Discordant microsatellite instability findings in two samples from a patient with biliary cancer that responded to pembrolizumab.
Biliary tract cancer
Companion diagnostic
Comprehends genome profiling
MSI
Pembrolizumab
Journal
Clinical journal of gastroenterology
ISSN: 1865-7265
Titre abrégé: Clin J Gastroenterol
Pays: Japan
ID NLM: 101477246
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
received:
09
06
2023
accepted:
12
07
2023
medline:
29
9
2023
pubmed:
25
7
2023
entrez:
25
7
2023
Statut:
ppublish
Résumé
Microsatellite instability (MSI) is a key marker to predict response to immune checkpoint inhibitors; however, only 1-2% of biliary cancers have this genomic feature. In a patient with hilar biliary cancer, MSI was examined in two cancer specimens (forceps biopsy from the biliary stricture and endoscopic ultrasound-guided fine-needle aspiration biopsy [EUS-FNAB] from the adjacent lymph node). We observed discordant results, as high frequency of MSI was found only in the forceps biopsy. Although the FNAB sample was 10 times larger than that of the forceps biopsy, the tumor concentration was much lower, which is a possible reason for the discordance. Besides, immunohistochemistry of four mismatch-repair (MMR) proteins showed proficient MMR expressions. The tumor became refractory to gemcitabine, cisplatin, and S-1 but responded well to pembrolizumab. Caution is needed for sample selection and for interpretation of the test's results, to avoid missing rare chance for effective molecular target agents.
Identifiants
pubmed: 37490248
doi: 10.1007/s12328-023-01833-7
pii: 10.1007/s12328-023-01833-7
doi:
Substances chimiques
pembrolizumab
DPT0O3T46P
Antibodies, Monoclonal, Humanized
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
748-754Informations de copyright
© 2023. Japanese Society of Gastroenterology.
Références
Kanai M. Current clinical practice of precision medicine using comprehensive genomic profiling tests in biliary tract cancer in Japan. Curr Oncol. 2022;29:7272–84.
doi: 10.3390/curroncol29100573
pubmed: 36290850
pmcid: 9599999
Biliary Cancer, Cancer Statistics: National Cancer Center Japan. 2023. https://ganjoho.jp/reg_stat/statistics/stat/cancer/9_gallbladder.html .
Akagi K, Oki E, Taniguchi H, et al. Real-world data on microsatellite instability status in various unresectable or metastatic solid tumors. Cancer Sci. 2021;112:1105–13.
doi: 10.1111/cas.14798
pubmed: 33403729
pmcid: 7935787
Matsubayashi H, Higashigawa S, Kiyozumi Y, et al. Microsatellite instability is biased in Amsterdam II-defined Lynch-related cancer cases with family history but is rare in other cancers: a summary of 1000 analyses. BMC Cancer. 2022;22:73.
doi: 10.1186/s12885-022-09172-5
pubmed: 35039004
pmcid: 8762879
Trabucco SE, Gowen K, Maund SL, et al. A novel next-generation sequencing approach to detecting microsatellite instability and pan-tumor characterization of 1000 microsatellite instability-high cases in 67,000 patient samples. J Mol Diagn. 2019;21:1053–66.
doi: 10.1016/j.jmoldx.2019.06.011
pubmed: 31445211
pmcid: 7807551
Middha S, Zhang L, Nafa K, et al. Reliable pan-cancer microsatellite instability assessment by using targeted next-generation sequencing data. JCO Precis Oncol. 2017. https://doi.org/10.1200/PO.17.00084 .
doi: 10.1200/PO.17.00084
pubmed: 30211344
pmcid: 6130812
Marabelle A, Le DT, Ascierto PA, et al. Efficacy of pembrolizumab in patients with noncolorectal high microsatellite instability/mismatch repair-deficient cancer: results from the phase II KEYNOTE-158 study. J Clin Oncol. 2020;38:1–10.
doi: 10.1200/JCO.19.02105
pubmed: 31682550
Ioka T, Kanai M, Kobayashi S, et al. Randomized phase III study of gemcitabine, cisplatin plus S-1 versus gemcitabine, cisplatin for advanced biliary tract cancer (KHBO1401- MITSUBA). J Hepatobiliary Pancreat Sci. 2023;30:102–10.
doi: 10.1002/jhbp.1219
pubmed: 35900311
Morizane C, Okusaka T, Mizusawa J, et al. Combination gemcitabine plus S-1 versus gemcitabine plus cisplatin for advanced/recurrent biliary tract cancer: the FUGA-BT (JCOG1113) randomized phase III clinical trial. Ann Oncol. 2019;30:1950–8.
doi: 10.1093/annonc/mdz402
pubmed: 31566666
Fujimoto A, Fujita M, Hasegawa T, et al. Comprehensive analysis of indels in whole-genome microsatellite regions and microsatellite instability across 21 cancer types. Genome Res. 2020;30:334–46.
doi: 10.1101/gr.255026.119
pubmed: 32209592
pmcid: 7111525
Dedeurwaerdere F, Claes KB, Van Dorpe J, et al. Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer. Sci Rep. 2021;11:12880.
doi: 10.1038/s41598-021-91974-x
pubmed: 34145315
pmcid: 8213758
Trusky CL, Sepulveda AR, Hunt JL. Assessment of microsatellite instability in very small microdissected samples and in tumor samples that are contaminated with normal DNA. Diagn Mol Pathol. 2006;15:63–9.
doi: 10.1097/00019606-200606000-00001
pubmed: 16778585
Chugai Pharmacy. FoundationOne CDx Cancer Genome Profiling. 2019. https://www.fmu.ac.jp/byoin/new/sosiki/F1CDx_Guide.pdf . (in Japanese)
Sugimoto S, Matsubayashi H, Kimura H, et al. Diagnosis of bile duct cancer by bile cytology: usefulness of post-brushing biliary lavage fluid. Endosc Int Open. 2015;3:E323–8.
doi: 10.1055/s-0034-1391666
pubmed: 26357678
pmcid: 4554506
Gleeson FC, Rajan E, Levy MJ, et al. EUS-guided FNA of regional lymph nodes in patients with unresectable hilar cholangiocarcinoma. Gastrointest Endosc. 2008;67:438–43.
doi: 10.1016/j.gie.2007.07.018
pubmed: 18061597
Kurita A, Kodama Y, Nakamoto Y, et al. Impact of EUS-FNA for preoperative para-aortic lymph node staging in patients with pancreatobiliary cancer. Gastrointest Endosc. 2016;84:467-475 e1.
doi: 10.1016/j.gie.2016.02.045
pubmed: 26970011
Shinjo K, Matsubayashi H, Matsui T, et al. Biliary hemostasis using an endoscopic plastic stent placement for uncontrolled hemobilia caused by transpapillary forceps biopsy (with video). Clin J Gastroenterol. 2016;9:86–8.
doi: 10.1007/s12328-016-0637-8
pubmed: 26960930
Yamamoto K, Tsuchiya T, Itoi T, et al. Evaluation of novel slim biopsy forceps for diagnosis of biliary strictures: Single-institutional study of consecutive 360 cases (with video). World J Gastroenterol. 2017;23:6429–36.
doi: 10.3748/wjg.v23.i35.6429
pubmed: 29085192
pmcid: 5643268
Yoshida H, Shimada K, Hiraoka N. Infrequent mismatch repair protein loss in gallbladder cancer patients in Japan. Virch Arch. 2017;470:109–12.
doi: 10.1007/s00428-016-2043-5
Ando Y, Kumamoto K, Matsukawa H, et al. Low prevalence of biliary tract cancer with defective mismatch repair genes in a Japanese hospital-based population. Oncol Lett. 2022;23:4.
doi: 10.3892/ol.2021.13122
pubmed: 34820003
Matsubayashi H, Oishi T, Sasaki K, et al. Discordance of microsatellite instability and mismatch repair immunochemistry occurs depending on the cancer type. Hum Pathol. 2023;135:54–64.
doi: 10.1016/j.humpath.2022.12.016
pubmed: 36596344