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Pseudomyxoma peritonei (PMP) is a rare phenomenon, characterized by accumulation of mucus in the abdominal cavity due to a mucinous neoplasm. Histologically, PMP is divided into three prognostic classes, namely low-grade mucinous carcinoma peritonei (LGMCP), high-grade mucinous carcinoma peritonei (HGMCP), and high-grade mucinous carcinoma peritonei with signet ring cells (HGMCP-S); HGMCP-S exhibits the worst prognosis. Complete cytoreductive surgery and hyperthermic intraperitoneal chemotherapy have been established as the standard therapy for PMP. However, 50% of patients with PMP experience a recurrence, and 30–40% are unable to receive the standard treatment due to invasive diseases. Therefore, novel therapies are required for their treatment. Although patient-derived cell lines are important tools for basic and pre-clinical research, PMP cell lines derived from patients with HGMCP-S have never been reported. Thus, we established a novel PMP cell line NCC-PMP2-C1, using surgically resected tumor tissue from a patient with HGMCP-S. NCC-PMP2-C1 cells were maintained for more than five months and passaged 30 times under culture conditions. NCC-PMP2-C1 cells exhibited multiple deletions and somatic mutations, slow growth, histological features, and dissemination of tumor cells in nude mice. Screening for the anti-proliferative effects of anti-cancer drugs on cells revealed that bortezomib, mubritinib, and romidepsin had a significant response against NCC-PMP2-C1 cells. Thus, the NCC-PMP2-C1 cell line is the first PMP cell line harboring signet ring cells and will be a valuable resource for basic and preclinical studies of HGMCP-S. [ABSTRACT FROM AUTHOR]

A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.6 kb deletion located between intron 1 and intron 6 of TP53. This finding indicates that the NCC Oncopanel is suggestive for detecting large germline deletions in tumor suppressor genes., (© The Author(s) 2025. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permission@oup.com.)

Extraskeletal osteosarcoma (ESOS) is a rare mesenchymal malignancy producing osteoid and bone in soft tissue without skeletal attachment. ESOS exhibits chemoresistance and poor prognosis, and is distinct from osseous osteosarcoma. The biological characteristics of ESOS are not fully understood, and patient-derived cell lines of ESOS are not available from public cell banks. Here, we established a novel cell line of ESOS and characterized its genetic and biological characteristics as well as examined its response to anti-cancer reagents. The cell line was established using tumor tissue from a 58-year-old female patient with ESOS, and named as NCC-ESOS1-C1. Phenotypes relevant to malignancy such as proliferation and invasion were examined in vitro, and genetic features were evaluated using the NCC Oncopanel assay. The response to inhibitors was monitored by screening of an anti-cancer reagent library. The cells constantly proliferated, showing spheroid formation and invasion capabilities. The NCC Oncopanel revealed the presence of actionable mutations in PIK3CA. Library screening revealed the presence of anti-cancer reagents with significant anti-proliferative effects on NCC-ESOS1-C1 at a low concentration. In conclusion, we established and characterized a novel ESOS cell line, NCC-ESOS1-C1. This cell line will be a useful resource for basic research and preclinical studies. [ABSTRACT FROM AUTHOR]

Next‐generation sequencing (NGS) of tumor tissue (ie, clinical sequencing) can guide clinical management by providing information about actionable gene aberrations that have diagnostic and therapeutic significance. Here, we undertook a hospital‐based prospective study (TOP‐GEAR project, 2nd stage) to investigate the feasibility and utility of NGS‐based analysis of 114 cancer‐associated genes (the NCC Oncopanel test). We examined 230 cases (comprising more than 30 tumor types) of advanced solid tumors, all of which were matched with nontumor samples. Gene profiling data were obtained for 187 cases (81.3%), 111 (59.4%) of which harbored actionable gene aberrations according to the Clinical Practice Guidelines for Next Generation Sequencing in Cancer Diagnosis and Treatment (Edition 1.0) issued by 3 major Japanese cancer‐related societies. Twenty‐five (13.3%) cases have since received molecular‐targeted therapy according to their gene aberrations. These results indicate the utility of tumor‐profiling multiplex gene panel testing in a clinical setting in Japan. This study is registered with UMIN Clinical Trials Registry (UMIN 000011141). The results of the TOP‐GEAR project (UMIN 000011141) indicate the utility of tumor‐profiling multiplex gene panel testing in a clinical setting in Japan. [ABSTRACT FROM AUTHOR]