Latest Research
All publications from the Cancer3.AI database, newest first.
MYD88 gene and protein: molecular architecture, signalling mechanisms and clinical implications in lymphoid malignancies.
Banerjee Nair S, et al
This review article examines the MYD88 gene and its encoded adaptor protein, focusing on its molecular structure, signalling mechanisms, and role in lymphoid cancers. The key finding highlighted is the somatic L265P mutation in MYD88, which acts as a gain-of-function alteration driving abnormal activation of the NF-κB cell survival pathway and is found in over 90% of cases of lymphoplasmacytic lymphoma and Waldenström macroglobulinaemia, as well as in significant proportions of other B-cell malignancies. The review explains how this single amino acid change causes continuous assembly of a protein complex called the myddosome, leading to aberrant activation of Bruton tyrosine kinase (BTK) and sustained cancer-promoting signalling. Clinically, MYD88 mutation testing serves as a powerful diagnostic biomarker to distinguish between similar-looking lymphoma subtypes and can be detected through minimally invasive liquid biopsy techniques. The prognostic impact of the L265P mutation is context-dependent: it is associated with better outcomes in Waldenström macroglobulinaemia but with worse survival in diffuse large B-cell lymphoma. These findings are directly relevant to patient care, as MYD88 L265P status predicts response to BTK inhibitor therapies, though co-occurring mutations such as CXCR4 can reduce treatment effectiveness.
Journal of clinical pathology
Source →The Value of SSTR PET for Detection, Definition, and Ongoing Management of Meningioma.
Jain R, et al
A new review published in Radiology examines the emerging role of somatostatin receptor (SSTR) PET imaging in the diagnosis and management of meningiomas, the most common primary brain tumors. Because meningiomas strongly express somatostatin receptors on their cell surfaces, SSTR PET scans can detect these tumors with greater sensitivity than conventional MRI, particularly in difficult anatomical locations such as the skull base and areas with bone involvement. The imaging technique also enables more precise delineation of tumor boundaries, which is critical for planning surgery and radiation therapy. Growing evidence suggests that patterns of SSTR uptake may predict recurrence risk and help monitor treatment response over time. Two clinical cases from the authors' institution illustrate how SSTR PET changed both the diagnosis and the chosen treatment strategy for individual patients. These findings position SSTR PET as a valuable addition to the standard toolkit for managing meningioma across all stages of care.
Radiology
Source →Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.
Schnorrenberg J, et al
Researchers investigated whether off-target sequencing reads — data typically discarded from small targeted gene panels — could be repurposed to generate genome-wide copy number variation (CNV) profiles in brain tumors, potentially replacing the need for separate methylation array testing. The study analyzed 60 central nervous system tumor samples, including glioblastomas, oligodendrogliomas, medulloblastomas, and others, using a compact custom sequencing panel covering less than 0.2 megabases of the genome. Comparing results to the current standard methylation array method across 527 chromosomal alterations, the NGS-based approach achieved 95% concordance, correctly identifying all 19 focal amplifications and most critical deletions such as CDKN2A/B. In a further cohort of 58 meningiomas, the method supported molecular upgrading of tumor grade in 16% of cases that appeared lower grade on conventional microscopic examination, directly impacting clinical management decisions. These findings demonstrate that a single, cost-effective sequencing panel already used in routine diagnostics can simultaneously provide mutation profiling and genome-wide CNV analysis, streamlining workflows and potentially improving access to comprehensive tumor diagnostics without additional testing.
Neuropathology and applied neurobiology
Source →Uncovering BAP1 deubiquitination landscape enhances mechanism elucidation and therapeutic precision for BAP1-deficient pancancers.
Hong JH, et al
Researchers conducted a comprehensive pancancer study to map the full landscape of proteins regulated by BAP1 (BRCA1-associated protein 1), a tumor suppressor gene frequently mutated in aggressive cancers including cholangiocarcinoma, mesothelioma, uveal melanoma, and renal cell carcinoma. Using an advanced proteomics technique combined with genomic and functional analyses, the team discovered that BAP1 plays a previously unrecognized role in DNA repair, specifically by controlling the activity of three key proteins involved in detecting and correcting DNA damage across the entire genome. The study further identified two enzymes, LSD1 and PARP1, as critical vulnerabilities in BAP1-deficient cancer cells, meaning that tumors lacking BAP1 become unusually dependent on these enzymes for survival. When researchers simultaneously blocked LSD1 and PARP1 using existing inhibitor drugs (SP2509/SP2577 and olaparib), the combination synergistically disrupted DNA repair, triggered cancer cell death, shrank tumors, and extended survival in multiple laboratory and animal models of BAP1-mutant cancers. These findings are significant because they provide a unified mechanistic framework explaining how BAP1 loss drives cancer across different tissue types and immediately suggest a clinically actionable drug combination that could benefit patients with BAP1-mutant tumors regardless of their cancer's origin.
Science translational medicine
Source →Multimodal Cytogenetic and Molecular Approach for the Detection of a Constitutional Balanced Paracentric Inversion Disrupting RB1 in an Infant With Bilateral Retinoblastoma.
Pandey AS, et al
Researchers report a rare case of hereditary bilateral retinoblastoma in a 22-month-old girl caused by a previously undetected structural rearrangement of chromosome 13 that disrupted the RB1 tumor suppressor gene. The infant presented with eye redness and a white pupil reflex, and imaging confirmed tumors in both eyes; she underwent aggressive chemotherapy and autologous stem cell rescue. Standard genetic panel testing covering 123 cancer-predisposition genes initially failed to identify any mutation in RB1, highlighting a critical diagnostic gap when structural variants are present. Only through chromosomal analysis and optical genome mapping (OGM) was a balanced paracentric inversion discovered, with its breakpoint falling precisely within intron 17 of RB1, effectively silencing the gene without altering its DNA sequence in ways detectable by conventional sequencing. This case demonstrates that children with retinoblastoma who test negative on standard sequencing panels may still carry disease-causing structural rearrangements, and that advanced techniques such as OGM are essential for complete genetic diagnosis and family counseling.
Genes, chromosomes & cancer
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