Latest Research
All publications from the Cancer3.AI database, newest first.
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
Tibbe D, et al
Researchers identified mutations in the WDHD1 gene as a new genetic cause of microcephalic primordial dwarfism (MPD), a rare condition characterized by severe growth restriction, abnormally small head size, and developmental problems. The study examined 17 affected individuals from 14 families, all carrying damaging variants in both copies of WDHD1, a gene that encodes a critical scaffolding protein needed to assemble the cellular machinery that copies DNA. Laboratory experiments using patient-derived cells revealed that these variants reduce WDHD1 protein levels and impair DNA replication, causing slower replication fork speed, spontaneous DNA damage, and abnormal nuclear structures including micronuclei and misshapen cell nuclei. Notably, some patients also experienced acute liver failure, expanding the known clinical spectrum of this condition beyond classic MPD features. These findings establish WDHD1 as an essential gene for normal human growth and development, and add a new entry to the growing list of DNA replication disorders that cause primordial dwarfism. For clinicians, this discovery enables more accurate genetic diagnosis of affected patients and improves understanding of how DNA replication defects translate into severe developmental disease.
American journal of human genetics
Source →A randomized clinical study comparing trabectedin combined with regional hyperthermia with trabectedin in patients with advanced soft tissue sarcoma: HyperTET, a German Interdisciplinary Sarcoma Group trial.
Schuebbe G, et al
A randomized clinical trial called HyperTET, conducted by the German Interdisciplinary Sarcoma Group, investigated whether adding regional hyperthermia (localized heat therapy) to the chemotherapy drug trabectedin could improve outcomes for patients with advanced soft tissue sarcoma who had already received prior treatment. The study enrolled 118 patients across five centers between 2014 and 2021, randomly assigning them to receive either trabectedin alone or trabectedin combined with regional hyperthermia every three weeks. The primary endpoint of progression-free survival was not significantly improved by the combination, with median progression-free survival of 3.0 months in the combination arm versus 3.5 months in the trabectedin-alone arm. However, a post hoc exploratory analysis revealed that patients who completed five or more treatment cycles showed a notably longer progression-free survival of 12.8 months with the combination versus 7.8 months with trabectedin alone, suggesting a potential benefit for patients who tolerate extended treatment. Both regimens had manageable safety profiles, with the most common serious side effects being blood, liver, and infection-related events, and no treatment-related deaths occurred in the combination arm. These findings, while not confirming the primary hypothesis, provide a rationale for future studies examining maintenance therapy with trabectedin or the related drug lurbinectedin combined with regional hyperthermia in advanced soft tissue sarcoma.
ESMO open
Source →Predicting hepatocellular carcinoma in people with hepatitis B: a comparison between Cox proportional hazard and machine learning models.
Ramier C, et al
Researchers compared traditional statistical methods with machine learning and deep learning algorithms for predicting hepatocellular carcinoma (HCC), a deadly liver cancer, in patients chronically infected with hepatitis B virus. Using data from 4,370 participants in the French ANRS CO22 HEPATHER cohort, the team tested Cox proportional hazard models against advanced algorithms including Random Survival Forest, Survival Support Vector Machine, Survival XGBoost, and DeepSurv. The traditional Cox models achieved the highest predictive accuracy, with a C-index of 0.84, while machine learning methods scored slightly lower at 0.81 and also showed greater overfitting on this relatively small, imbalanced dataset. Notably, the Cox models were better at capturing the predictive importance of certain lifestyle factors, such as soft drink consumption. These findings reassure clinicians that well-established statistical tools remain reliable and interpretable for HCC risk prediction in hepatitis B patients, and suggest that machine learning does not automatically improve predictions when data are limited.
Journal of epidemiology and population health
Source →Salvage post-chemotherapy retroperitoneal lymph-node dissection: evolving paradigm for marker-positive non-seminomatous germ-cell tumors management.
Nazzani S, et al
Researchers analyzed outcomes of 107 patients with non-seminomatous germ cell tumors (NSGCT) who underwent post-chemotherapy retroperitoneal lymph node dissection (PC-RPLND) despite persistently elevated tumor markers between 2008 and 2023. The study found that surgical removal of residual tumors yielded an overall 5-year survival rate of 68% and recurrence-free survival of 54%, with outcomes varying dramatically depending on the tissue type found during surgery. Patients whose tumors turned out to be post-pubertal teratoma fared best, achieving a 5-year survival rate of 96%, while those with somatic malignancy or fibro-necrotic tissue faced significantly worse prognoses. Larger residual tumor mass, more advanced disease stage, and greater number of prior chemotherapy lines were all associated with higher relapse risk. These findings challenge the traditional approach of defaulting to additional chemotherapy in marker-positive NSGCT patients and support considering surgery — even as a first-line salvage strategy — particularly when teratoma or somatic malignancy is suspected.
British journal of cancer
Source →Complex vaginal natural orifice transluminal endoscopic surgery hysterectomy for symptomatic giant polymyomatous uteri in nulliparous women.
Barber MA, et al
A new study published in Archives of Gynecology and Obstetrics evaluated the safety and feasibility of vaginal natural orifice transluminal endoscopic surgery (vNOTES) hysterectomy in women with very large, multi-fibroid uteruses who had never given birth vaginally — a group traditionally considered challenging for minimally invasive approaches. The prospective case series enrolled 40 patients whose uteri were equivalent in size to a pregnancy of at least 20 weeks, with an average uterine weight exceeding one kilogram. Results showed a mean operative time of approximately 95 minutes, a low complication rate of 8%, and a median hospital stay of just over 23 hours, with no cases requiring conversion to open abdominal surgery. Blood loss, as measured by hemoglobin changes, was modest, and no major safety concerns emerged across the cohort. These findings suggest that vNOTES hysterectomy can offer a viable, minimally invasive alternative to traditional open surgery even in complex cases involving very large fibroids and nulliparous patients, potentially enabling faster recovery and shorter hospitalization.
Archives of gynecology and obstetrics
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