Publications by authors named "M J Kool"

Article Synopsis
  • MYC and MYCN are important genes related to a type of brain cancer called medulloblastoma, which can be very hard to treat.
  • Researchers studied many cases of this cancer to find different types and how they affect patients' chances of survival.
  • They discovered that some MYC-amplified tumors are very high-risk and don’t respond well to treatment, while others can lead to better outcomes based on different factors.
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Article Synopsis
  • - The study focused on treating high-risk M+ medulloblastoma patients through a specific chemotherapy and radiation protocol, including multiple high-dose drugs and tailored dosages based on age and response to treatment.
  • - Out of 89 enrolled patients, the median age was 8.8 years, and the study reported 5-year overall survival at 75.9% and 15-year event-free survival at 66.5%, with some negative outcomes linked to disease progression during treatment.
  • - Subgroup analysis indicated that patients with Sonic Hedgehog (SHH) tumors and those with certain genetic mutations had significantly worse event-free survival rates compared to other subgroups in the study.
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Urachal cyst is a clinical malformation caused by failure of the allantois to obliterate during embryological development. Because of its rare presentation in adults, urachal cysts are often incorrectly diagnosed. Delay in diagnosis can cause complications such as peritonitis, fistula, sepsis, or even malignant manifestation.

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Sonic hedgehog subgroup of medulloblastoma (SHH-MB) is characterized by aberrant activation of the SHH signaling pathway. An inhibition of the positive SHH regulator Smoothened (SMO) has demonstrated promising clinical efficacy. Yet, primary and acquired resistance to SMO inhibitors limit their efficacy.

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Background: Certain paediatric nervous system malignancies have dismal prognoses. Retinoic acid (RA) is used in neuroblastoma treatment, and preclinical data indicate potential benefit in selected paediatric brain tumour entities. However, limited single-agent efficacy necessitates combination treatment approaches.

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