Cargando…

Medullary Thyroid Carcinoma With Exon 2 p.L56M RET Variant: Clinical Particular Features in Two Patients

RET (REarranged during Transfection) proto-oncogene variants are essential for the development of familial and sporadic forms of medullary thyroid carcinoma (MTC). The most frequent variants are usually located in exons 10, 11, and 13 through 16 of the RET gene. We report two cases of apparently spo...

Descripción completa

Detalles Bibliográficos
Autores principales:	Paragliola, Rosa M., Lovicu, Rosa M., Papi, Giampaolo, Capoluongo, Ettore, Minucci, Angelo, Canu, Giulia, Pontecorvi, Alfredo, Corsello, Salvatore M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6060540/ https://www.ncbi.nlm.nih.gov/pubmed/30072953 http://dx.doi.org/10.3389/fendo.2018.00398

Ejemplares similares

A rare case of juvenile hypertension: coexistence of type 2 multiple endocrine neoplasia -related bilateral pheochromocytoma and reninoma in a young patient with ACE gene polymorphism
por: Paragliola, Rosa Maria, et al.
Publicado: (2015)

Treatment with Synthetic Glucocorticoids and the Hypothalamus-Pituitary-Adrenal Axis
por: Paragliola, Rosa Maria, et al.
Publicado: (2017)

Cushing’s Syndrome Effects on the Thyroid
por: Paragliola, Rosa Maria, et al.
Publicado: (2021)

Medical Approaches in Adrenocortical Carcinoma
por: Paragliola, Rosa Maria, et al.
Publicado: (2020)

Clinical utility of lanreotide Autogel(®) in gastroenteropancreatic neuroendocrine tumors
por: Paragliola, Rosa Maria, et al.
Publicado: (2016)

Role of Mitotane in Adrenocortical Carcinoma – Review and State of the art
por: Paragliola, Rosa Maria, et al.
Publicado: (2018)

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis
por: Papi, Giampaolo, et al.
Publicado: (2018)

Factors Predicting Time to TSH Normalization and Persistence of TSH Suppression After Total Thyroidectomy for Graves' Disease
por: Paragliola, Rosa Maria, et al.
Publicado: (2019)

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

Oncocytic Variant of Medullary Thyroid Carcinoma: A Rare Case of Sporadic Multifocal and Bilateral RET Wild-Type Neoplasm with Revision of the Literature
por: Vinciguerra, Gian Luca Rampioni, et al.
Publicado: (2016)

Cortisol circadian rhythm and jet-lag syndrome: evaluation of salivary cortisol rhythm in a group of eastward travelers
por: Paragliola, Rosa Maria, et al.
Publicado: (2021)

Pediatric Cushing's Disease and Pituitary Incidentaloma: Is This a Real Challenge?
por: Paragliola, Rosa Maria, et al.
Publicado: (2014)

Clinical Concepts on Thyroid Emergencies
por: Papi, Giampaolo, et al.
Publicado: (2014)

Large‐scale Analysis of Mutations in RET Exon 16 in Sporadic Medullary Thyroid Carcinomas in Japan
por: Takano, Torn, et al.
Publicado: (2001)

Switching From Immediate-Release to Fractionated Dual-Release Hydrocortisone May Improve Metabolic Control and QoL in Selected Primary Adrenal Insufficiency Patients
por: Delle Cese, Francesca, et al.
Publicado: (2021)

Pregnancy and Prenatal Management of Congenital Adrenal Hyperplasia
por: Cera, Gianluca, et al.
Publicado: (2022)

Predominant RET Germline Mutations in Exons 10, 11, and 16 in Iranian Patients with Hereditary Medullary Thyroid Carcinoma
por: Hedayati, Mehdi, et al.
Publicado: (2011)

Editorial: The Unusual Presentation of Thyroid Disorders
por: Papi, Giampaolo, et al.
Publicado: (2019)

Allel RET+3 : T a medullary thyroid cancer
por: Pławski, A, et al.
Publicado: (2011)

Parathyroid Gland Involvement by Thyroid Cancer: Results from a Large Series of Thyroidectomies Performed in Two Italian University Hospitals and Review of the Literature
por: Papi, Giampaolo, et al.
Publicado: (2014)

RET mutations in a large indian family with medullary thyroid carcinoma
por: Mahesh, D. M., et al.
Publicado: (2014)

Chinese siblings with hereditary medullary thyroid carcinoma caused by RET mutation: implications for RET oncogene detection
por: Huang, Qin, et al.
Publicado: (2020)

Molecular Basis of Medullary Thyroid Carcinoma: The Role of RET Polymorphisms
por: Ceolin, Lucieli, et al.
Publicado: (2011)

Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas
por: Moura, M M, et al.
Publicado: (2009)

Somatic Mutations in RET Exons 12 and 15 in Sporadic Medullary Thyroid Carcinomas: Different Spectrum of Mutations in Sporadic Type from Hereditary Type
por: Uchino, Shinya, et al.
Publicado: (1999)

D898_E901 RET Deletion Is Oncogenic, Responds to Selpercatinib, and Treatment Resistance Can Arise Via RET-Independent Mechanisms
por: Porcelli, Tommaso, et al.
Publicado: (2023)

The Interplay between Immune System and Microbiota in Osteoporosis
por: Locantore, Pietro, et al.
Publicado: (2020)

Case Report: Papillary thyroid carcinoma in Goltz–Gorlin syndrome
por: Costanza, Flavia, et al.
Publicado: (2023)

RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases
por: Romei, Cristina, et al.
Publicado: (2018)

Modifier Role of Common RET Variants in Sporadic Medullary Thyroid Carcinoma
por: Skalniak, Anna, et al.
Publicado: (2021)

Effect of 3′UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma
por: Ceolin, Lucieli, et al.
Publicado: (2016)

Higher RET Gene Expression Levels Do Not Represent anAlternative RET Activation Mechanism in Medullary Thyroid Carcinoma
por: Mulè, Chiara, et al.
Publicado: (2021)

Genetic Basis of ACTH-Secreting Adenomas
por: Locantore, Pietro, et al.
Publicado: (2022)

SAT-566 Cofilin Is a Mediator of RET-Promoted Medullary Thyroid Carcinoma Cell Migration, Invasion and Proliferation
por: Peverelli, Erika, et al.
Publicado: (2019)

Iodine Supplementation: Usage “with a Grain of Salt”
por: Prete, Alessandro, et al.
Publicado: (2015)

Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma
por: Bim, Larissa V., et al.
Publicado: (2019)

Somatic Mutations in the RET Protooncogene in Japanese and Chinese Sporadic Medullary Thyroid Carcinomas
por: Shan, Liang, et al.
Publicado: (1998)

Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency
por: Milićević, Sara, et al.
Publicado: (2021)

Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in the RET
por: Sahakian, Nicolas, et al.
Publicado: (2023)

RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency
por: Ramone, Teresa, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_2uv5a6shsaa74gmmd0ttbm57e5