Pulmonary Artery Intimal Sarcoma in a Patient with Lynch Syndrome: Response to an Immune Checkpoint Inhibitor

Autor: Yue Mounai, Taichi Yoshida, Shogo Ito, Koji Fukuda, Kazuhiro Shimazu, Daiki Taguchi, Hanae Shinozaki, Daichi Takagi, Kazuhiro Imai, Hiroshi Yamamoto, Yoshihiro Minamiya, Hiroshi Nanjyo, Hiroyuki Shibata
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Case Reports in Oncology, Vol 16, Iss 1, Pp 21-29 (2023)
Druh dokumentu: article
ISSN: 1662-6575
00052868
DOI: 10.1159/000528682
Popis: Intimal sarcoma is an extremely rare mesenchymal tumor arising in the great vessels. To date, intimal sarcoma has not been reported in patients with Lynch syndrome (LS), even though this syndrome lacks DNA mismatch repair ability genetically and is prone to various malignancies. This patient was diagnosed with LS by the Revised Amsterdam Criteria II, and she suffered from intimal sarcoma in the left pulmonary artery. She had a germline missense variant of PMS2 (c.1399G>A, pV467I) which is classified as a variant of unknown significance. In her intimal sarcoma, PMS2 expression was decreased. Additionally, it exhibited microsatellite instability and a high tumor mutational burden (69 mutations/Mb) which are features of mismatch repair deficiency, although PMS2 (c.1399G>A, pV467I) missense is a variant of unknown significance. The metastatic lesions of intimal sarcoma in this patient responded heterogeneously to pembrolizumab, an immune checkpoint inhibitor. Cytotoxic agents and radiation were also effective for some metastatic lesions, but some lesions, including her liver metastases, were resistant. The hypermutable nature of the LS genotype might acquire resistance to an immune checkpoint inhibitor and other cytotoxic agents such as occurred with her liver metastases.
Databáze: Directory of Open Access Journals
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