B cell-rich tertiary lymphoid structures (TLS) are associated with favorable prognosis and positive response to immunotherapy in cancer. Here we show that simultaneous activation of innate immune effectors, STING and lymphotoxin-β receptor (LTβR), results in CD8 T cell-dependent tumor suppression while inducing high endothelial venule development and germinal center-like B cell responses in tumors to generate functional TLS in a T cell-dependent manner. In a neoadjuvant setting, activation of STING and LTβR by their agonists effectively immunized mice against tumor recurrence, leading to long-term survival.
View Article and Find Full Text PDFJ Community Genet
October 2025
Pediatric research in rare diseases relies on sharing biological specimens, clinical data, and analytical information among researchers. Re-consent is essential in longitudinal biobank (BB) research to ensure that pediatric participants remain informed and willing to continue. However, the issue of re-consent-obtaining consent once participants reach adulthood-remains a significant ethical concern.
View Article and Find Full Text PDFAim: Women with familial hypercholesterolemia (FH) face specific challenges during pregnancy and childbirth, such as treatment restrictions and the absence of guidelines. This study therefore assessed the status of perinatal management and the needs of women with FH.
Methods: We contacted 240 board-certified FH specialists, and these physicians screened eligible patients for the survey.
Background: The Japanese Society for Sentinel Node Navigation Surgery conducted a multi-institutional prospective cohort study to compare sentinel node biopsy (SNB) with SNB followed by axillary lymph node dissection (ALND) in breast cancer patients with positive sentinel lymph node (SLN).
Patients And Methods: Female patients with breast cancer with cT1-3N0-1M0 were eligible. In cases of one to three positive micro- or macrometastases in the SLN confirmed by histological or molecular diagnosis, SNB alone (SNB group) or additional ALND (ALND group) was performed under physician's discretion.
Background: Pathogenic variants (PVs) of BRCA1 and BRCA2 predispose individuals to a higher risk of breast and ovarian cancer; however, the precise risks posed by other cancer susceptibility genes remain unclear, particularly in Asian populations.
Methods: We executed a case-control study of 11 and 26 genes associated with breast and ovarian cancer susceptibility, respectively, in 7220 women with breast cancer, 2464 women with ovarian cancer, and 4032 controls from a multicentre, hospital-based registry in Japan. Furthermore, we conducted a meta-analysis of 23,193 patients with breast and/or ovarian cancer and 31,190 controls from six other hospital-based studies.
There is striking evidence that a high lipoprotein(a) [Lp(a)] concentration is a strong, independent, and causal cardiovascular risk factor. However, Lp(a) testing rates are very low (1 %-2 %) despite the fact that 1 in 5 individuals have elevated Lp(a) concentrations. The Brussels International Declaration on Lp(a) Testing and Management was co-created by the Lp(a) International Task Force and global leaders at the Lp(a) Global Summit, held in Brussels, Belgium, on March 24-25, 2025.
View Article and Find Full Text PDFThe Japanese Breast Cancer Society initiated the breast cancer registry in 1975 and migrated the registry to the National Clinical Database-Breast Cancer Registry (NCD-BCR) in 2012. This annual report presents 2021 data on the NCD-BCR. We analyzed data from 98,540 breast cancer (BC) cases registered in 2021.
View Article and Find Full Text PDFThis study reports the first Asian case of syndromic cleft lip and palate resembling CHARGE-like syndrome, caused by novel compound heterozygous variants of the HYAL2 gene. Hyaluronidase-2 (HYAL2) plays a critical role in hyaluronic acid degradation and tissue remodelling. A 2-year-old Japanese boy presented with growth deficiency, congenital heart disease, craniofacial dysmorphism, micropenis, and developmental delays-features that overlapped with those of CHARGE syndrome.
View Article and Find Full Text PDFDespite the importance of genetic testing for risk assessment and treatment in breast cancer, the prognostic impact of germline pathogenic variants (PVs), especially in Asian populations, is unclear. We assessed the impact of germline PVs in patients with early-stage breast cancer. This study included 7278 Japanese multihospital registry patients.
View Article and Find Full Text PDFIntroduction: This prospective, multicenter, single-arm Phase II trial investigates the feasibility and the safety of tailored axillary surgery (TAS) in patients with clinically node-positive breast cancer who are undergoing upfront surgery. The trial aims to establish the criteria for safely omitting axillary lymph node dissection (ALND) in these cases, potentially shifting breast cancer management by minimizing surgical complications and preserving the patients' quality of life (QOL).
Methods: The study includes patients who were diagnosed with invasive breast cancer, particularly those with limited metastatic lymph nodes.
Breast Cancer
March 2025
This is an annual report by the Japanese Breast Cancer Society, which provides statistics on the clinical data on breast cancer in Japan, extracted from the National Clinical Database-Breast Cancer Registry (NCD-BCR). This report includes an update of 102,453 breast cancer cases at 1339 institutions registered in the NCD-BCR in 2022. Among the 101,793 female patients, the median age at cancer diagnosis was 62 years (interquartile range, 50-73 years), and 29.
View Article and Find Full Text PDFFilamin C (FLNC), recently identified as a causative gene of cardiomyopathy, is widely expressed in cardiomyocytes and is involved in signal transduction between the sarcomere and the plasma membrane. In general, the FLNC truncating variant causes severe dilated cardiomyopathy. A 70-year-old female was referred to our hospital with advanced conduction defects and underwent pacemaker implantation.
View Article and Find Full Text PDFBreast Cancer Res Treat
February 2025
Background: Biomarkers to predict the recurrence risk are required to optimize perioperative treatment. Adjuvant chemotherapy for patients with human epidermal growth factor 2-positive (HER2-positive) early breast cancer is decided by pathological responses of neoadjuvant chemotherapy (NAC). However, whether pathological responses are appropriate biomarkers is unclear.
View Article and Find Full Text PDFPurpose: This study aimed to investigate the incidence of severe surgical complications among children with hepatoblastoma, identify their risk factors, and evaluate the influence of surgical complications on long-term outcomes.
Methods: Children with hepatoblastoma who underwent liver resection at our hospital between September 1992 and January 2023 were included in this study. Clinical data were retrospectively reviewed, and patients were categorized into complication and non-complication groups based on the need for radiological or surgical interventions or massive intraoperative blood loss (> 80 mL/kg).
Breast Cancer
July 2024
Background: Numerous epidemiological studies have shown that hypertriglyceridemia is a significant risk factor for cardiovascular diseases (CVD). However, large clinical studies on triglyceride-lowering therapy have yielded inconsistent results. In the current review, we reassess the importance of triglyceride-lowering therapy in preventing CVD based on previous literature and the recently published findings of the PROMINENT trial.
View Article and Find Full Text PDFBreast Cancer
May 2024
The Japanese Breast Cancer Society Clinical Practice Guidelines for Breast Cancer, 2022 Edition was published in June 2022. The guidelines were prepared while conforming as much as possible to the "Minds Manual for Guideline Development 2020 ver. 3.
View Article and Find Full Text PDFImportance: The association of tumor-infiltrating lymphocyte (TIL) abundance in breast cancer tissue with cancer recurrence and death in patients with early-stage triple-negative breast cancer (TNBC) who are not treated with adjuvant or neoadjuvant chemotherapy is unclear.
Objective: To study the association of TIL abundance in breast cancer tissue with survival among patients with early-stage TNBC who were treated with locoregional therapy but no chemotherapy.
Design, Setting, And Participants: Retrospective pooled analysis of individual patient-level data from 13 participating centers in North America (Rochester, Minnesota; Vancouver, British Columbia, Canada), Europe (Paris, Lyon, and Villejuif, France; Amsterdam and Rotterdam, the Netherlands; Milan, Padova, and Genova, Italy; Gothenburg, Sweden), and Asia (Tokyo, Japan; Seoul, Korea), including 1966 participants diagnosed with TNBC between 1979 and 2017 (with follow-up until September 27, 2021) who received treatment with surgery with or without radiotherapy but no adjuvant or neoadjuvant chemotherapy.
Introduction: Cancer genome analysis using next-generation sequencing requires adequate and high-quality DNA samples. Genomic analyses were conventionally performed using formalin-fixed paraffin-embedded sections rather than cytology samples such as cell block or smear specimens. Specimens collected from liquid-based cytology (LBC) have the potential to be sources of high-quality DNA suitable for genetic analysis even after long-term storage.
View Article and Find Full Text PDFBreast Cancer
May 2024
The Japanese Breast Cancer Society Clinical Practice Guidelines are published as timely guidance on clinical issues in breast cancer treatment in Japan. In the recent edition of these guidelines, we addressed a new clinical question 34 (CQ 34, systemic treatment part) "Is trastuzumab deruxtecan recommended for patients with unresectable or metastatic HER2-low breast cancer?" and a new future research question 7 (FRQ 7, pathological diagnosis part) "How is HER2-low breast cancer diagnosed for the indication of trastuzumab deruxtecan?". These questions address use of trastuzumab deruxtecan in patients with unresectable or metastatic HER2-low breast cancer who have previously received chemotherapy for metastatic disease.
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