Publications by authors named "N Gebauer"
The complex and heterogeneous genomic landscape of multiple myeloma (MM) and many of its clinical and prognostic implications remains to be understood. In other cancers, such as breast cancer, using whole-exome sequencing (WES) and molecular signatures in clinical practice has revolutionized classification, prognostic prediction, and patient management. However, such integration is still in its early stages in MM.
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- - Tenosynovial giant cell tumor (TGCT) is a rare tumor that arises from the synovium in joints and tendon sheaths, often associated with genetic changes involving the CSF1 gene; symptoms like pain and swelling are common but not specific, requiring MRI and biopsy for accurate diagnosis.
- - A case study of a 45-year-old man initially diagnosed with Erdheim-Chester disease was later correctly identified as TGCT through whole exome sequencing, which showed a CSF1::GAPDHP64 fusion; he was treated successfully with pegylated interferon and imatinib, stabilizing his condition.
- - Single-cell transcriptome analysis highlighted seven cell clusters and revealed that neoplastic cells attract macroph
Article Synopsis
- A case is reported involving a patient with advanced non-small cell lung adenocarcinoma who has been on crizotinib therapy and developed a new missense mutation in the ALK gene associated with resistance to this treatment.
- The EML4/ALK translocation remained detectable despite the patient's cancer recurrence, and a 3D analysis suggested that the mutation contributes to crizotinib resistance while showing potential sensitivity to other drugs like brigatinib and lorlatinib.
- The study emphasizes the effectiveness of combining preclinical and clinical approaches, including targeted sequencing and in vitro validation, which could enhance the use of molecular tumor boards in improving individualized cancer treatment strategies.