Publications by authors named "Lilia Aguilar-Lopez"
Article Synopsis
- The most common genetic issue in chronic lymphocytic leukemia (CLL) patients is a deletion at chromosome band 13q14, which can vary in size and impact prognosis, particularly if it includes the larger associated gene deletions.
- A specific CLL case showed a chromosomal translocation (t(12;13)) along with a deletion affecting both crucial genes in the 13q14 region, indicating a level of genomic instability.
- Genomic instability in this patient was evidenced by various cytogenetic abnormalities, including chromosomal breaks and telomere shortening, suggesting a complex interaction between the deletions and the stability of the genome.
F8 inversions of introns 22 and 1 confer a moderate risk of inhibitors in Mexican patients with severe hemophilia A. Concordance analysis and literature review.
Blood Cells Mol Dis
July 2018
Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development.
View Article and Find Full Text PDFB-cell Acute Lymphoblastic Leukemia With t(9;22)(q34;q11) Translocation and Clonal Divergence Through ider(22) Chromosome and t(13;17)(q14;q25) Translocation.
Ann Lab Med
March 2016
Introducction: Acute lymphoblastic leukemia (ALL) is a clonal disease characterized by a proliferation of immature cells. In immunophenotypic, cytogenetic and molecular studies, it is a heterogeneous disease with diverse manifestations and prognoses. The treatment is complex and is associated with complications during its course.
View Article and Find Full Text PDFBackground: Chronic myeloid leukemia represents 15 % of all the leukemias in adults. With the introduction of tyrosine kinase inhibitors, overall survival at 10 years is 80-90 %. The objective was to describe the epidemiology, complete cytogenetic response and major molecular response with tyrosine kinase inhibitors in patients with chronic myeloid leukemia.
View Article and Find Full Text PDFObjective: to show clinical and therapeutic findings in patients with diagnosis of acute megakaryoblastic leukemia (AML).
Methods: twenty four patients with diagnosis AML was carried out. Clinical, laboratory survey results and treatment response were studied.
Hemophilia A (HA) is one of the most common inherited bleeding disorders caused by FVIII gene mutations. Inversion of intron 22 (inv22) originates 50% of cases of severe HA and is a major risk factor for inhibitor development. Inversion of intron 1 (inv1) has been reported to occur in 2-3% of severe HA patients.
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