Purpose: The absolute benefit of adjuvant chemotherapy in stage II CRC is only 3–4%. The identification of biomarkers through molecular profiling could identify patients who will more benefit from adjuvant chemotherapy. Patients and Methods: This retrospective analysis examined tissue blocks from 17 patients affected by relapsed stage II CRC, whose comprehensive genomic profiling of tumors was conducted through next-generation sequencing (NGS) via Roche-FoundationOne®. Results: Mutations were found in APC (76.5%), TP53 (58.8%) and KRAS (52.9%). Only KRAS wild-type samples showed FBXW7. APC frameshift mutations and MLH1 splice variant were conversely significant correlated (7% v 93%, P = 0.014). The median number of gene mutations reported was 6 (range 2–14). The TP53 mutation was associated most frequently with lung metastasis (P = 0.07) and high tumor budding (P = 0.03). Despite no statistical significance, lung recurrence, LVI/Pni, MSI and more than 6 genetic mutations were correlated to worse DFS and OS. Patients carried co-mutations of TP53-FBXW7 reported the worse DFS (4 v 14 months) and OS (4 v 65 months) compared to the other patients. Conclusion: According to the present analysis, the setting of relapsed CRC emerges as one of the fields of greatest utility for NGS, looking at personalized cancer care.

The potential role of genomic signature in stage II relapsed colorectal cancer (CRC) patients: a mono-institutional study / Roberto, M.; Arrivi, G.; Pilozzi, E.; Montori, A.; Balducci, G.; Mercantini, P.; Laghi, A.; Ierino, D.; Panebianco, M.; Marinelli, D.; Tomao, S.; Marchetti, P.; Mazzuca, F.. - In: CANCER MANAGEMENT AND RESEARCH. - ISSN 1179-1322. - 2022:14(2022), pp. 1353-1369. [10.2147/CMAR.S342612]

The potential role of genomic signature in stage II relapsed colorectal cancer (CRC) patients: a mono-institutional study

Roberto M.
Primo
;
Arrivi G.
Secondo
;
Pilozzi E.;Montori A.;Balducci G.;Mercantini P.;Laghi A.;Panebianco M.;Marinelli D.;Tomao S.;Marchetti P.
Penultimo
;
Mazzuca F.
Ultimo
2022

Abstract

Purpose: The absolute benefit of adjuvant chemotherapy in stage II CRC is only 3–4%. The identification of biomarkers through molecular profiling could identify patients who will more benefit from adjuvant chemotherapy. Patients and Methods: This retrospective analysis examined tissue blocks from 17 patients affected by relapsed stage II CRC, whose comprehensive genomic profiling of tumors was conducted through next-generation sequencing (NGS) via Roche-FoundationOne®. Results: Mutations were found in APC (76.5%), TP53 (58.8%) and KRAS (52.9%). Only KRAS wild-type samples showed FBXW7. APC frameshift mutations and MLH1 splice variant were conversely significant correlated (7% v 93%, P = 0.014). The median number of gene mutations reported was 6 (range 2–14). The TP53 mutation was associated most frequently with lung metastasis (P = 0.07) and high tumor budding (P = 0.03). Despite no statistical significance, lung recurrence, LVI/Pni, MSI and more than 6 genetic mutations were correlated to worse DFS and OS. Patients carried co-mutations of TP53-FBXW7 reported the worse DFS (4 v 14 months) and OS (4 v 65 months) compared to the other patients. Conclusion: According to the present analysis, the setting of relapsed CRC emerges as one of the fields of greatest utility for NGS, looking at personalized cancer care.
biomarkers; colon cancer; next-generation sequencing; NGS; stage II
01 Pubblicazione su rivista::01a Articolo in rivista
The potential role of genomic signature in stage II relapsed colorectal cancer (CRC) patients: a mono-institutional study / Roberto, M.; Arrivi, G.; Pilozzi, E.; Montori, A.; Balducci, G.; Mercantini, P.; Laghi, A.; Ierino, D.; Panebianco, M.; Marinelli, D.; Tomao, S.; Marchetti, P.; Mazzuca, F.. - In: CANCER MANAGEMENT AND RESEARCH. - ISSN 1179-1322. - 2022:14(2022), pp. 1353-1369. [10.2147/CMAR.S342612]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1637019
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