Latest Research
All publications from the Cancer3.AI database, newest first.
A rare presentation of uterine cavity embryonal rhabdomyosarcoma in a preschool girl: a case report.
Kajal P, et al
This case report describes an exceptionally rare presentation of embryonal rhabdomyosarcoma (RMS), a malignant soft tissue cancer, arising in the uterine cavity of a 3-year-old girl. The child had experienced progressive vaginal mass protrusion and bloody discharge for over a year before diagnosis, with imaging revealing a tumor occupying the entire uterus. She underwent radical surgical removal of the uterus, and pathology confirmed the botryoid variant of embryonal RMS originating from the uterine cervix with extension into the vagina. The case highlights the importance of recognizing RMS as a potential diagnosis in very young girls presenting with vaginal masses or unusual discharge, as early and accurate diagnosis is critical for timely treatment. Clinicians are reminded that prognosis in RMS depends on tumor location, size, extent of spread, and histological subtype, with vaginal lesions generally carrying better outcomes than cervical ones.
International journal of surgery case reports
Source →Impact of atypical extra-villous trophoblast foci on the natural history and management of post-molar gestational trophoblastic neoplasia.
Schoenen S, et al
Researchers from the Belgian Gestational Trophoblastic Diseases Registry conducted a retrospective multi-center study to determine whether a specific pathological finding — atypical extra-villous trophoblast foci — found in complete hydatidiform moles (a type of abnormal pregnancy) could predict how aggressive the resulting cancer, gestational trophoblastic neoplasia, would become. Among 216 patients diagnosed with complete hydatidiform mole between 2017 and 2022, 56 developed post-molar gestational trophoblastic neoplasia, and 68% of those cases showed atypical extra-villous trophoblast foci on pathology review. Patients with these atypical foci had significantly higher disease risk scores, more frequent lung metastases, steeper rises in the tumor marker hCG, and all cases requiring aggressive multi-drug chemotherapy occurred exclusively in this group. These findings suggest that identifying atypical extra-villous trophoblast foci at the time of initial pathology review could serve as an early warning sign, allowing clinicians to prepare for more intensive monitoring and treatment in affected patients.
International journal of gynecological cancer : official journal of the International Gynecological Cancer Society
Source →An Audit of Accessibility and Actionability of Molecular Profiling for Patients with Cancer of Unknown Primary at a Tertiary Care Centre.
Abdulalem K, et al
Researchers at Princess Margaret Cancer Centre conducted a retrospective audit examining how molecular profiling tools, including next-generation sequencing (NGS), are being used in the care of patients with cancer of unknown primary (CUP), a difficult-to-treat condition in which the original site of a patient's cancer cannot be identified. The study reviewed patient records from January 2019 to April 2024 and found that while 82% of the 28 identified patients received NGS analysis, all of them received results only late in the course of their disease. Critically, all patients accessed molecular profiling exclusively through clinical trials, charitable access programmes, or private sources outside the hospital network, indicating a complete absence of standardized institutional access. Only 13% of patients who underwent molecular analysis had their treatment modified as a result, and even then only as a third-line therapy. These findings reveal a significant gap between the current scientific understanding of targeted therapy for CUP and actual clinical practice, suggesting that earlier and standardized integration of molecular profiling into CUP workup could meaningfully improve patient outcomes.
Clinics and practice
Source →Pathological complete response following neoadjuvant chemoimmunotherapy in cancer of unknown primary: a case report.
Peng Y, et al
Researchers report a case of a 61-year-old male diagnosed with cancer of unknown primary (CUP) presenting as mediastinal lymph node metastases, a condition notoriously difficult to treat due to the inability to identify the original tumor site. Genomic sequencing revealed mutations in TP53 and RB1 genes suggesting a likely lung origin, leading a multidisciplinary team to administer three cycles of neoadjuvant chemoimmunotherapy combining nivolumab with albumin-bound paclitaxel and carboplatin before surgery. Following treatment, the patient underwent video-assisted thoracoscopic surgery, and postoperative pathology demonstrated a pathological complete response, meaning no viable cancer cells were found in the removed tissue. Circulating tumor DNA monitoring for minimal residual disease remained negative throughout, and at over 25 months of follow-up the patient showed no recurrence and maintained a good quality of life. This case suggests that neoadjuvant chemoimmunotherapy can achieve remarkable outcomes even in CUP patients without a confirmed primary tumor, and highlights the value of multidisciplinary decision-making and molecular profiling in guiding treatment. The findings offer hope for an underserved patient population and may inform future clinical strategies for intrathoracic nodal CUP presentations.
Translational lung cancer research
Source →MALAT1 rs619586 as a potential genetic marker of pituitary adenoma susceptibility and aggressiveness.
Juskiene M, et al
Researchers conducted a case-control study to investigate whether genetic variants in the MALAT1 long non-coding RNA gene influence the risk of developing pituitary adenomas, which are slow-growing tumors of the pituitary gland that can cause serious hormonal and neurological complications. Among 390 participants, including 145 patients with pituitary adenomas and 245 healthy controls, three MALAT1 gene variants were analyzed by real-time PCR genotyping, alongside immunohistochemical assessment of tumor aggressiveness markers Ki-67 and p53. The study found that only one variant, rs619586, reached statistical significance after strict correction for multiple testing, with carriers of the G allele being over four times more likely to develop a pituitary adenoma compared to non-carriers. This G allele was also significantly associated with more aggressive tumor features, including larger tumor size, invasiveness into surrounding tissue, and higher rates of recurrence. Additionally, patients carrying the common AA genotype of rs619586 showed higher p53 protein expression in their tumors compared to those with the AG genotype, suggesting a biological link between this variant and tumor behavior. These findings indicate that MALAT1 rs619586 could serve as a clinically useful genetic marker to identify individuals at elevated risk for pituitary adenoma and to predict more aggressive disease courses.
Frontiers in endocrinology
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