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Open AccessCommunication
Int. J. Mol. Sci. 2015, 16(8), 19447-19457; doi:10.3390/ijms160819447

Pyrosequencing-Based Assays for Rapid Detection of HER2 and HER3 Mutations in Clinical Samples Uncover an E332E Mutation Affecting HER3 in Retroperitoneal Leiomyosarcoma

1
Group of Cancer Biomarkers, Pathology Department, Health Research Institute Fundación Jiménez Díaz (IIS-FJD, UAM), Avda. Reyes Católicos 2, 28040 Madrid, Spain
2
Translational Oncology Division, Oncohealth Institute, Fundación Jiménez Díaz Hospital, Avda. Reyes Católicos 2, 28040 Madrid, Spain
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Academic Editor: William Chi-shing Cho
Received: 8 July 2015 / Revised: 5 August 2015 / Accepted: 10 August 2015 / Published: 17 August 2015
(This article belongs to the Collection Advances in Molecular Oncology)
View Full-Text   |   Download PDF [830 KB, uploaded 17 August 2015]   |  

Abstract

Mutations in Human Epidermal Growth Factor Receptors (HER) are associated with poor prognosis of several types of solid tumors. Although HER-mutation detection methods are currently available, such as Next-Generation Sequencing (NGS), alternative pyrosequencing allow the rapid characterization of specific mutations. We developed specific PCR-based pyrosequencing assays for identification of most prevalent HER2 and HER3 mutations, including S310F/Y, R678Q, L755M/P/S/W, V777A/L/M, 774-776 insertion, and V842I mutations in HER2, as well as M91I, V104M/L, D297N/V/Y, and E332E/K mutations in HER3. We tested 85 Formalin Fixed and Paraffin Embbeded (FFPE) samples and we detected three HER2-V842I mutations in colorectal carcinoma (CRC), ovarian carcinoma, and pancreatic carcinoma patients, respectively, and a HER2-L755M mutation in a CRC specimen. We also determined the presence of a HER3-E332K mutation in an urothelial carcinoma sample, and two HER3-D297Y mutations, in both gastric adenocarcinoma and CRC specimens. The D297Y mutation was previously detected in breast and gastric tumors, but not in CRC. Moreover, we found a not-previously-described HER3-E332E synonymous mutation in a retroperitoneal leiomyosarcoma patient. The pyrosequencing assays presented here allow the detection and characterization of specific HER2 and HER3 mutations. These pyrosequencing assays might be implemented in routine diagnosis for molecular characterization of HER2/HER3 receptors as an alternative to complex NGS approaches. View Full-Text
Keywords: HER2; HER3; cancer; pyrosequencing HER2; HER3; cancer; pyrosequencing
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González-Alonso, P.; Chamizo, C.; Moreno, V.; Madoz-Gúrpide, J.; Carvajal, N.; Daoud, L.; Zazo, S.; Martín-Aparicio, E.; Cristóbal, I.; Rincón, R.; García-Foncillas, J.; Rojo, F. Pyrosequencing-Based Assays for Rapid Detection of HER2 and HER3 Mutations in Clinical Samples Uncover an E332E Mutation Affecting HER3 in Retroperitoneal Leiomyosarcoma. Int. J. Mol. Sci. 2015, 16, 19447-19457.

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