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Evidence of response to pembrolizumab in a patient with Lynch syndrome-related metastatic colon cancer

Authors Salman P, Panay S, Fernández R, Mahave M, Soza-Ried C

Received 9 March 2018

Accepted for publication 31 May 2018

Published 23 October 2018 Volume 2018:11 Pages 7295—7300


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Dr XuYu Yang

Video abstract presented by Christian Soza-Ried.

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Pamela Salman,1 Sergio Panay,1 René Fernández,2 Mauricio Mahave,1 Cristian Soza-Ried1

1Department of Medical Oncology, Instituto Oncológico Fundación Arturo López Pérez, Santiago, Chile; 2Department of Nuclear Medicine, Instituto Oncológico Fundación Arturo López Pérez, Santiago, Chile

Abstract: Patients with Lynch Syndrome (LS) are at high risk of developing colorectal cancer at an early age. Germline mutations in DNA mismatch repair genes and microsatellite instability are clear signatures of this autosomal dominant disorder. Here, we report the clinical history of a 38-year-old patient with LS-related metastatic colon cancer treated in Chile with immunotherapy (pembrolizumab). The patient exhibited a pathogenic deletion in Epithelial cell Adhesion Molecule (EPCAM) and mutS homolog 2 (MSH2) genes, and after diagnosis received 12 cycles of FOLFOX. The tumor mass, however, continued to grow, and a new metastatic mucinous adenocarcinoma of 13 mm appeared at the level of the 11th right dorsal vertebra. To treat these lesions, the patient received immunotherapy scheme with pembrolizumab (200 mg every 21 days). After only four cycles, the patient’s symptoms improved and the lesions showed less metabolic activity. After 12 cycles with pembrolizumab, the patient started palliative radiation and systemic second-line treatment with FOLFIRI and Avastin. The immunotherapy scheme with pembrolizumab was capable of delaying the second-line treatment for at least 8 months, becoming a useful therapeutic option for this patient. Thus, our study highlights the importance of implementing immunotherapy treatment programs for LS-colorectal cancer patients in South American countries.

immunotherapy, DNA mismatch repair proteins, EPCAM, MSH2

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