Latest Research
All publications from the Cancer3.AI database, newest first.
Conjunctival melanoma genomic analysis reveals intermediate tumor mutation burden and genomic overlap with cutaneous melanoma.
Dimitriou F, et al
Researchers conducted a comprehensive genomic study of conjunctival melanoma (CJM), a rare and aggressive eye cancer, by sequencing the exomes of both primary and metastatic tumors. The analysis revealed that CJM is a molecularly distinct subtype of melanoma that shares genomic characteristics with both cutaneous (skin) and mucosal melanomas, suggesting it occupies a unique biological middle ground. Importantly, CJM tumors displayed an intermediate tumor mutational burden—a measure of how many genetic mutations are present in a tumor—that was significantly higher than most cancers catalogued in The Cancer Genome Atlas, a major reference database. This elevated mutational burden indicates that patients with locally advanced or metastatic CJM may benefit from immune checkpoint inhibitor therapies, a class of immunotherapy drugs that have transformed treatment of other melanoma subtypes. The study also identified targetable mutations and found that certain genetic alterations were linked to specific tumor locations, such as the bulbar (eyeball-surface) region. These findings provide clinicians with improved guidance for selecting personalized treatment strategies for patients with this difficult-to-treat malignancy.
NPJ precision oncology
Source →Challenges in diagnosis of primary penile tumor of the endodermal sinus in infants.
Castro-García MX, et al
Researchers from Chile report an exceptionally rare case of an extragonadal endodermal sinus tumor — also called a yolk sac tumor — originating in the penis of an 18-month-old boy, highlighting the significant diagnostic challenges posed by this unusual presentation. The infant presented with a growing inguinoscrotal mass, and imaging confirmed the tumor arose from the corpus cavernosum with spread to the inguinal region and lungs, classifying it as stage IV disease. Surgeons performed a complete resection while preserving penile and testicular structures, followed by six cycles of bleomycin, etoposide, and carboplatin chemotherapy. Alpha-fetoprotein (αFP), a blood protein biomarker, proved invaluable for both diagnosis and monitoring, dropping from an initial 4,396 ng/mL to near-normal levels by the end of treatment. At 12 months of follow-up, the child remained disease-free with normal development and intact urinary function. This case demonstrates that even advanced extragonadal penile germ cell tumors in infants can achieve favorable outcomes with organ-sparing surgery and standard chemotherapy, and underscores the importance of αFP monitoring throughout treatment.
Andes pediatrica : revista Chilena de pediatria
Source →PEComa of the Mesentery of the Colon in a Child: A Peculiar Tumor that Evades a Common Diagnosis.
Sridhar A, et al
Researchers from a tertiary hospital report a rare case of PEComa — a perivascular epithelioid cell tumor — arising in the mesentery of the colon in an adolescent male, adding to only 21 previously documented gastrointestinal PEComa cases worldwide. The patient presented with vague abdominal pain and a palpable lump in the right hypochondrium, symptoms that initially pointed toward more common diagnoses. Diagnosis was ultimately confirmed through immunohistochemistry using HMB-45, a melanin-associated marker characteristic of PEComas, on both biopsy and the surgically excised specimen. The tumor was successfully removed and the patient remains healthy on regular follow-up. This case highlights that PEComas are frequently overlooked in early differential diagnoses due to their rarity and nonspecific clinical presentation, and clinicians — particularly pediatric surgeons — should consider this tumor type when evaluating unusual abdominal masses in young patients.
Journal of Indian Association of Pediatric Surgeons
Source →Inside-Outside Mastoidectomy for Middle Ear Paragangliomas: Surgical Technique and Outcomes.
Ríos-Deidán C, et al
Researchers at Carlos Andrade Marín Specialty Hospital evaluated a combined surgical technique called inside-outside mastoidectomy for treating middle ear paragangliomas, rare vascular tumors also known as glomus tympanicum. The study followed eight female patients with varying tumor stages treated between 2018 and 2024, all of whom presented with conductive hearing loss and pulsatile tinnitus. Complete tumor removal was achieved in all patients, with no recurrences observed over an average follow-up period of nearly three years, demonstrating strong tumor control. Complications were limited to tympanic membrane perforations in three patients and one case of temporary facial nerve weakness, both of which are recognized risks of ear surgery. Hearing improvement was documented in roughly one-third of patients, suggesting meaningful functional benefit alongside oncological success. These findings support inside-outside mastoidectomy as a safe and effective approach for this challenging condition, though larger studies are needed to confirm the results.
Cureus
Source →Atypical morphological features in secondary and tertiary hyperparathyroidism mimic malignancy: a detailed clinicopathological study.
Robert-Montaner Ï, et al
A new study published in Pathology examined the microscopic features of parathyroid glands surgically removed from patients with secondary or tertiary hyperparathyroidism caused by chronic kidney failure. Researchers analyzed 154 cases across two cohorts and found that many tissue samples displayed features normally associated with malignancy, including fibrous banding, invasive growth patterns, and abnormal cell architecture. Despite these alarming histological appearances, clinical follow-up showed no recurrence or spread of disease in the vast majority of cases, even in one patient whose tissue met the formal diagnostic criteria for parathyroid cancer. The study concludes that such atypical features are a common and benign consequence of the disease process in this patient population and should not be automatically interpreted as cancer. This finding carries significant practical importance for pathologists and surgeons, as misdiagnosis could lead to unnecessary aggressive treatment in patients who already carry the burden of chronic renal disease.
Pathology
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