We describe a metastatic colorectal cancer (mCRC) patient, treated with first-line FIr-B/FOx (5-fluorouracil, irinotecan, bevacizumab, oxaliplatin) therapy, with aggressive and resistant disease. KRAS, NRAS, BRAF, PI3KCA were analyzed in primary tumor and liver metastasis. KRAS c.34G>A mutation was detected in primary tumor and liver metastasis, which, additionally, revealed two rare PI3KCA mutations (c.1633G>C, c.1645G>C). The c.1645G>C was never reported in CRC. Akt/p-AktSer473, PTEN, mismatch repair (MMR), epidermal growth factor receptor (EGFR) expression was evaluated. Normal MMR and EGFR expression was detected. Akt was shown by primary tumor and liver metastasis, whereas p-AktSer473 was identified only in the latter, despite positive PTEN expression. Patient showed 7months progression free survival and 15months overall survival, lower than median values reported in KRAS exon 2 mutant patients treated with the same therapy. Results leave to hypothesize putative role of these mutations in worsening of the disease and open to further confirmatory studies.

KRAS and Two Rare PI3KCA Mutations Coexisting in a Metastatic Colorectal Cancer Patient With Aggressive and Resistant Disease.

Tessitore A
;
Bruera G;Mastroiaco V;Cortellini A;Cocciolone V;Calvisi G;Zazzeroni F;Ficorella C;Ricevuto E;Alesse E
2018-01-01

Abstract

We describe a metastatic colorectal cancer (mCRC) patient, treated with first-line FIr-B/FOx (5-fluorouracil, irinotecan, bevacizumab, oxaliplatin) therapy, with aggressive and resistant disease. KRAS, NRAS, BRAF, PI3KCA were analyzed in primary tumor and liver metastasis. KRAS c.34G>A mutation was detected in primary tumor and liver metastasis, which, additionally, revealed two rare PI3KCA mutations (c.1633G>C, c.1645G>C). The c.1645G>C was never reported in CRC. Akt/p-AktSer473, PTEN, mismatch repair (MMR), epidermal growth factor receptor (EGFR) expression was evaluated. Normal MMR and EGFR expression was detected. Akt was shown by primary tumor and liver metastasis, whereas p-AktSer473 was identified only in the latter, despite positive PTEN expression. Patient showed 7months progression free survival and 15months overall survival, lower than median values reported in KRAS exon 2 mutant patients treated with the same therapy. Results leave to hypothesize putative role of these mutations in worsening of the disease and open to further confirmatory studies.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11697/120600
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