bims-ovdlit 2026-05-17 papers

Issue of 2026–05–17
seven papers selected by
Lara Paracchini, Humanitas Research

Int J Gynecol Cancer. 2026 Apr 19. pii: S1048-891X(26)00240-9. [Epub ahead of print]36(6): 104709

Clinical characteristics and survival outcome of isolated serous tubal intraepithelial carcinoma.

Koji Matsuo, Rohan Luhar, Matthew W Lee, Emmeline L Friedman, Hadi Erfani, Angelina E Lim, Alexia J Ouzounian, Lynda D Roman.

This cohort study included 157 patients with isolated serous tubal intraepithelial carcinoma and compared with 330 patients with stage IA high-grade serous fallopian tubal carcinoma identified in the Commission-on-Cancer's National Cancer Database from 2011 to 2017. Patients with isolated serous tubal intraepithelial carcinoma were younger, more likely to be non-Hispanic White, and had more recent diagnosis than those with stage IA high-grade serous fallopian tubal carcinoma. With a median follow-up of 7.2 years, the 7-year overall survival rate of patients with isolated serous tubal intraepithelial carcinoma exceeded 90%, which was higher than stage IA high-grade serous fallopian tubal carcinoma (93.2% vs 87.6%, adjusted-hazard ratio 0.30, 95% confidence interval 0.14 to 0.65). The majority of patients with isolated serous tubal intraepithelial carcinoma did not undergo lymph node evaluation and did not receive chemotherapy (82.2%). The 7-year overall survival rate of these patients remained higher than 90% (92.6%). In conclusion, these data suggest that isolated serous tubal intraepithelial carcinoma and stage IA high-grade serous fallopian tubal carcinoma have distinct clinical characteristics and survival. Although limited in sample size, favorable long-term survival without lymph node evaluation and chemotherapy for patients with isolated serous tubal intraepithelial carcinoma found in this study requires further validation and evaluation.

Keywords: Chemotherapy; Lymphadenectomy; STIC; Serous Tubal Intraepithelial Carcinoma; Survival

DOI: https://doi.org/10.1016/j.ijgc.2026.104709

Front Oncol. 2026 ;16 1811964

Hereditary cancer syndromes with gynecological cancer risk: focus on prevention strategies.

Simona Duranti, Valentina Iacobelli, Rita Trozzi, Floriana Camarda, Arianna Panfili, Anna Fagotti, Francesco Fanfani, Claudia Marchetti, Camilla Nero.

Background: Hereditary cancer syndromes, including pathogenic variants in BRCA1/2 and mismatch-repair genes, confer a substantial risk of several malignancies, including ovarian, endometrial, and fallopian tube cancers. Given the limited efficacy of current screening strategies, particularly for ovarian cancer, a prevention-focused approach is required. This review synthesizes evidence on identification, risk stratification, surveillance, chemoprevention, and prophylactic surgery in women with inherited gynecologic cancer susceptibility, proposing a precision-prevention framework.
Methods: A structured search of MEDLINE, Embase, and the Cochrane Library was conducted through July 2025. Original studies, reviews, and guidelines in English were included following independent screening and full-text assessment by two authors.
Results: Expanded germline testing, universal mismatch-repair screening, and genomic profiling have improved carrier identification beyond family history-based criteria. Integrated counseling models enhance informed decision-making and access to care. Conventional surveillance tools show limited sensitivity; emerging strategies, including circulating tumor DNA assays and artificial intelligence, require further validation. Hormonal and anti-inflammatory agents demonstrate potential for risk reduction. Prophylactic surgery, including salpingo-oophorectomy, hysterectomy, or investigational salpingectomy with delayed oophorectomy, remains central, requiring multidisciplinary evaluation and attention to fertility, menopausal health, and patient preferences. Ethical and health-economic considerations remain critical in clinical practice and policy development. Further studies are warranted to better elucidate the potential role of liquid biopsy, microbiota, and targeted vaccination strategies.
Conclusions: Prevention of gynecologic cancers in genetically predisposed women requires an integrated strategy that includes comprehensive genetic assessment, risk-adapted surveillance, evidence-based risk-reduction interventions, and multidisciplinary coordination. Implementing and refining precision prevention frameworks is crucial to optimize outcomes and translate genetic risk into tailored preventive care.

Keywords: BRCA1/2; Lynch syndrome; genetic counseling; hereditary cancer syndrome; preventive strategies; prophylactic surgery; surveillance

DOI: https://doi.org/10.3389/fonc.2026.1811964

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2026 May 04.

Spectrum of germline variants in a group of patients with ovarian cancer.

Julia Vrtelova, Petr Vrtel, Kristyna Kolarikova, Maria Janikova, Radek Vodicka, Radek Vrtel, Vaclava Curtisova, Martin Prochazka, Veronika Bitnerova.

INTRODUCTION: Ovarian tumours represent a highly malignant disease that is often diagnosed at an advanced stage and is associated with a poor prognosis. The most common histological type is high-grade serous carcinoma, characterized by significant genomic instability and homologous recombination defects, particularly due to pathogenic variants in the BRCA1 and BRCA2 genes. The introduction of high throughput sequencing methods has enabled the identification of a broader spectrum of predisposing genes and further emphasised the importance of genetic testing for targeted prevention and individualised treatment.
METHODS: The aim of our study was to determine the frequency of germline mutations in 117 unrelated patients diagnosed with ovarian, tubal, or primary peritoneal cancer. We also assessed epidemiological and tumor pathogenesis data. The patients were examined with the "CZECANCA" gene panel sequenced by next-generation sequencing (NGS) on an Illumina platform.
RESULTS: Pathogenic variants were found in 29% of patients, most commonly mutations in the BRCA1 and BRCA2 genes. The median age of patients with high-grade serous ovarian cancer was 61 years. The median age of BRCA1/2-positive women was 54 years, and all had a positive family history of cancer.
CONCLUSION: Identifying carriers of pathogenic variants enables targeted prevention, earlier detection, and personalized therapy. Despite significant advances in treatment, early diagnosis and screening of at-risk individuals remain a major challenge.

Keywords: gene panel; next generation sequencing; ovarian cancer; pathogenic variants; variant of uncertain significant

DOI: https://doi.org/10.5507/bp.2026.004

J Med Genet. 2026 May 14. pii: jmg-2026-111498. [Epub ahead of print]

Updated ENIGMA recommendations for reporting germline variants in cancer susceptibility genes and their translation into twenty languages.

Arcangela De Nicolo, Diana M Eccles, Kirsimari Aaltonen, Pia Alhopuro, Sarah Louise Ariansen, Michela Biancolella, Sandrine M Caputo, Olivier Caron, Pietro Cavalli, Jianbang Chiang, Kathleen B M Claes, Edgar Christian S Cuaresma, Miguel de la Hoya, Antoine De Pauw, Orland Díez, Mev Domínguez-Valentin, Hans Ehrencrona, Magnhild K Fjeldvær, Florentia Fostira, Marie Belle D Francia, Javier Galego-Carro, Encarna B Gómez García, Nur Tiara Hassan, Jan Hauke, Akira Hirasawa, Xin Huang, Elaine Marisse H Ilagan-Cargullo, Issei Imoto, Sowmya Jonnagadla, Manasadevi Karthikeyan, Petra Kleiblova, Irene Konstantopoulou, Artur Kowalik, Anders Kvist, Fabienne Lesueur, Shao-Tzu Li, Adrià López-Fernández, Eva Machackova, Alexandra Martins, Arjen R Mensenkamp, Yukihide Momozawa, Gemma Montalban, Alvaro N A Monteiro, Heli Nevanlinna, Joanne Ngeow, Edenir Inez Palmero, Inge Sokilde Pedersen, Frances Victoria F Que, Marta Santamariña, Elizabeth Santana Dos Santos, Christian F Singer, Monika Siołek, Angela R Solano, Jana Soukupova, Priyadharshini D/O Suresh, Magdalena Szczepaniak, Yen Y Tan, Soo Hwang Teo, Emma Tham, Mads Thomassen, Georgios Tsaousis, Thomas van Overeem Hansen, Ana Vega, Eladio A Velasco-Sampedro, Teresia Wangensteen, Barbara Wappenschmidt, Drakoulis Yannoukakos, Sook-Yee Yoon, Amanda B Spurdle, Paolo Radice.

Genetic testing for cancer susceptibility underpins precision cancer prevention and care. Gaps in the healthcare providers' genetic literacy and an ambiguous lexicon for variant description may hinder proper delivery and clinical application of consistently trustworthy test results. The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) international consortium supports controlled terminology and recommends a framework for reporting germline variants in cancer susceptibility genes, using breast cancer as an exemplar. Moving forward towards terminological coherence across disciplines and borders, the ENIGMA Clinical Working Group launched a multinational effort to release consortium-approved translations of the published recommendations. The herein reported Vocabulary Translation Project offered an opportunity to reappraise and align the reference text to the recent BRCA1 and BRCA2 specifications to the American College of Medical Genetics and Genomics/Association for Molecular Pathology rules by the ENIGMA Variant Curation Expert Panel and to highlight country-specific differences in breast cancer risk assessment and management. The updated recommendations and their 20 translations are now provided as easy to handle documents, covering 11 of the most widely spoken languages in the world. They will contribute to minimised erroneous inferences, more informed decision-making, improved health outcomes and equity in the use of genetic testing for cancer predisposition and in translational oncology.

Keywords: Clinical Decision-Making; Genetic Counseling; Genetic Predisposition to Disease; Genetic Variation; Molecular Diagnostic Techniques

DOI: https://doi.org/10.1136/jmg-2026-111498

Blood Cancer J. 2026 May 14.

CHIP clinics: a practical overview of structure and function.

Shyam A Patel, Abhishek A Mangaonkar.

Modern knowledge about the principles of clonal hematopoiesis of indeterminate potential (CHIP) has paved way for numerous clinical efforts aimed at managing this pre-malignant condition. The emergence of various CHIP clinics across the globe attests to collaborative attempts to formalize clinical management of CHIP and its entities. However, translational science in this field is limited to date, partly due to nascent therapeutic concepts with limited understanding of natural history and longitudinal follow up. Here, we explore the structure and function of existing CHIP clinics and propose a working model to materialize future CHIP clinics at academic and community health care systems. We discuss the critical elements in conceptualizing and operationalizing CHIP clinic workflows, including pinpointing unmet clinical needs, prospective and retrospective identification of patients with CHIP, and recruitment of key CHIP clinic personnel toward creation of an effective multidisciplinary team. We underscore the clinical utility of CHIP clinics with regard to value creation in preventive hematology, real-world risk assessment using evidence-based models, provision of clinical trial enrollment opportunities, establishment of curated research registries and tissue biorepositories, and development of community outreach efforts. Finally, we shed light onto prospects of continued multi-center participation in collaborative science related to emerging therapeutic options in CHIP. These concepts may have a favorable impact on previvorship in hematology in the coming years.

DOI: https://doi.org/10.1038/s41408-026-01514-x