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

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

Published in

Internal medicine (Tokyo, Japan). Aug 08, 2026. Epub Aug 08, 2026.

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.

PMID:
42572307
Bibliographic data and abstract were imported from PubMed on 10 Aug 2026.

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