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The Molecular Signature More Than the Site of Localization Defines the Origin of the Malignancy

Published on Dec 17, 2019in Frontiers in Oncology
· DOI :10.3389/fonc.2019.01390
Antonio Matrone7
Estimated H-index: 7
,
Liborio Torregrossa17
Estimated H-index: 17
+ 12 AuthorsRossella Elisei66
Estimated H-index: 66
Abstract
The diagnosis of the primary origin of metastases to the thyroid gland is not easy, in particular in case of concomitant lung adenocarcinoma which shares several immunophenotypical features. Although rare, these tumors should be completely characterized in order to set up specific therapies. This is the case of a 64-years-old woman referred to our institution for a very advanced neoplastic disease diagnosed both as poorly differentiated/anaplastic thyroid cancer (PDTC/ATC) for the huge involvement of the neck and concomitant lung adenocarcinoma (LA). Neither the clinical features and the imaging evaluation nor the tumor markers allowed a well-defined diagnosis. Moreover, the histologic features of the thyroid and lung biopsies confirmed the synchronous occurrence of two different tumors. The molecular analysis showed a c.34G>T (p.G12C) mutation in the codon 12 of K-RAS gene, in both tissues. Since, this mutation is highly prevalent in LA and virtually absent in PDTC/ATC the lung origin of the malignancy was assumed, and the patient was addressed to the correct therapeutic strategy.
  • References (24)
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References24
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#2Mariam Jamal-Hanjani (UCL: University College London)H-Index: 14
Last. Fiona H Blackhall (University of Manchester)H-Index: 51
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Abstract Despite being the most frequent gain-of-function genetic alteration in human cancer, KRAS mutation has to date offered only limited potential as a prognostic and predictive biomarker. Results from the phase III SELECT-1 trial in non-small cell lung cancer (NSCLC) recently added to a number of historical and more contemporary disappointments in targeting KRAS mutant disease, including farnesyl transferase inhibition and synthetic lethality partners such as STK33. This narrative review us...
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#1Hui Chen (University of Texas MD Anderson Cancer Center)H-Index: 6
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Last. Michelle Dianne Williams (University of Texas MD Anderson Cancer Center)H-Index: 37
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Next generation sequencing (NGS) for molecular diagnostics allows simultaneous testing of activating oncogenes and tumor suppressor mutations in multiple signal pathways. Extended mutational profiling of advanced thyroid cancers may enhance considerations for targeted therapies. We analyzed clinically derived molecular profiling of 216 patients with advanced thyroid carcinoma using NGS (Ion Torrent Personal Genome Machine) from 4/2012-2/2014. We examined substitutions and small indels in 46/50 c...
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#1Nikita Pozdeyev (Anschutz Medical Campus)H-Index: 5
#3Ethan S. Sokol (Anschutz Medical Campus)H-Index: 1
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Purpose: To define the genetic landscape of advanced differentiated and anaplastic thyroid cancer and identify genetic alterations of potential diagnostic, prognostic and therapeutic significance. Experimental design: The genetic profiles of 583 advanced differentiated and 196 anaplastic thyroid cancers (ATC) generated with targeted next-generation sequencing cancer-associated gene panels MSK-IMPACT and FoundationOne were analyzed. Results: ATC had more genetic alterations per tumor, and pediatr...
32 CitationsSource
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PurposeWe report the efficacy and safety of dabrafenib (BRAF inhibitor) and trametinib (MEK inhibitor) combination therapy in BRAF V600E–mutated anaplastic thyroid cancer, a rare, aggressive, and highly lethal malignancy with poor patient outcomes and no systemic therapies with clinical benefit.MethodsIn this phase II, open-label trial, patients with predefined BRAF V600E–mutated malignancies received dabrafenib 150 mg twice daily and trametinib 2 mg once daily until unacceptable toxicity, disea...
61 CitationsSource
#1Iain J. Nixon (NHS Lothian)H-Index: 25
#2Andrés Coca-PelazH-Index: 10
Last. Alfio FerlitoH-Index: 58
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Background Metastasis to the thyroid gland from nonthyroid sites is an uncommon clinical presentation in surgical practice. The aim of this review was to assess its incidence management and outcomes.
9 CitationsSource
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#1Kevin Wood (U of C: University of Chicago)H-Index: 3
#2Thomas A. Hensing (U of C: University of Chicago)H-Index: 24
Last. Ravi Salgia (City of Hope National Medical Center)H-Index: 83
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Importance Lung cancer is the leading cause of cancer deaths worldwide, with non–small-cell lung cancer (NSCLC) constituting more than 80% of all lung cancers. Non–small-cell lung cancer is a heterogenous disease, with multiple different oncogenic driver mutations representing possible therapeutic targets. The vi-Ki-ras2 Kirsten rat sarcoma viral oncogene ( KRAS ) represents one of the most common oncogenic driver mutations. Unfortunately, targeted therapies thus far have been unsuccessful. Obje...
33 CitationsSource
BACKGROUND. Poorly differentiated thyroid cancer (PDTC) and anaplastic thyroid cancer (ATC) are rare and frequently lethal tumors that so far have not been subjected to comprehensive genetic characterization. METHODS. We performed next-generation sequencing of 341 cancer genes from 117 patient-derived PDTCs and ATCs and analyzed the transcriptome of a representative subset of 37 tumors. Results were analyzed in the context of The Cancer Genome Atlas study (TCGA study) of papillary thyroid cancer...
224 CitationsSource
#1Livia HegerovaH-Index: 1
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