Cargando…

Features of Multiple Endocrine Neoplasia Type 1 and 2A in a Patient with Both RET and MEN1 Germline Mutations

The coexistence of multiple endocrine neoplasia type 1 (MEN1) and type 2A (MEN2A) is a rare occurrence and has been reported only twice in the literature. We present a patient with primary hyperparathyroidism and medullary thyroid cancer with strong family history of both MEN1- and MEN2A-associated...

Descripción completa

Detalles Bibliográficos
Autores principales:	Brown, Spandana J, Riconda, Daniel L, Zheng, Feibi, Jackson, Gilchrist L, Suo, Liye, Robbins, Richard J
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7067549/ https://www.ncbi.nlm.nih.gov/pubmed/32190804 http://dx.doi.org/10.1210/jendso/bvaa020

Ejemplares similares

Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2
por: Hansen, Anna Reimer, et al.
Publicado: (2021)

Germline BRCA1 Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With RET Codon 634 Mutation
por: Sarkadi, Balázs, et al.
Publicado: (2019)

Germline Mutations of the MEN1 Gene in Japanese Kindred with Multiple Endocrine Neoplasia Type 1
por: Shimizu, Satoko, et al.
Publicado: (1997)

Positive Germline Selection in Pedigrees With Multiple Endocrine Neoplasia Type 2 Carrying V804M Mutation in the RET Gene
por: Peddareddygari, Leema Reddy, et al.
Publicado: (2016)

Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China
por: Qi, Xiao-Ping, et al.
Publicado: (2021)

A Large Germline Deletion of the MEN1 Gene in a Family with Multiple Endocrine Neoplasia Type 1
por: Kishi, Mari, et al.
Publicado: (1998)

Multiple endocrine neoplasias type 2B and RET proto-oncogene
por: Martucciello, Giuseppe, et al.
Publicado: (2012)

Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2
por: Wagner, Simona M., et al.
Publicado: (2012)

Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia
por: Prete, Alessandro, et al.
Publicado: (2021)

Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2)
por: Lee, Ji-young, et al.
Publicado: (2022)

RET Germline Mutations Identified by Exome Sequencing in a Chinese Multiple Endocrine Neoplasia Type 2A/Familial Medullary Thyroid Carcinoma Family
por: Qi, Xiao-Ping, et al.
Publicado: (2011)

SAT561 Pathogenic RET V804M Germline Variant Without Clinical Manifestations Of Multiple Endocrine Neoplasia Type 2 In An Elderly Male
por: Ghosh, Raisa, et al.
Publicado: (2023)

Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4)
por: Thakker, Rajesh V.
Publicado: (2014)

Diagnosis and Management of Multiple Endocrine Neoplasia Type 1 (MEN1)
por: Dreijerink, Koen MA, et al.
Publicado: (2005)

The role of nuclear imaging in multiple endocrine neoplasia 1 (MEN 1)
por: Wosnitzer, Brian, et al.
Publicado: (2015)

Breast cancer in multiple endocrine neoplasia type 1 (MEN1)
por: Cheah, Seong Keat, et al.
Publicado: (2021)

The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A
por: Yang, Zheng, et al.
Publicado: (2020)

A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion
por: Giani, Carlotta, et al.
Publicado: (2020)

Diagnosis and Treatment of Gastrinomas in Multiple Endocrine Neoplasia Type 1 (MEN-1)
por: Plöckinger, Ursula
Publicado: (2012)

Novel Germline c.105_107dupGCT MEN1 Mutation in a Family with Newly Diagnosed Multiple Endocrine Neoplasia Type 1
por: Stasiak, Magdalena, et al.
Publicado: (2020)

SUN-128 Impaired Fasting Glucose Is Associated with Insulin Resistance in Patients with Germline Mutations in the Multiple Endocrine Neoplasia Type 1 (MEN1) Gene
por: Bansal, Rashika, et al.
Publicado: (2020)

Imaging diagnostic standard in multiple endocrine neoplasia (MEN)
por: Tesdorff, J, et al.
Publicado: (2014)

Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994–2014: A Nationwide Study
por: Mathiesen, Jes Sloth, et al.
Publicado: (2017)

MON-335 Phenocopy of Multiple Endocrine Neoplasia Type 1 (MEN1) Due to a Germline Cell Division Cycle 73 (CDC73) Variant
por: Lines, Kate, et al.
Publicado: (2019)

Multiple electrolyte disturbances as the presenting feature of multiple endocrine neoplasia type 1 (MEN-1)
por: Li, Adrian Po Zhu, et al.
Publicado: (2022)

Different RET gene mutation-induced multiple endocrine neoplasia type 2A in 3 Chinese families
por: Liu, Qiuli, et al.
Publicado: (2017)

Multiple endocrine neoplasia 2A with RET mutation p.Cys611Tyr: A case report
por: Li, Yan, et al.
Publicado: (2021)

A large Chinese pedigree of multiple endocrine neoplasia type 2A with a novel C634Y/D707E germline mutation in RET exon 11
por: Lu, Fanqian, et al.
Publicado: (2017)

Case report: Two sisters with a germline CHEK2 variant and distinct endocrine neoplasias
por: Vallera, Raphaelle D., et al.
Publicado: (2022)

Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): when and how
por: Falchetti, Alberto
Publicado: (2010)

Diagnosis: Multiple endocrine neoplasia type 1 (MEN 1), also known as Wermer’s syndrome
por: Das, Chandan Jyoti, et al.
Publicado: (2007)

Bone phenotypes in multiple endocrine neoplasia type 1: survey on the MEN1 Florentine database
por: Marini, Francesca, et al.
Publicado: (2022)

Approach of Multiple Endocrine Neoplasia Type 1 (MEN1) Syndrome–Related Skin Tumors
por: Băicoianu-Nițescu, Livia-Cristiana, et al.
Publicado: (2022)

Multiple endocrine neoplasia type 1
por: Marini, Francesca, et al.
Publicado: (2006)

Multiple endocrine neoplasia type 1
por: Thakker, R. V.
Publicado: (2012)

Two Germline Missense Mutations at Codons 804 and 806 of the RET Proto‐oncogene in the Same Allele in a Patient with Multiple Endocrine Neoplasia Type 2B without Codon 918 Mutation
por: Miyauchi, Akira, et al.
Publicado: (1999)

Multiple endocrine neoplasia type 1 involving both the liver and lung: a case report
por: Lai, Jianlin, et al.
Publicado: (2022)

A novel MEN1 mutation in a Japanese adolescent with multiple endocrine neoplasia type 1
por: Itoh, Masatsune, et al.
Publicado: (2017)

Multiple endocrine neoplasia type 1 (MEN1) presenting with renal stones: Case report and review
por: Ibrahim, Mohamed N., et al.
Publicado: (2020)

A novel MEN1 pathogenic variant in an Italian patient with multiple endocrine neoplasia type 1
por: Corsello, Andrea, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_h606olhig0jbvsftoa4rnu9bdk