High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas

Virchows Archiv : an International Journal of Pathology
Michele SimboloAldo Scarpa


Sporadic medullary thyroid carcinoma (MTC) harbors RET gene somatic mutations in up to 50 % of cases, and RAS family gene mutations occur in about 10 %. A timely and comprehensive characterization of molecular alterations is needed to improve MTC diagnostic stratification and design-tailored therapeutic approaches. Twenty surgically resected sporadic MTCs, previously analyzed for RET mutations by Sanger sequencing using DNA from formalin-fixed paraffin-embedded samples, were investigated for intragenic mutations in 50 cancer-associated genes applying a multigene Ion AmpliSeq next-generation sequencing (NGS) technology. Thirteen (65 %) MTCs harbored a RET mutation; 10 were detected at both Sanger and NGS sequencing, while 3 undetected by Sanger were revealed by NGS. One of the 13 RET-mutated cases also showed an F354L germline mutation in STK11. Of the seven RET wild-type MTCs, four cases (57.1 %) harbored a RAS mutation: three in HRAS (all Q61R) and one in KRAS (G12R). The three remaining MTCs (15 %) resulted as wild-type for all the 50 cancer-related genes. Follow-up was available in all but one RET-mutated case. At the end of follow-up, 7 of 12 (58 %) RET-mutated patients had relapsed, while the 4 RAS-mutated MTC patients wer...Continue Reading


Oct 21, 2014·Scientifica·Laura Sterian Ward
Feb 13, 2016·Nature Reviews. Endocrinology·Cristina RomeiRossella Elisei
Aug 20, 2015·Endocrine-related Cancer·Margarida M MouraValeriano Leite
Mar 10, 2015·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Melissa A BurykSelma Feldman Witchel
Apr 17, 2016·Irish Journal of Medical Science·P LennonJ P O' Neill
May 12, 2016·European Journal of Endocrinology·Joakim Crona, Britt Skogseid
Jun 11, 2016·European Journal of Endocrinology·Vera TiedjeDagmar Führer
May 15, 2015·American Journal of Clinical Pathology·Rebecca D Chernock, Ian S Hagemann
Apr 22, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Bayan AlzumailiRonald A Ghossein
Mar 2, 2018·Archives of Pathology & Laboratory Medicine·Matteo Fassan
Jan 1, 2016·Molecular Medicine Reports·Fabrício P NascimentoMagnus R Dias-Da-Silva
Jan 7, 2017·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Moritz JesinghausGünter Klöppel
Nov 23, 2016·Journal of Translational Medicine·Yoon Jin Cha, Ja Seung Koo
Oct 30, 2016·Current Opinion in Oncology·Ana Luiza MaiaCarla Vaz Ferreira Vargas
Jan 17, 2020·Cancers·Holly A MartinsonMatthew J Olnes


Sep 1, 1992·Internal Medicine·M YamamotoS Hayakawa
Nov 1, 1989·Gut·A D SpigelmanR K Phillips
Jun 20, 1998·Annals of Internal Medicine·L A BoardmanL C Hartmann
Jul 20, 2006·Endocrine Reviews·Jan Willem B de GrootRobert M W Hofstra
Dec 13, 2007·The Journal of Clinical Endocrinology and Metabolism·Rossella EliseiAldo Pinchera
Dec 10, 2009·Nature Reviews. Genetics·Michael L Metzker
Feb 18, 2011·The Journal of Clinical Endocrinology and Metabolism·Margarida M MouraValeriano Leite
Oct 26, 2011·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Samuel A WellsMartin J Schlumberger
Oct 27, 2011·The Journal of Molecular Diagnostics : JMD·Alberto ZamòAldo Scarpa
Jan 13, 2012·CA: a Cancer Journal for Clinicians·Rebecca SiegelAhmedin Jemal
Dec 13, 2012·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Nicole G Chau, Robert I Haddad
Dec 18, 2012·Thyroid : Official Journal of the American Thyroid Association·Raffaele CiampiRossella Elisei
Dec 25, 2012·The Journal of Clinical Endocrinology and Metabolism·Nishant AgrawalDouglas Ball
Aug 13, 2013·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·Susi BarolloCaterina Mian
Aug 28, 2013·The Journal of Clinical Endocrinology and Metabolism·Marina N NikiforovaYuri E Nikiforov
Sep 5, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Rossella EliseiSteven I Sherman
Sep 5, 2013·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Robert I Haddad
Nov 26, 2013·Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association·Matteo FassanAldo Scarpa
Feb 5, 2014·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Claudio LuchiniAldo Scarpa

Related Concepts

Genetic Analysis RET Proto-oncogene Assay
Germ-Line Mutation
Carcinoma, Neuroendocrine
Somatic Mutation
Goodpasture-antigen-binding Protein Kinase Activity
HRAS gene
STK11 gene
Germline Mutation Abnormality

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