile, MD
25Bertherat, Jérôme, Prof
26Amar, Laurence, MD
27Alataki, Despoina, MD
28Van Marck, Eric, Prof
29Ferrau, Francesco, MD
30François, Jerney, BSc
31de Herder, Wouter W, MD
32Peeters, Mark-Paul FM Vrancken, MD
33van Linge, Anne, MD
34Lenders, Jacques WM, Prof
35Gimenez-Roqueplo, Anne-Paule, Prof
36de Krijger, Ronald R, MD
37Dinjens, Winand NM, Dr
title
0An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis
1The lancet oncology
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descriptionSummary Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma–paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B ( SDHB ), C ( SDHC ), or D ( SDHD ) genes. Clinically, the phaeochromocytoma–paraganglioma syndrome is often unrecognised, although 10–30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH -gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma–paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH -related and non- SDH -related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series. Methods Immunohistochemistry for SDHB was done on 220 tumours. Two retrospective series of 175 phaeochromocytomas and paragangliomas with known germline mutation status for phaeochromocytoma-susceptibility or paraganglioma-susceptibility genes were investigated. Additionally, a prospective series of 45 phaeochromocytomas and paragangliomas was investigated for SDHB immunostaining followed by SDHB, SDHC , and SDHD mutation testing. Findings SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC , or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel–Lindau disease, and neurofibromatosis type 1. 47 (89%) of the 53 phaeochromocytomas and paragangliomas with no syndromic germline mutation showed SDHB expression. The sensitivity and specificity of the SDHB immunohistochemistry to detect the presence of an SDH mutation in the prospective series were 100% (95% CI 87–100) and 84% (60–97), respectively. Interpretation Phaeochromocytoma–paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure. SDHB, SDHC , and SDHD germline mutation testing is indicated only in patients with SDHB-negative tumours. SDHB immunohistochemistry on phaeochromocytomas and paragangliomas could improve the diagnosis of phaeochromocytoma–paraganglioma syndrome. Funding The Netherlands Organisation for Scientific Research, Dutch Cancer Society, Vanderes Foundation, Association pour la Recherche contre le Cancer, Institut National de la Santé et de la Recherche Médicale, and a PHRC grant COMETE 3 for the COMETE network.
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0Adolescent
1Adrenal Gland Neoplasms - diagnosis
2Adrenal Gland Neoplasms - genetics
3Adult
4Aged
5Article
6Blotting, Western
7Child
8Developmental biology
9DNA Mutational Analysis
10endocrine system
11endocrine system diseases
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13Gene mutations
14Genetic aspects
15Genetic research
16Germ-Line Mutation
17Hematology, Oncology and Palliative Medicine
18Human genetics
19Human medicine
20Humans
21Hypertension
22Immunohistochemistry
23Immunohistochemistry - methods
24Male
25Membrane Proteins - genetics
26Middle Aged
27Molecular genetics
28Paraganglioma - diagnosis
29Paraganglioma - genetics
30Pheochromocytoma - diagnosis
31Pheochromocytoma - genetics
32Succinate Dehydrogenase - genetics
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29Ferrau, Francesco, MD
30François, Jerney, BSc
31de Herder, Wouter W, MD
32Peeters, Mark-Paul FM Vrancken, MD
33van Linge, Anne, MD
34Lenders, Jacques WM, Prof
35Gimenez-Roqueplo, Anne-Paule, Prof
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titleAn immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis
authorvan Nederveen, Francien H, MD ; Gaal, José, MD ; Favier, Judith, PhD ; Korpershoek, Esther, BSc ; Oldenburg, Rogier A, MD ; de Bruyn, Elly MCA, BSc ; Sleddens, Hein FBM, BSc ; Derkx, Pieter, BSc ; Rivière, Julie, BSc ; Dannenberg, Hilde, MD ; Petri, Bart-Jeroen, MD ; Komminoth, Paul, Prof ; Pacak, Karel, Prof ; Hop, Wim CJ, PhD ; Pollard, Patrick J, MD ; Mannelli, Massimo, Prof ; Bayley, Jean-Pierre, PhD ; Perren, Aurel, MD ; Niemann, Stephan, PhD ; Verhofstad, Albert A, MD ; de Bruïne, Adriaan P, Prof ; Maher, Eamonn R, Prof ; Tissier, Frédérique, MD ; Méatchi, Tchao, MD ; Badoual, Cécile, MD ; Bertherat, Jérôme, Prof ; Amar, Laurence, MD ; Alataki, Despoina, MD ; Van Marck, Eric, Prof ; Ferrau, Francesco, MD ; François, Jerney, BSc ; de Herder, Wouter W, MD ; Peeters, Mark-Paul FM Vrancken, MD ; van Linge, Anne, MD ; Lenders, Jacques WM, Prof ; Gimenez-Roqueplo, Anne-Paule, Prof ; de Krijger, Ronald R, MD ; Dinjens, Winand NM, Dr
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1Adrenal Gland Neoplasms - diagnosis
2Adrenal Gland Neoplasms - genetics
3Adult
4Aged
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6Blotting, Western
7Child
8Developmental biology
9DNA Mutational Analysis
10endocrine system
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13Gene mutations
14Genetic aspects
15Genetic research
16Germ-Line Mutation
17Hematology, Oncology and Palliative Medicine
18Human genetics
19Human medicine
20Humans
21Hypertension
22Immunohistochemistry
23Immunohistochemistry - methods
24Male
25Membrane Proteins - genetics
26Middle Aged
27Molecular genetics
28Paraganglioma - diagnosis
29Paraganglioma - genetics
30Pheochromocytoma - diagnosis
31Pheochromocytoma - genetics
32Succinate Dehydrogenase - genetics
33Syndrome
34Tumors
35Universities and colleges
36Young Adult
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0peer_reviewed
1online_resources
creatorcontrib
0van Nederveen, Francien H, MD
1Gaal, José, MD
2Favier, Judith, PhD
3Korpershoek, Esther, BSc
4Oldenburg, Rogier A, MD
5de Bruyn, Elly MCA, BSc
6Sleddens, Hein FBM, BSc
7Derkx, Pieter, BSc
8Rivière, Julie, BSc
9Dannenberg, Hilde, MD
10Petri, Bart-Jeroen, MD
11Komminoth, Paul, Prof
12Pacak, Karel, Prof
13Hop, Wim CJ, PhD
14Pollard, Patrick J, MD
15Mannelli, Massimo, Prof
16Bayley, Jean-Pierre, PhD
17Perren, Aurel, MD
18Niemann, Stephan, PhD
19Verhofstad, Albert A, MD
20de Bruïne, Adriaan P, Prof
21Maher, Eamonn R, Prof
22Tissier, Frédérique, MD
23Méatchi, Tchao, MD
24Badoual, Cécile, MD
25Bertherat, Jérôme, Prof
26Amar, Laurence, MD
27Alataki, Despoina, MD
28Van Marck, Eric, Prof
29Ferrau, Francesco, MD
30François, Jerney, BSc
31de Herder, Wouter W, MD
32Peeters, Mark-Paul FM Vrancken, MD
33van Linge, Anne, MD
34Lenders, Jacques WM, Prof
35Gimenez-Roqueplo, Anne-Paule, Prof
36de Krijger, Ronald R, MD
37Dinjens, Winand NM, Dr
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jtitleThe lancet oncology
delivery
delcategoryRemote Search Resource
fulltextfulltext
addata
au
0van Nederveen, Francien H, MD
1Gaal, José, MD
2Favier, Judith, PhD
3Korpershoek, Esther, BSc
4Oldenburg, Rogier A, MD
5de Bruyn, Elly MCA, BSc
6Sleddens, Hein FBM, BSc
7Derkx, Pieter, BSc
8Rivière, Julie, BSc
9Dannenberg, Hilde, MD
10Petri, Bart-Jeroen, MD
11Komminoth, Paul, Prof
12Pacak, Karel, Prof
13Hop, Wim CJ, PhD
14Pollard, Patrick J, MD
15Mannelli, Massimo, Prof
16Bayley, Jean-Pierre, PhD
17Perren, Aurel, MD
18Niemann, Stephan, PhD
19Verhofstad, Albert A, MD
20de Bruïne, Adriaan P, Prof
21Maher, Eamonn R, Prof
22Tissier, Frédérique, MD
23Méatchi, Tchao, MD
24Badoual, Cécile, MD
25Bertherat, Jérôme, Prof
26Amar, Laurence, MD
27Alataki, Despoina, MD
28Van Marck, Eric, Prof
29Ferrau, Francesco, MD
30François, Jerney, BSc
31de Herder, Wouter W, MD
32Peeters, Mark-Paul FM Vrancken, MD
33van Linge, Anne, MD
34Lenders, Jacques WM, Prof
35Gimenez-Roqueplo, Anne-Paule, Prof
36de Krijger, Ronald R, MD
37Dinjens, Winand NM, Dr
formatjournal
genrearticle
ristypeJOUR
atitleAn immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC , or SDHD gene mutations: a retrospective and prospective analysis
jtitleThe lancet oncology
addtitleLancet Oncol
date2009
risdate2009
volume10
issue8
spage764
epage771
pages764-771
issn1470-2045
eissn1474-5488
codenLANCAO
notes
0These authors should be considered equal last authors
1These authors contributed equally to the paper
2Dr Verhofstad died in March, 2008
abstractSummary Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma–paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B ( SDHB ), C ( SDHC ), or D ( SDHD ) genes. Clinically, the phaeochromocytoma–paraganglioma syndrome is often unrecognised, although 10–30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH -gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma–paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH -related and non- SDH -related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series. Methods Immunohistochemistry for SDHB was done on 220 tumours. Two retrospective series of 175 phaeochromocytomas and paragangliomas with known germline mutation status for phaeochromocytoma-susceptibility or paraganglioma-susceptibility genes were investigated. Additionally, a prospective series of 45 phaeochromocytomas and paragangliomas was investigated for SDHB immunostaining followed by SDHB, SDHC , and SDHD mutation testing. Findings SDHB protein expression was absent in all 102 phaeochromocytomas and paragangliomas with an SDHB, SDHC , or SDHD mutation, but was present in all 65 paraganglionic tumours related to multiple endocrine neoplasia type 2, von Hippel–Lindau disease, and neurofibromatosis type 1. 47 (89%) of the 53 phaeochromocytomas and paragangliomas with no syndromic germline mutation showed SDHB expression. The sensitivity and specificity of the SDHB immunohistochemistry to detect the presence of an SDH mutation in the prospective series were 100% (95% CI 87–100) and 84% (60–97), respectively. Interpretation Phaeochromocytoma–paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure. SDHB, SDHC , and SDHD germline mutation testing is indicated only in patients with SDHB-negative tumours. SDHB immunohistochemistry on phaeochromocytomas and paragangliomas could improve the diagnosis of phaeochromocytoma–paraganglioma syndrome. Funding The Netherlands Organisation for Scientific Research, Dutch Cancer Society, Vanderes Foundation, Association pour la Recherche contre le Cancer, Institut National de la Santé et de la Recherche Médicale, and a PHRC grant COMETE 3 for the COMETE network.
copEngland
pubElsevier Ltd
pmid19576851
doi10.1016/S1470-2045(09)70164-0
oafree_for_read