Identification of functional pathways and molecular signatures in neuroendocrine neoplasms by multi-omics analysis

Background Neuroendocrine neoplasms (NENs) represent a heterogeneous class of rare tumors with increasing incidence. They are characterized by the ability to secrete peptide hormones and biogenic amines but other reliable biomarkers are lacking, making diagnosis and identification of the primary sit...

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Bibliographic Details
Published in:Journal of translational medicine 2022-07, Vol.20 (1), p.1-306, Article 306
Main Authors: Melone, Viola, Salvati, Annamaria, Palumbo, Domenico, Giurato, Giorgio, Nassa, Giovanni, Rizzo, Francesca, Palo, Luigi, Giordano, Alessandro, Incoronato, Mariarosaria, Vitale, Mario, Mian, Caterina, Di Biase, Immacolata, Cristiano, Stefano, Narciso, Viviana, Cantile, Monica, Di Mauro, Annabella, Tatangelo, Fabiana, Tafuto, Salvatore, Modica, Roberta, Pivonello, Claudia, Salvatore, Marco, Colao, Annamaria, Weisz, Alessandro, Tarallo, Roberta
Format: Article
Language:English
Subjects:
Acids
Amines
Analysis
ATM signaling
Biogenic amines
Biomarkers
Biopsy
Cancer
Circulating biomarkers
Classification
Diagnosis
Endocrinology
Genes
Genetic transcription
Medical prognosis
Metastasis
MicroRNA
miRNA
Molecular signatures
Mutation
Neuroendocrine neoplasms
Neuroendocrine tumors
Next-generation sequencing
Peptide hormones
Therapeutic targets
Thyroid cancer
Thyroid carcinoma
Thyroid gland
Transcriptomes
Tumors
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Summary:Background Neuroendocrine neoplasms (NENs) represent a heterogeneous class of rare tumors with increasing incidence. They are characterized by the ability to secrete peptide hormones and biogenic amines but other reliable biomarkers are lacking, making diagnosis and identification of the primary site very challenging. While in some NENs, such as the pancreatic ones, next generation sequencing technologies allowed the identification of new molecular hallmarks, our knowledge of the molecular profile of NENs from other anatomical sites is still poor. Methods Starting from the concept that NENs from different organs may be clinically and genetically correlated, we applied a multi-omics approach by combining multigene panel testing, CGH-array, transcriptome and miRNome profiling and computational analyses, with the aim to highlight common molecular and functional signatures of gastroenteropancreatic (GEP)-NENs and medullary thyroid carcinomas (MTCs) that could aid diagnosis, prognosis and therapy. Results By comparing genomic and transcriptional profiles, ATM-dependent signaling emerged among the most significant pathways at multiple levels, involving gene variations and miRNA-mediated regulation, thus representing a novel putative druggable pathway in these cancer types. Moreover, a set of circulating miRNAs was also selected as possible diagnostic/prognostic biomarkers useful for clinical management of NENs. Conclusions These findings depict a complex molecular and functional landscape of NENs, shedding light on novel therapeutic targets and disease biomarkers to be exploited. Keywords: Neuroendocrine neoplasms, Molecular signatures, ATM signaling, Circulating biomarkers
ISSN:1479-5876
1479-5876
DOI:10.1186/s12967-022-03511-7