Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

Neurofibromatosis type 1

(2017) David H. Gutmann et al.   Nature Reviews Disease Primers

Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention

(2017) Birke Bausch et al.   JAMA Oncology

Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

(2017) Malgorzata Oczko-Wojciechowska et al.   Scientific Reports

GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism

(2016) Bin Guan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1

(2016) Lucinda M. Gruber et al.   CLINICAL ENDOCRINOLOGY

Pheochromocytomas are diagnosed incidentally and at older age in neurofibromatosis type 1

(2016) Jessica Moramarco et al.   CLINICAL ENDOCRINOLOGY

Interest of systematic screening of pheochromocytoma in patients with neurofibromatosis type 1

(2016) Lori Képénékian et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

(2016) Rosa Vargas-Poussou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis

(2016) Esther Korpershoek et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Genetics of parathyroid tumours

(2016) R. V. Thakker   JOURNAL OF INTERNAL MEDICINE

Novel SDHB and TMEM127 Mutations in Patients with Pheochromocytoma/Paraganglioma Syndrome

(2016) Attila Patócs et al.   PATHOLOGY & ONCOLOGY RESEARCH

Parathyroid carcinoma and atypical parathyroid neoplasms in MEN1 patients; A clinico-pathologic challenge. The MD Anderson case series and review of the literature

(2016) Ioannis Christakis et al.   International Journal of Surgery

Management of the Parathyroid Glands During Preventive Thyroidectomy in Patients With Multiple Endocrine Neoplasia Type 2

(2015) Jeffrey F. Moley et al.   ANNALS OF SURGERY

15 YEARS OF PARAGANGLIOMA: Imaging and imaging-based treatment of pheochromocytoma and paraganglioma

(2015) Frédéric Castinetti et al.   ENDOCRINE-RELATED CANCER

MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma

(2015) Frédéric Castinetti et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

MEN1 Disease Occurring Before 21 Years Old: A 160-Patient Cohort Study From the Groupe d'étude des Tumeurs Endocrines

(2015) P. Goudet et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Penetrance and Clinical Features of Pheochromocytoma in a Six-Generation Family Carrying a GermlineTMEM127Mutation

(2015) Sergio P. A. Toledo et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients

(2015) Maria Currás-Freixes et al.   JOURNAL OF MEDICAL GENETICS

Functional and in silico assessment of MAX variants of unknown significance

(2015) Iñaki Comino-Méndez et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

The Role of Radionuclide Imaging in the Surgical Management of Primary Hyperparathyroidism

(2015) E. Hindie et al.   JOURNAL OF NUCLEAR MEDICINE

Hereditary hyperparathyroidism—a consensus report of the European Society of Endocrine Surgeons (ESES)

(2015) Maurizio Iacobone et al.   LANGENBECKS ARCHIVES OF SURGERY

Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma

(2015) Samuel A. Wells et al.   THYROID

Familial pheochromocytoma and renal cell carcinoma syndrome: TMEM127 as a novel candidate gene for the association

(2015) Karen Gomez Hernandez et al.   VIRCHOWS ARCHIV

Pheochromocytoma in Neurofibromatosis Type 1: When Should it Be Suspected?

(2014) Myrick Shinall et al.   Endocrine Practice

Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations

(2014) Viviane C Longuini et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Role of RET genetic variants in MEN2-associated pheochromocytoma

(2014) Débora Rodrigues Siqueira et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Primary Hyperparathyroidism in Young People. When Should We Perform Genetic Testing for Multiple Endocrine Neoplasia 1 (MEN-1)?

(2014) T. Lassen et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Rare Germline Mutations Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma

(2014) Jenny Welander et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline

(2014) Jacques W. M. Lenders et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study

(2014) Frederic Castinetti et al.   LANCET ONCOLOGY

Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome

(2014) Esther Korpershoek et al.   NEOPLASIA

Testing new susceptibility genes in the cohort of apparently sporadic phaeochromocytoma/paraganglioma patients with clinical characteristics of hereditary syndromes

(2013) Mariola Pęczkowska et al.   CLINICAL ENDOCRINOLOGY

High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

(2013) Tsuneo Imai et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Novel mutation in theTMEM127gene associated with phaeochromocytoma

(2013) M. S. Elston et al.   INTERNAL MEDICINE JOURNAL

The Characterization of Pheochromocytoma and Its Impact on Overall Survival in Multiple Endocrine Neoplasia Type 2

(2013) Sonali Thosani et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update

(2013) Samuel A. Wells et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

(2013) Eleanor Rattenberry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Peak Incidence of Pheochromocytoma and Primary Hyperparathyroidism in Multiple Endocrine Neoplasia 2: Need for Age-Adjusted Biochemical Screening

(2013) Andreas Machens et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Frequent Large GermlineHRPT2Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

(2013) Léopoldine Bricaire et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pheochromocytoma in an 8-year-old patient with multiple endocrine neoplasia type 2A: Implications for screening

(2013) Kathryn J. Rowland et al.   JOURNAL OF SURGICAL ONCOLOGY

Long-Term Outcomes of Surgical Treatment for Hereditary Pheochromocytoma

(2013) Elizabeth G. Grubbs et al.   JOURNAL OF THE AMERICAN COLLEGE OF SURGEONS

Hypoxia-Inducible Factor Signaling in Pheochromocytoma: Turning the Rudder in the Right Direction

(2013) I. Jochmanova et al.   JNCI-Journal of the National Cancer Institute

Precursor lesions of endocrine system neoplasms

(2013) Ozgur Mete et al.   PATHOLOGY

Genetics of pheochromocytoma and paraganglioma syndromes

(2013) Ales Vicha et al.   Current Opinion in Endocrinology Diabetes and Obesity

MAX and MYC: A Heritable Breakup

(2012) A. Cascon et al.   CANCER RESEARCH

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

(2012) N. Burnichon et al.   CLINICAL CANCER RESEARCH

Identical germline mutations in theTMEM127gene in two unrelated Japanese patients with bilateral pheochromocytoma

(2012) Naomi Takeichi et al.   CLINICAL ENDOCRINOLOGY

EANM 2012 guidelines for radionuclide imaging of phaeochromocytoma and paraganglioma

(2012) David Taïeb et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

An Update on the Genetics of Paraganglioma, Pheochromocytoma, and Associated Hereditary Syndromes

(2012) A.-P. Gimenez-Roqueplo et al.   HORMONE AND METABOLIC RESEARCH

TMEM127Screening in a Large Cohort of Patients with Pheochromocytoma and/or Paraganglioma

(2012) Nassera Abermil et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical Practice Guidelines for Multiple Endocrine Neoplasia Type 1 (MEN1)

(2012) Rajesh V. Thakker et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Measurements of Plasma Methoxytyramine, Normetanephrine, and Metanephrine as Discriminators of Different Hereditary Forms of Pheochromocytoma

(2011) G. Eisenhofer et al.   CLINICAL CHEMISTRY

Minireview: The Busy Road to Pheochromocytomas and Paragangliomas Has a New Member, TMEM127

(2011) Shoulei Jiang et al.   ENDOCRINOLOGY

Hemodynamic instability during resection of pheochromocytoma in MEN versus non-MEN patients

(2011) Anouk Scholten et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Germline Mutations of theTMEM127Gene in Patients with Paraganglioma of Head and Neck and Extraadrenal Abdominal Sites

(2011) Hartmut P. H. Neumann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Timing of Total Thyroidectomy inRETGene Mutation Carriers Could Be Personalized and Safely Planned on the Basis of Serum Calcitonin: 18 Years Experience at One Single Center

(2011) Rossella Elisei et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

(2011) Iñaki Comino-Méndez et al.   NATURE GENETICS

Primary Hyperparathyroidism as the First Clinical Manifestation of Multiple Endocrine Neoplasia Type 2A in a 5-Year-Old Child

(2011) Patrícia Künzle Ribeiro Magalhães et al.   THYROID

VHL Disease

(2010) Marta Barontini et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Evolution of Surgical Treatment of Primary Hyperparathyroidism in Patients with Multiple Endocrine Neoplasia Type 2A

(2010) Anouk Scholten et al.   Endocrine Practice

Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

(2010) Karin Frank-Raue et al.   HUMAN MUTATION

Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas

(2010) Li Yao et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

New imaging approaches to phaeochromocytomas and paragangliomas

(2009) Bas Havekes et al.   CLINICAL ENDOCRINOLOGY

Long Term Parathyroid Function Following Total Parathyroidectomy with Autotransplantation in Adult Patients with MEN2A

(2009) Shigeru YOSHIDA et al.   ENDOCRINE JOURNAL

2009 EANM parathyroid guidelines

(2009) Elif Hindié et al.   EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation

(2009) Caterina Mian et al.   Familial Cancer

Comparison of18F-Fluoro-L-DOPA,18F-Fluoro-Deoxyglucose, and18F-Fluorodopamine PET and123I-MIBG Scintigraphy in the Localization of Pheochromocytoma and Paraganglioma

(2009) Henri J. L. M. Timmers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Rare Germline Mutations in Cyclin-Dependent Kinase Inhibitor Genes in Multiple Endocrine Neoplasia Type 1 and Related States

(2009) Sunita K. Agarwal et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Efficacy of 4D-CT Preoperative Localization in 2 Patients with MEN 2A

(2008) Maria Philip et al.   Journal of Surgical Education

Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations

(2008) Marta S. Sarquis et al.   SURGERY