SMARCB1/INI1-deficient Undifferentiated Carcinoma Presenting as Cancer of Unknown Primary with Massive Hepatic Involvement: Transient Response to FOLFOX plus Nivolumab
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.
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BibTeX
@article{saito2026smarcb1ini1deficient,
title = {{SMARCB1/INI1-deficient Undifferentiated Carcinoma Presenting as Cancer of Unknown Primary with Massive Hepatic Involvement: Transient Response to FOLFOX plus Nivolumab}},
author = {Yosuke Saito and Hiroyuki Takeda and Ayaka Yamasaki and Tomoko Norose and Hiroyuki Arai and Nobuyuki Ohike and Shuhei Suzuki and Yuta Yamada and Koshi Takahashi and Ryosuke Kumanishi and Tadahisa Fukui and Masanobu Takahashi},
journal = {Internal Medicine},
year = {2026},
month = aug,
doi = {10.2169/internalmedicine.7642-26},
url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7642-26/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - SMARCB1/INI1-deficient Undifferentiated Carcinoma Presenting as Cancer of Unknown Primary with Massive Hepatic Involvement: Transient Response to FOLFOX plus Nivolumab
AU - Yosuke Saito
AU - Hiroyuki Takeda
AU - Ayaka Yamasaki
AU - Tomoko Norose
AU - Hiroyuki Arai
AU - Nobuyuki Ohike
AU - Shuhei Suzuki
AU - Yuta Yamada
AU - Koshi Takahashi
AU - Ryosuke Kumanishi
AU - Tadahisa Fukui
AU - Masanobu Takahashi
PY - 2026
DA - 2026/08/08
JO - Internal Medicine
DO - 10.2169/internalmedicine.7642-26
UR - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7642-26/_article
AB - 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.
SN - 1349-7235
SN - 0918-2918
ER -