Latest Research
All publications from the Cancer3.AI database, newest first.
Causative Role for a BRCA2 Germline Pathogenic Variant in External Auditory Canal Squamous Cell Carcinoma.
Camacho-Valenzuela J, et al
Researchers report a rare case of external auditory canal squamous cell carcinoma (EACSCC), a cancer affecting only 1.6 in a million people, in a 66-year-old woman who carried a hereditary BRCA2 gene mutation and had a prior history of breast cancer. Genomic analysis of the tumor revealed loss of the healthy copy of the BRCA2 gene, a hallmark finding suggesting the mutation played a direct role in cancer development. The tumor also showed signs of homologous recombination repair deficiency, a state in which cells cannot properly fix DNA damage, along with a dominant mutational pattern linked to APOBEC enzymes and an additional mutation in the TP53 tumor suppressor gene. This is among the first cases to provide molecular evidence that BRCA2 germline mutations may contribute to the development of this extremely rare ear canal cancer. These findings are clinically significant because patients with BRCA2-related cancers may benefit from targeted therapies such as PARP inhibitors, opening a potential new treatment avenue for this difficult-to-treat malignancy.
Genes, chromosomes & cancer
Source →Clinical Outcomes of Lobular Carcinoma In Situ: Risk of Invasive Cancer Development.
Woen D, et al
A new study published in the Journal of Breast Cancer examined the clinical outcomes of lobular carcinoma in situ (LCIS), a noninvasive breast lesion known to increase the risk of invasive cancer. Researchers retrospectively analyzed 106 patients diagnosed with pure LCIS between 2008 and 2018, focusing on whether the hormone-blocking drug tamoxifen and the specific histologic subtype of LCIS influenced the likelihood of developing invasive cancer. Over a median follow-up of approximately 67.5 months, 8.5% of patients developed invasive cancer, with a numerically lower rate in tamoxifen users compared to non-users, though this difference did not reach statistical significance. Importantly, patients with pleomorphic LCIS, a more aggressive subtype, had a significantly higher rate of invasive cancer development (30%) compared to those with classic LCIS (6.3%). These findings suggest that the histologic subtype of LCIS should play a central role in guiding follow-up schedules and treatment decisions, with pleomorphic LCIS warranting closer surveillance and more proactive management.
Journal of breast cancer
Source →Risk factors for ductal carcinoma in situ: comparisons with invasive breast cancer.
Abe JV, et al
A large study using the Multiethnic Cohort examined risk factors for ductal carcinoma in situ (DCIS), a non-invasive form of breast cancer considered a precursor to invasive disease, across a racially and ethnically diverse group of U.S. women. Researchers found that African American, Native Hawaiian, and Japanese American women faced significantly higher DCIS risk compared to White women, while Latino women showed a non-significant trend toward increased risk. Key risk factors associated with higher DCIS incidence included a family history of breast cancer, Type 2 diabetes, nulliparity, older age at first birth, and current hormone therapy use, whereas having more children and being born outside the U.S. were linked to reduced risk. Notably, smoking was associated with elevated DCIS risk only among Native Hawaiian women, highlighting potential ethnic-specific biological differences. These findings reveal both shared and distinct risk profiles between DCIS and invasive breast cancer, underscoring the need for improved risk stratification tools that can distinguish between slow-growing DCIS lesions and those more likely to progress to invasive disease.
Breast cancer research : BCR
Source →Real-World Outcomes After Radical Cystectomy for Muscle-Invasive Bladder Cancer in Japan: A Nationwide Descriptive Study From the National Clinical Database.
Hatakeyama S, et al
A nationwide study from Japan examined real-world survival outcomes in 3,773 patients who underwent radical cystectomy — surgical removal of the bladder — for muscle-invasive bladder cancer in 2020, using data from the National Clinical Database. The cohort skewed older, with 41% of patients aged 75 or above, and robotic-assisted surgery was the most common surgical approach (44%), while 52% received neoadjuvant chemotherapy prior to surgery. Survival rates declined steadily with advancing age, with the worst outcomes seen in patients aged 80 and older, and women as well as those who did not receive neoadjuvant chemotherapy had modestly lower disease-free and overall survival in unadjusted comparisons. Robotic-assisted and laparoscopic surgical approaches showed comparable survival results, while open surgery was linked to less favorable outcomes. This large-scale real-world analysis highlights significant variability in patient profiles, treatment strategies, and outcomes across Japan, providing a critical baseline for future studies that will adjust for patient risk factors to better understand which treatment approaches benefit which patients most.
International journal of urology : official journal of the Japanese Urological Association
Source →Clinical Experience With Venetoclax-Based Combinations for Relapsed/Refractory or MRD-Positive NPM1-Mutated Acute Myeloid Leukemia.
Piccini M, et al
A clinical study published in the American Journal of Hematology examined the use of venetoclax-based drug combinations in patients with NPM1-mutated acute myeloid leukemia (AML) who had either relapsed, proven refractory to prior treatment, or tested positive for minimal residual disease (MRD), a sensitive marker indicating hidden cancer cells. NPM1 mutations are among the most common genetic alterations in AML and can influence how the disease responds to therapy, making this patient subset a clinically important group to study. The research drew on real-world clinical experience to evaluate how effective and safe venetoclax combinations were in this specific setting, where standard treatment options are often limited. Findings from the study provide clinicians with practical guidance on integrating venetoclax-based regimens into the management of NPM1-mutated AML beyond the frontline setting, including the challenging scenario of MRD-positive disease. These results are meaningful for patients and hematologists alike, as they suggest venetoclax combinations may offer a viable therapeutic strategy for a genetically defined AML population with high unmet medical need.
American journal of hematology
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