A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma

The Journal of Clinical Endocrinology and Metabolism
Camilo JimenezAna O Hoff

Abstract

Hereditary medullary thyroid carcinoma, a tumor that arises from the parafollicular cells of the thyroid gland, occurs in isolation (as in familial medullary thyroid carcinoma), in association with hyperparathyroidism and pheochromocytoma (as in multiple endocrine neoplasia type 2A), or in association with pheochromocytoma, marfanoid habitus, and mucosal neuromas (as in multiple endocrine neoplasia type 2B). These genetic syndromes are associated with germline-activating mutations of the RET protooncogene, a cell surface tyrosine kinase receptor, which is believed to modulate specific intracellular signaling pathways involved in the regulation of C cell proliferation and apoptosis. RET-activating mutations involve two important functional areas of the receptor: the cysteine-rich extracellular domain and the intracellular tyrosine kinase domain. Multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma are more commonly associated with mutations in the cysteine-rich extracellular domain, whereas multiple endocrine neoplasia type 2B is exclusively associated with mutations involving the second intracellular tyrosine kinase domain. Here, we describe a novel missense mutation of the RET protooncogene that substi...Continue Reading

Citations

May 11, 2005·Familial Cancer·Mariola Peczkowska, Andrzej Januszewicz
Apr 29, 2005·The Journal of Molecular Diagnostics : JMD·Syed A AhmedRong Mao
Apr 1, 1997·Proceedings of the National Academy of Sciences of the United States of America·F M MichielsM Billaud
Jul 21, 2005·Thyroid : Official Journal of the American Thyroid Association·Maria A KouvarakiDouglas B Evans
May 28, 2009·Thyroid : Official Journal of the American Thyroid Association·UNKNOWN American Thyroid Association Guidelines Task ForceSamuel A Wells
Nov 1, 1995·Journal of Medical Genetics·P A CrosseyE R Maher
Nov 10, 2000·Journal of Medical Genetics·J R Hansford, L M Mulligan
Oct 27, 2007·Annals of Surgical Oncology·Curtis J WrayDouglas B Evans
Feb 9, 2012·International Journal of Molecular Sciences·Lucieli CeolinAna Luiza Maia
Jan 1, 2009·F1000 Medicine Reports·Stefania Marchisotta, Furio Pacini
Dec 21, 2011·Familial Cancer·Ping ZhouLing Peng
Sep 27, 2008·Der Chirurg; Zeitschrift für alle Gebiete der operativen Medizen·H DralleK Lorenz
Sep 8, 2010·Current Problems in Surgery·Ismail JatoiMichael A Choti
May 27, 2008·Endocrinology and Metabolism Clinics of North America·Camilo JiménezRobert F Gagel
Feb 9, 2008·The Journal of Molecular Diagnostics : JMD·Rebecca L MargrafCarl T Wittwer
Jun 6, 2007·Hematology/oncology Clinics of North America·Ana O Hoff, Paulo M Hoff
Mar 27, 2007·The Journal of Molecular Diagnostics : JMD·Rebecca L MargrafCarl T Wittwer
Mar 8, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Richard A Hubner, Richard S Houlston
Mar 27, 2015·Thyroid : Official Journal of the American Thyroid Association·Samuel A WellsUNKNOWN American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma
Aug 11, 2017·Journal of Cutaneous Pathology·Julia DaiRoberto A Novoa
Feb 2, 2010·Journal of Korean Medical Science·Jinhyang JungHoyong Park
Feb 19, 2005·Journal of Surgical Oncology·Frank J Quayle, Jeffrey F Moley
Jul 20, 2006·Endocrine Reviews·Jan Willem B de GrootRobert M W Hofstra
Jun 1, 2006·The Journal of Clinical Endocrinology and Metabolism·Camilo JiménezRobert F Gagel
Sep 27, 2007·The Journal of Clinical Endocrinology and Metabolism·Rossella EliseiAldo Pinchera
Dec 25, 2015·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Rodrigo A ToledoPatricia L M Dahia
Apr 5, 2021·Seminars in Cancer Biology·Jes Sloth MathiesenUlla Feldt-Rasmussen

❮ Previous
Next ❯

Related Concepts

Related Feeds

Apoptosis

Apoptosis is a specific process that leads to programmed cell death through the activation of an evolutionary conserved intracellular pathway leading to pathognomic cellular changes distinct from cellular necrosis