Current Prognostic and Predictive Biomarkers for Gastrointestinal Tumors in Clinical Practice

Overview

Journal Pathologica

Specialty Pathology

Date 2020 Nov 12

PMID 33179625

Citations 18

Authors

Matteo Fassan

Aldo Scarpa

Andrea Remo

Giovanna De Maglio

Giancarlo Troncone

Antonio Marchetti

Claudio Doglioni

Giuseppe Ingravallo

Giuseppe Perrone

Paola Parente

Claudio Luchini

Luca Mastracci

Affiliations

Soon will be listed here.

Abstract

The pathologist emerged in the personalized medicine era as a central actor in the definition of the most adequate diagnostic and therapeutic algorithms. In the last decade, gastrointestinal oncology has seen a significantly increased clinical request for the integration of novel prognostic and predictive biomarkers in histopathological reports. This request couples with the significant contraction of invasive sampling of the disease, thus conferring to the pathologist the role of governor for both proper pathologic characterization and customized processing of the biospecimens. This overview will focus on the most commonly adopted immunohistochemical and molecular biomarkers in the routine clinical characterization of gastrointestinal neoplasms referring to the most recent published recommendations, guidelines and expert opinions.

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References

Gullo I, Grillo F, Molinaro L, Fassan M, De Silvestri A, Tinelli C . Minimum biopsy set for HER2 evaluation in gastric and gastro-esophageal junction cancer. Endosc Int Open. 2015; 3(2):E165-70. PMC: 4477016. DOI: 10.1055/s-0034-1391359. View

Vidal J, Bellosillo B, Santos Vivas C, Garcia-Alfonso P, Carrato A, Cano M . Ultra-selection of metastatic colorectal cancer patients using next-generation sequencing to improve clinical efficacy of anti-EGFR therapy. Ann Oncol. 2019; 30(3):439-446. DOI: 10.1093/annonc/mdz005. View

Yoshino T, Pentheroudakis G, Mishima S, Overman M, Yeh K, Baba E . JSCO-ESMO-ASCO-JSMO-TOS: international expert consensus recommendations for tumour-agnostic treatments in patients with solid tumours with microsatellite instability or NTRK fusions. Ann Oncol. 2020; 31(7):861-872. DOI: 10.1016/j.annonc.2020.03.299. View

Bang Y, Van Cutsem E, Feyereislova A, Chung H, Shen L, Sawaki A . Trastuzumab in combination with chemotherapy versus chemotherapy alone for treatment of HER2-positive advanced gastric or gastro-oesophageal junction cancer (ToGA): a phase 3, open-label, randomised controlled trial. Lancet. 2010; 376(9742):687-97. DOI: 10.1016/S0140-6736(10)61121-X. View

Hofmann M, Stoss O, Shi D, Buttner R, van de Vijver M, Kim W . Assessment of a HER2 scoring system for gastric cancer: results from a validation study. Histopathology. 2008; 52(7):797-805. DOI: 10.1111/j.1365-2559.2008.03028.x. View

Mathiak M, Warneke V, Behrens H, Haag J, Boger C, Kruger S . Clinicopathologic Characteristics of Microsatellite Instable Gastric Carcinomas Revisited: Urgent Need for Standardization. Appl Immunohistochem Mol Morphol. 2015; 25(1):12-24. PMC: 5147042. DOI: 10.1097/PAI.0000000000000264. View

Clancy C, Burke J, Kalady M, Coffey J . BRAF mutation is associated with distinct clinicopathological characteristics in colorectal cancer: a systematic review and meta-analysis. Colorectal Dis. 2013; 15(12):e711-8. DOI: 10.1111/codi.12427. View

Grillo F, Fassan M, Ceccaroli C, Giacometti C, Curto M, Zagonel V . The Reliability of Endoscopic Biopsies in Assessing HER2 Status in Gastric and Gastroesophageal Junction Cancer: A Study Comparing Biopsies with Surgical Samples. Transl Oncol. 2013; 6(1):10-6. PMC: 3573649. DOI: 10.1593/tlo.12334. View

Van Cutsem E, Huijberts S, Grothey A, Yaeger R, Cuyle P, Elez E . Binimetinib, Encorafenib, and Cetuximab Triplet Therapy for Patients With V600E-Mutant Metastatic Colorectal Cancer: Safety Lead-In Results From the Phase III BEACON Colorectal Cancer Study. J Clin Oncol. 2019; 37(17):1460-1469. PMC: 7370699. DOI: 10.1200/JCO.18.02459. View

10.

Luchini C, Bibeau F, Ligtenberg M, Singh N, Nottegar A, Bosse T . ESMO recommendations on microsatellite instability testing for immunotherapy in cancer, and its relationship with PD-1/PD-L1 expression and tumour mutational burden: a systematic review-based approach. Ann Oncol. 2019; 30(8):1232-1243. DOI: 10.1093/annonc/mdz116. View

11.

Iacobuzio-Donahue C, Fu B, Yachida S, Luo M, Abe H, Henderson C . DPC4 gene status of the primary carcinoma correlates with patterns of failure in patients with pancreatic cancer. J Clin Oncol. 2009; 27(11):1806-13. PMC: 2668706. DOI: 10.1200/JCO.2008.17.7188. View

12.

Pellino A, Riello E, Nappo F, Brignola S, Murgioni S, Ahcene Djaballah S . Targeted therapies in metastatic gastric cancer: Current knowledge and future perspectives. World J Gastroenterol. 2019; 25(38):5773-5788. PMC: 6801189. DOI: 10.3748/wjg.v25.i38.5773. View

13.

Smyth E, Wotherspoon A, Peckitt C, Gonzalez D, Hulkki-Wilson S, Eltahir Z . Mismatch Repair Deficiency, Microsatellite Instability, and Survival: An Exploratory Analysis of the Medical Research Council Adjuvant Gastric Infusional Chemotherapy (MAGIC) Trial. JAMA Oncol. 2017; 3(9):1197-1203. PMC: 5824280. DOI: 10.1001/jamaoncol.2016.6762. View

14.

Popat S, Hubner R, Houlston R . Systematic review of microsatellite instability and colorectal cancer prognosis. J Clin Oncol. 2005; 23(3):609-18. DOI: 10.1200/JCO.2005.01.086. View

15.

Hechtman J, Middha S, Stadler Z, Zehir A, Berger M, Vakiani E . Universal screening for microsatellite instability in colorectal cancer in the clinical genomics era: new recommendations, methods, and considerations. Fam Cancer. 2017; 16(4):525-529. DOI: 10.1007/s10689-017-9993-x. View

16.

Guinney J, Dienstmann R, Wang X, De Reynies A, Schlicker A, Soneson C . The consensus molecular subtypes of colorectal cancer. Nat Med. 2015; 21(11):1350-6. PMC: 4636487. DOI: 10.1038/nm.3967. View

17.

Sarode V, Robinson L . Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. Arch Pathol Lab Med. 2019; 143(10):1225-1233. DOI: 10.5858/arpa.2018-0201-OA. View

18.

Hutchings D, Jiang Z, Skaro M, Weiss M, Wolfgang C, Makary M . Histomorphology of pancreatic cancer in patients with inherited ATM serine/threonine kinase pathogenic variants. Mod Pathol. 2019; 32(12):1806-1813. PMC: 7403604. DOI: 10.1038/s41379-019-0317-6. View

19.

Javle M, Lowery M, Shroff R, Weiss K, Springfeld C, Borad M . Phase II Study of BGJ398 in Patients With FGFR-Altered Advanced Cholangiocarcinoma. J Clin Oncol. 2017; 36(3):276-282. PMC: 6075847. DOI: 10.1200/JCO.2017.75.5009. View

20.

Han C, Li F, Ma J, Zou H . Concordant KRAS mutations in primary and metastatic colorectal cancer tissue specimens: a meta-analysis and systematic review. Cancer Invest. 2012; 30(10):741-7. DOI: 10.3109/07357907.2012.732159. View