Work

SMARCB1/INI1-deficient Undifferentiated Carcinoma Presenting as Cancer of Unknown Primary with Massive Hepatic Involvement: Transient Response to FOLFOX plus Nivolumab

Year: 2026

Type: article

Abstract: SMARCB1/INI1-deficient carcinomas are rare and aggressive, and their responses to immune checkpoint inhibitors remain incompletely characterized. A 38-year-old woman presented with massive bilobar liver metastasis, ascites, bone lesions, and a small pancreatic tail lesion without an identifiable primary tumor. Liver biopsy revealed an undifferentiated carcinoma with rhabdoid features and complete loss of INI1. Comprehensive genomic profiling revealed microsatellite stability, low tumor mutational burden (TMB), and SMARCB1 copy number loss. The programmed death ligand 1 combined positive score was 18. Chemotherapy plus nivolumab induced transient regression of the hepatic lesions; however, progression occurred and the patient died 8 months after presentation.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.7642-26

Authors: Yosuke Saito, Hiroyuki Takeda, Ayaka Yamasaki, Tomoko Norose, Hiroyuki Arai, Nobuyuki Ohike, Shuhei Suzuki, Yuta Yamada, Koshi Takahashi, Ryosuke Kumanishi, Tadahisa Fukui, Masanobu Takahashi

Institutions: Yamagata University, St. Marianna University School of Medicine, Yamagata Prefectural Shinjo Hospital

Language: English

Topic: Chromatin Remodeling and Cancer

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7201884674

FWCI:

Cites: 20

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Related to: 10