Publications by authors named "Marta Baragano"
Article Synopsis
- Fanconi anemia (FA) is a rare genetic disorder marked by varying symptoms and significant chromosome fragility, leading to severe health issues like cancer and bone marrow failure.
- The Spanish Registry of Patients with FA gathered data from 227 patients over 30 years, revealing an 86% cumulative cancer incidence by age 50, with outcomes differing based on chromosome fragility and specific gene mutations.
- Findings suggest that patients with mutations allowing some protein function (genetic hypomorphism) tend to have better health outcomes, indicating potential for new therapies that could enhance mutant FA protein function to improve patient prognosis.
Plerixafor has been recently approved by the European Medicines Agency for adult patients who have failed other mobilization strategies. Experience in children, however, is extremely limited. We describe the experience of the use of this drug in 8 children under a compassionate-use program in 3 Italian and 2 Spanish centers.
View Article and Find Full Text PDFImmunohistochemical study as a tool in differential diagnosis of pediatric malignant rhabdoid tumor.
Appl Immunohistochem Mol Morphol
March 2010
Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression.
View Article and Find Full Text PDF