Joakim Crona
Joakim Crona
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Joakim Crona in
Google Scholar
PubMed
Search for other papers by Joakim Crona in
Google Scholar
PubMed
Alberto Delgado Verdugo
Alberto Delgado Verdugo
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Alberto Delgado Verdugo in
Google Scholar
PubMed
Search for other papers by Alberto Delgado Verdugo in
Google Scholar
PubMed
Dan Granberg
Dan Granberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Dan Granberg in
Google Scholar
PubMed
Search for other papers by Dan Granberg in
Google Scholar
PubMed
Staffan Welin
Staffan Welin
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Staffan Welin in
Google Scholar
PubMed
Search for other papers by Staffan Welin in
Google Scholar
PubMed
Peter Stålberg
Peter Stålberg
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Peter Stålberg in
Google Scholar
PubMed
Search for other papers by Peter Stålberg in
Google Scholar
PubMed
Per Hellman
Per Hellman
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Per Hellman in
Google Scholar
PubMed
Search for other papers by Per Hellman in
Google Scholar
PubMed
Peyman Björklund
Peyman Björklund
Departments of Surgical Sciences, Medical Sciences, Uppsala University, S-751 85 Uppsala, Sweden
Search for other papers by Peyman Björklund in
Google Scholar
PubMed
Search for other papers by Peyman Björklund in
Google Scholar
PubMed
such guidelines, has been mainly excused by cost–benefit explanations. Introduction of novel sequencing techniques (denoted next-generation sequencing or NGS) has dramatically reduced the cost for DNA sequencing (14) . The term NGS includes principally
M I Stamou
M I Stamou
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
Search for other papers by M I Stamou in
Google Scholar
PubMed
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Mount Auburn Hospital, Harvard Medical School Teaching Hospital, Cambridge, Massachusetts, USA
Search for other papers by M I Stamou in
Google Scholar
PubMed
P Varnavas
P Varnavas
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Search for other papers by P Varnavas in
Google Scholar
PubMed
Search for other papers by P Varnavas in
Google Scholar
PubMed
L Plummer
L Plummer
Harvard Reproductive Sciences Center, Massachusetts General Hospital, Boston, Massachusetts, USA
Search for other papers by L Plummer in
Google Scholar
PubMed
Search for other papers by L Plummer in
Google Scholar
PubMed
V Koika
V Koika
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Search for other papers by V Koika in
Google Scholar
PubMed
Search for other papers by V Koika in
Google Scholar
PubMed
N A Georgopoulos
N A Georgopoulos
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University Regional Hospital of Patras, Rio, Greece
Search for other papers by N A Georgopoulos in
Google Scholar
PubMed
Search for other papers by N A Georgopoulos in
Google Scholar
PubMed
expression of the IGD phenotype in this ethnic subpopulation ( 1 ). Given that next-generation sequencing (NGS) has emerged a huge number of genes and variation in multiple diseases and disorders, we utilized whole exome sequencing (WES) to examine if
L A Hughes
L A Hughes
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by L A Hughes in
Google Scholar
PubMed
Search for other papers by L A Hughes in
Google Scholar
PubMed
K McKay-Bounford
K McKay-Bounford
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by K McKay-Bounford in
Google Scholar
PubMed
Search for other papers by K McKay-Bounford in
Google Scholar
PubMed
E A Webb
E A Webb
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by E A Webb in
Google Scholar
PubMed
Search for other papers by E A Webb in
Google Scholar
PubMed
P Dasani
P Dasani
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by P Dasani in
Google Scholar
PubMed
Search for other papers by P Dasani in
Google Scholar
PubMed
S Clokie
S Clokie
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by S Clokie in
Google Scholar
PubMed
Search for other papers by S Clokie in
Google Scholar
PubMed
H Chandran
H Chandran
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by H Chandran in
Google Scholar
PubMed
Search for other papers by H Chandran in
Google Scholar
PubMed
L McCarthy
L McCarthy
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by L McCarthy in
Google Scholar
PubMed
Search for other papers by L McCarthy in
Google Scholar
PubMed
Z Mohamed
Z Mohamed
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by Z Mohamed in
Google Scholar
PubMed
Search for other papers by Z Mohamed in
Google Scholar
PubMed
J M W Kirk
J M W Kirk
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by J M W Kirk in
Google Scholar
PubMed
Search for other papers by J M W Kirk in
Google Scholar
PubMed
N P Krone
N P Krone
Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK
Search for other papers by N P Krone in
Google Scholar
PubMed
Search for other papers by N P Krone in
Google Scholar
PubMed
S Allen
S Allen
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by S Allen in
Google Scholar
PubMed
Search for other papers by S Allen in
Google Scholar
PubMed
T R P Cole
T R P Cole
West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Search for other papers by T R P Cole in
Google Scholar
PubMed
Search for other papers by T R P Cole in
Google Scholar
PubMed
led to the use of targeted next generation sequencing (NGS) assays. These enable multiple known disease-causative genes to be sequenced in parallel alongside initial clinical assessment and biochemical investigations, potentially avoiding the need for
Xu-Feng Chen
Xu-Feng Chen
X Chen, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Xu-Feng Chen in
Google Scholar
PubMed
Search for other papers by Xu-Feng Chen in
Google Scholar
PubMed
Cong He
Cong He
C He, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Cong He in
Google Scholar
PubMed
Search for other papers by Cong He in
Google Scholar
PubMed
Peng-Cheng Yu
Peng-Cheng Yu
P Yu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Peng-Cheng Yu in
Google Scholar
PubMed
Search for other papers by Peng-Cheng Yu in
Google Scholar
PubMed
Wei-Dong Ye
Wei-Dong Ye
W Ye, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Wei-Dong Ye in
Google Scholar
PubMed
Search for other papers by Wei-Dong Ye in
Google Scholar
PubMed
Peizhen Han
Peizhen Han
P Han, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Peizhen Han in
Google Scholar
PubMed
Search for other papers by Peizhen Han in
Google Scholar
PubMed
Jia-Qian Hu
Jia-Qian Hu
J Hu, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Jia-Qian Hu in
Google Scholar
PubMed
Search for other papers by Jia-Qian Hu in
Google Scholar
PubMed
Yulong Wang
Yulong Wang
Y Wang, Department of Head and Neck Surgery, Fudan University Shanghai Cancer Center, Shanghai, China
Search for other papers by Yulong Wang in
Google Scholar
PubMed
Search for other papers by Yulong Wang in
Google Scholar
PubMed
Next-generation sequencing (NGS) is of great benefit to clinical practice in terms of identifying genetic alterations. This study aims to clarify the gene background and its influence on thyroid tumor in Chinese population. NGS data and corresponding clinicopathological features (sex, age, tumor size, extrathyroidal invasion, metastasis, multifocality and TNM stage) were collected and analyzed retrospectively from 2844 individual thyroid tumor samples during July 2021 to August 2022. 2337 (82%) of the cohort possess genetic alterations including BRAF (71%), RAS (4%), RET/PTC (4%), TERT (3%), RET (2.2%) and TP53 (1.4%). Diagnostic sensitivity before surgery can be significantly increased from 0.76 to 0.91 when cytology is supplemented by NGS. Our results show that BRAF positive papillary thyroid cancer (PTC) patients tend to have elder age, smaller tumor size, less vascular invasion, more frequent tumor multifocality and significantly higher cervical lymph node metastatic rate. Mutation at RET gene codon 918 and 634 is strongly correlated with medullary thyroid cancer (MTC), However it did not display more invasive clinical characteristics. TERT positive patients are more likely to have elder age, larger tumor size, more tumor invasiveness, and more advanced TNM stage, indicating poor prognosis. Patients with TERT, RET/PTC1 and CHEK2 mutation are more susceptible to lateral lymph node metastasis. In conclusion. NGS can be a useful tool which provides practical gene evidence in the process of diagnosis and treatment in thyroid tumors.
Tiemo S Gerber
Tiemo S Gerber
Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany
Search for other papers by Tiemo S Gerber in
Google Scholar
PubMed
Search for other papers by Tiemo S Gerber in
Google Scholar
PubMed
Arno Schad
Arno Schad
Department of Pathology, University Medicine, Mainz, Germany
Search for other papers by Arno Schad in
Google Scholar
PubMed
Search for other papers by Arno Schad in
Google Scholar
PubMed
Nils Hartmann
Nils Hartmann
Department of Pathology, University Medicine, Mainz, Germany
Search for other papers by Nils Hartmann in
Google Scholar
PubMed
Search for other papers by Nils Hartmann in
Google Scholar
PubMed
Erik Springer
Erik Springer
Department of Pathology, University Medicine, Mainz, Germany
Search for other papers by Erik Springer in
Google Scholar
PubMed
Search for other papers by Erik Springer in
Google Scholar
PubMed
Ulrich Zechner
Ulrich Zechner
Institute of Human Genetics, University Medicine, Mainz, Germany
Search for other papers by Ulrich Zechner in
Google Scholar
PubMed
Search for other papers by Ulrich Zechner in
Google Scholar
PubMed
Thomas J Musholt
Thomas J Musholt
Endocrine Surgery Section, Department of General, Visceral and Transplantation Surgery, University Medicine, Mainz, Germany
Search for other papers by Thomas J Musholt in
Google Scholar
PubMed
Search for other papers by Thomas J Musholt in
Google Scholar
PubMed
alternatives such as targeted therapies. Although Landa and coworkers ( 1 ) as well as Xu and Ghossein ( 8 ) reported an extensive investigation on PDTC, we still need to learn more about the driving molecular alterations. Using a next-generation sequencing
A Bergougnoux
A Bergougnoux
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Search for other papers by A Bergougnoux in
Google Scholar
PubMed
Search for other papers by A Bergougnoux in
Google Scholar
PubMed
L Gaspari
L Gaspari
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by L Gaspari in
Google Scholar
PubMed
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by L Gaspari in
Google Scholar
PubMed
M Soleirol
M Soleirol
Département de Pediatrie, CHU Nîmes, France, Université de Montpellier Faculté de Médecine Montpellier-Nîmes, Montpellier, France
Search for other papers by M Soleirol in
Google Scholar
PubMed
Search for other papers by M Soleirol in
Google Scholar
PubMed
N Servant
N Servant
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Search for other papers by N Servant in
Google Scholar
PubMed
Search for other papers by N Servant in
Google Scholar
PubMed
S Soskin
S Soskin
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
Search for other papers by S Soskin in
Google Scholar
PubMed
Search for other papers by S Soskin in
Google Scholar
PubMed
S Rossignol
S Rossignol
Département de Pédiatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France
Search for other papers by S Rossignol in
Google Scholar
PubMed
Search for other papers by S Rossignol in
Google Scholar
PubMed
K Wagner-Mahler
K Wagner-Mahler
Département de Pédiatrie, CHU Nice, Hôpitaux Pédiatriques de Nice CHU-Lenval, Nice, France
Search for other papers by K Wagner-Mahler in
Google Scholar
PubMed
Search for other papers by K Wagner-Mahler in
Google Scholar
PubMed
J Bertherat
J Bertherat
Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, Hôpital Cochin, Université Paris Cité, Institut Cochin, Assitance Publique-Hôpitaux de Paris, Paris, France
Search for other papers by J Bertherat in
Google Scholar
PubMed
Search for other papers by J Bertherat in
Google Scholar
PubMed
C Sultan
C Sultan
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
Search for other papers by C Sultan in
Google Scholar
PubMed
Search for other papers by C Sultan in
Google Scholar
PubMed
N Kalfa
N Kalfa
Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France
Search for other papers by N Kalfa in
Google Scholar
PubMed
Search for other papers by N Kalfa in
Google Scholar
PubMed
F Paris
F Paris
Service de Génétique Moléculaire et de Cytogénétique, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier, Montpellier, France
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by F Paris in
Google Scholar
PubMed
Département d'Endocrinologie et de Gynécologie Pédiatrique, Hôpital Arnaud de Villeneuve, Université de Montpellier, Montpellier, France
INSERM Unité 1203 (DEFE), Université de Montpellier, Montpellier, France
Search for other papers by F Paris in
Google Scholar
PubMed
observation of pubertal virilization in the context of CAIS led to complete the genetic analysis by next-generation sequencing (NGS) of genes implicated in DSD. Mutations in these genes have been associated with sexual determination/differentiation alterations
Yijun Tang
Yijun Tang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Yijun Tang in
Google Scholar
PubMed
Search for other papers by Yijun Tang in
Google Scholar
PubMed
Yao Chen
Yao Chen
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Yao Chen in
Google Scholar
PubMed
Search for other papers by Yao Chen in
Google Scholar
PubMed
Jiayi Wang
Jiayi Wang
Department of Urology, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Jiayi Wang in
Google Scholar
PubMed
Search for other papers by Jiayi Wang in
Google Scholar
PubMed
Qianwen Zhang
Qianwen Zhang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Qianwen Zhang in
Google Scholar
PubMed
Search for other papers by Qianwen Zhang in
Google Scholar
PubMed
Yirou Wang
Yirou Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Yirou Wang in
Google Scholar
PubMed
Search for other papers by Yirou Wang in
Google Scholar
PubMed
Yufei Xu
Yufei Xu
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Yufei Xu in
Google Scholar
PubMed
Search for other papers by Yufei Xu in
Google Scholar
PubMed
Xin Li
Xin Li
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Xin Li in
Google Scholar
PubMed
Search for other papers by Xin Li in
Google Scholar
PubMed
Jian Wang
Jian Wang
International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Jian Wang in
Google Scholar
PubMed
Search for other papers by Jian Wang in
Google Scholar
PubMed
Xiumin Wang
Xiumin Wang
Department of Endocrinology and Metabolism, Shanghai Children’s Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China
Search for other papers by Xiumin Wang in
Google Scholar
PubMed
Search for other papers by Xiumin Wang in
Google Scholar
PubMed
46,XY DSD patients between 2016 and 2022 and compare the efficiency of two different next-generation sequencing (NGS) methods, targeted gene panel sequencing (TPS), and whole-exome sequencing (WES). Through analysis and discussion of sequencing
Ja Hye Kim
Ja Hye Kim
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Ja Hye Kim in
Google Scholar
PubMed
Search for other papers by Ja Hye Kim in
Google Scholar
PubMed
Yunha Choi
Yunha Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Yunha Choi in
Google Scholar
PubMed
Search for other papers by Yunha Choi in
Google Scholar
PubMed
Soojin Hwang
Soojin Hwang
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Soojin Hwang in
Google Scholar
PubMed
Search for other papers by Soojin Hwang in
Google Scholar
PubMed
Ji-Hee Yoon
Ji-Hee Yoon
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Ji-Hee Yoon in
Google Scholar
PubMed
Search for other papers by Ji-Hee Yoon in
Google Scholar
PubMed
Jieun Lee
Jieun Lee
Department of Pediatrics, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea
Search for other papers by Jieun Lee in
Google Scholar
PubMed
Search for other papers by Jieun Lee in
Google Scholar
PubMed
Min Jae Kang
Min Jae Kang
Department of Pediatrics, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Korea
Search for other papers by Min Jae Kang in
Google Scholar
PubMed
Search for other papers by Min Jae Kang in
Google Scholar
PubMed
Gu-Hwan Kim
Gu-Hwan Kim
Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Gu-Hwan Kim in
Google Scholar
PubMed
Search for other papers by Gu-Hwan Kim in
Google Scholar
PubMed
Han-Wook Yoo
Han-Wook Yoo
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Han-Wook Yoo in
Google Scholar
PubMed
Search for other papers by Han-Wook Yoo in
Google Scholar
PubMed
Jin-Ho Choi
Jin-Ho Choi
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Search for other papers by Jin-Ho Choi in
Google Scholar
PubMed
Search for other papers by Jin-Ho Choi in
Google Scholar
PubMed
of smell in approximately 50% of patients, referred to as normosmic isolated hypogonadotropic hypogonadism (nIHH) ( 3 ). With recent advances in next-generation sequencing (NGS) techniques, more than 60 causative genes for IGD with a diverse mode of
Catherine Cardot Bauters
Catherine Cardot Bauters
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
Search for other papers by Catherine Cardot Bauters in
Google Scholar
PubMed
Search for other papers by Catherine Cardot Bauters in
Google Scholar
PubMed
Emmanuelle Leteurtre
Emmanuelle Leteurtre
Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
Search for other papers by Emmanuelle Leteurtre in
Google Scholar
PubMed
Search for other papers by Emmanuelle Leteurtre in
Google Scholar
PubMed
Bruno Carnaille
Bruno Carnaille
CHU Lille, Service de Chirurgie Endocrine, Hôpital Claude Huriez, Lille, France
Search for other papers by Bruno Carnaille in
Google Scholar
PubMed
Search for other papers by Bruno Carnaille in
Google Scholar
PubMed
Christine Do Cao
Christine Do Cao
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
Search for other papers by Christine Do Cao in
Google Scholar
PubMed
Search for other papers by Christine Do Cao in
Google Scholar
PubMed
Stéphanie Espiard
Stéphanie Espiard
CHU Lille, Service d’Endocrinologie, Diabétologie, Métabolisme-Nutrition, Hôpital Claude Huriez, Lille, France
Search for other papers by Stéphanie Espiard in
Google Scholar
PubMed
Search for other papers by Stéphanie Espiard in
Google Scholar
PubMed
Malo Penven
Malo Penven
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Malo Penven in
Google Scholar
PubMed
Search for other papers by Malo Penven in
Google Scholar
PubMed
Evelyne Destailleur
Evelyne Destailleur
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Evelyne Destailleur in
Google Scholar
PubMed
Search for other papers by Evelyne Destailleur in
Google Scholar
PubMed
Isabelle Szuster
Isabelle Szuster
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Isabelle Szuster in
Google Scholar
PubMed
Search for other papers by Isabelle Szuster in
Google Scholar
PubMed
Tonio Lovecchio
Tonio Lovecchio
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Tonio Lovecchio in
Google Scholar
PubMed
Search for other papers by Tonio Lovecchio in
Google Scholar
PubMed
Julie Leclerc
Julie Leclerc
Univ. Lille, Inserm, CHU Lille, UMR-S 1277-CANTHER, Cancer Heterogeneity, Plasticity & Resistance to Therapies, Lille, France
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Julie Leclerc in
Google Scholar
PubMed
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Julie Leclerc in
Google Scholar
PubMed
Fredéric Frénois
Fredéric Frénois
Univ. Lille, CHU Lille, EA-7364 RADEME, Faculté de Médecine, Lille, France
Search for other papers by Fredéric Frénois in
Google Scholar
PubMed
Search for other papers by Fredéric Frénois in
Google Scholar
PubMed
Emmanuel Esquivel
Emmanuel Esquivel
Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
Search for other papers by Emmanuel Esquivel in
Google Scholar
PubMed
Search for other papers by Emmanuel Esquivel in
Google Scholar
PubMed
Patricia L M Dahia
Patricia L M Dahia
Dept Medicine, Mays Cancer Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
Search for other papers by Patricia L M Dahia in
Google Scholar
PubMed
Search for other papers by Patricia L M Dahia in
Google Scholar
PubMed
Emilie Ait-Yahya
Emilie Ait-Yahya
CHU Lille, Institut de Biochimie & Biologie Moléculaire, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Emilie Ait-Yahya in
Google Scholar
PubMed
Search for other papers by Emilie Ait-Yahya in
Google Scholar
PubMed
Michel Crépin
Michel Crépin
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Michel Crépin in
Google Scholar
PubMed
Search for other papers by Michel Crépin in
Google Scholar
PubMed
Pascal Pigny
Pascal Pigny
CHU Lille, Service de Biochimie Hormonologie, Métabolisme, Nutrition-Oncologie, Centre de Biologie Pathologie Génétique, Lille, France
Search for other papers by Pascal Pigny in
Google Scholar
PubMed
Search for other papers by Pascal Pigny in
Google Scholar
PubMed
in patients with PCC or PGL by next-generation sequencing to identify familial tumors. Welander et al. ( 7 ) described one PCC patient with a germline variant of KIF1B classified as disease-causing in their cohort thus representing a prevalence of
Arnaud Lagarde
Arnaud Lagarde
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
Search for other papers by Arnaud Lagarde in
Google Scholar
PubMed
Search for other papers by Arnaud Lagarde in
Google Scholar
PubMed
Grégory Mougel
Grégory Mougel
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
Search for other papers by Grégory Mougel in
Google Scholar
PubMed
Search for other papers by Grégory Mougel in
Google Scholar
PubMed
Lucie Coppin
Lucie Coppin
Univ. Lille, CNRS, Inserm, CHU Lille, UMR9020-U1277 – CANTHER – Cancer – Heterogeneity Plasticity and Resistance to Therapies, Lille, France
Search for other papers by Lucie Coppin in
Google Scholar
PubMed
Search for other papers by Lucie Coppin in
Google Scholar
PubMed
Magalie Haissaguerre
Magalie Haissaguerre
Service d’Endocrinologie, Centre Hospitalier Universitaire, Hôpital du Haut Levêque, Pessac, France
Search for other papers by Magalie Haissaguerre in
Google Scholar
PubMed
Search for other papers by Magalie Haissaguerre in
Google Scholar
PubMed
Lauriane Le Collen
Lauriane Le Collen
Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France
Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
Search for other papers by Lauriane Le Collen in
Google Scholar
PubMed
Inserm/CNRS UMR 1283/8199, Pasteur Institute of Lille, EGID, Lille, France
Search for other papers by Lauriane Le Collen in
Google Scholar
PubMed
Amira Mohamed
Amira Mohamed
Laboratory of Molecular Biology, Hospital La Conception, APHM, Marseille, France
Search for other papers by Amira Mohamed in
Google Scholar
PubMed
Search for other papers by Amira Mohamed in
Google Scholar
PubMed
Marc Klein
Marc Klein
Service Endocrinologie, CHU de Nancy, Hôpital de Brabois, Vandoeuvre-lès-Nancy, France
Search for other papers by Marc Klein in
Google Scholar
PubMed
Search for other papers by Marc Klein in
Google Scholar
PubMed
Marie-Françoise Odou
Marie-Françoise Odou
CHU Lille, Service de Biochimie et Biologie Moléculaire ‘Hormonologie, Métabolisme-Nutrition, Oncologie’, Lille, France
Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
Search for other papers by Marie-Françoise Odou in
Google Scholar
PubMed
Univ. Lille, Inserm, CHU Lille, U1286 – Infinite – Institute for Translational Research in Inflammation, Lille, France
Search for other papers by Marie-Françoise Odou in
Google Scholar
PubMed
Antoine Tabarin
Antoine Tabarin
Service d’Endocrinologie, Centre Hospitalier Universitaire, Hôpital du Haut Levêque, Pessac, France
Search for other papers by Antoine Tabarin in
Google Scholar
PubMed
Search for other papers by Antoine Tabarin in
Google Scholar
PubMed
Hedia Brixi
Hedia Brixi
Department of Gastroenterology and Digestive Oncology, Reims University Hospital, Reims, France
Search for other papers by Hedia Brixi in
Google Scholar
PubMed
Search for other papers by Hedia Brixi in
Google Scholar
PubMed
Thomas Cuny
Thomas Cuny
Aix Marseille Univ, APHM, INSERM, MMG, Department of Endocrinology, Hospital La Conception, Marseille, France
Search for other papers by Thomas Cuny in
Google Scholar
PubMed
Search for other papers by Thomas Cuny in
Google Scholar
PubMed
Brigitte Delemer
Brigitte Delemer
Endocrinology, Diabetology and Nutrition Unit, University Hospital of Reims, Reims, France
Search for other papers by Brigitte Delemer in
Google Scholar
PubMed
Search for other papers by Brigitte Delemer in
Google Scholar
PubMed
Anne Barlier
Anne Barlier
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
Search for other papers by Anne Barlier in
Google Scholar
PubMed
Search for other papers by Anne Barlier in
Google Scholar
PubMed
Pauline Romanet
Pauline Romanet
Aix Marseille Univ, APHM, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France
Search for other papers by Pauline Romanet in
Google Scholar
PubMed
Search for other papers by Pauline Romanet in
Google Scholar
PubMed
mosaicism have been reported to date ( 12 , 13 , 14 , 15 , 16 ). Indeed, identification of MEN1 mosaicism remains challenging in the routine practice of diagnosis laboratories and consequently is not systematically performed. Next-generation sequencing
