Publications by authors named "A J A Wainstein"
We developed Del-read, an algorithm targeting medium-sized deletions (6-100 bp) in short-reads, which are challenging for current variant callers relying on alignment. Our focus was on Micro-Homolog mediated End Joining deletions (MMEJ-dels), prevalent in myeloid malignancies. MMEJ-dels follow a distinct pattern, occurring between two homologies, allowing us to generate a comprehensive list of MMEJ-dels in the exome.
View Article and Find Full Text PDFUnlabelled: Despite enormous recent advances in stage IV melanoma treatment, it continues to have a significant mortality. Five-years survival is below 50% even when granted full access to effective therapeutic regimens. Considering the real world, mostly with low or medium-income countries like Brazil, where 75% of population depends on public health system receiving ineffective Dacarbazine chemotherapy, more than 95% of stage IV patients are dead before 5 years.
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- - Merkel cell carcinoma (MCC) is a rare and aggressive skin cancer with low survival rates, primarily treated through surgery and radiation, as highlighted by the Brazilian Society of Surgical Oncology's guidelines on its management.
- - The consensus emphasizes the importance of comprehensive staging, including imaging techniques like PET or CT scans, and recommends that all potential MCC cases be evaluated by a multidisciplinary team, including discussions in tumor boards to prevent treatment delays.
- - For early-stage patients (clinical stage I or II), local excision and sentinel lymph node biopsy are advised, while those with positive lymph nodes should receive radiation therapy, and advanced cases should consider participation in clinical trials for treatment options.
Spliceosome machinery mutations are common early mutations in myeloid malignancies; however, effective targeted therapies against them are still lacking. In the current study, we used an high-throughput drug screen among four different isogenic cell lines and identified RKI-1447, a Rho-associated protein kinase inhibitor, as selective cytotoxic effector of mutant cells. RKI-1447 targeted mutated primary human samples in xenografts models.
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