Case Report: A prenatal diagnosis of osteogenesis imperfecta in a patient with a novel pathogenic variant in COL1A2.

Osteogenesis imperfecta is considered a rare genetic condition which is characterized by bone fragility. In 85% of cases, it is caused by mutations in COL1A1 and COL1A2 genes which are essential to produce type I collagen. We report the case of a female neonate delivered to a 27-year-old women at San Bartolomé Teaching Hospital with a family history of clavicle fracture. A prenatal control with ultrasound was performed to the mother at 29 weeks. A fetus with altered morphology and multiple fractures was found. Therefore, a prenatal diagnosis of osteogenesis imperfecta was performed. The neonate was born with a respiratory distress syndrome and an acyanotic congenital heart disease. Therefore, she remained in NICU until her death. We highlight the importance of prenatal diagnosis, genetic counseling and a multidisciplinary evaluation in this type of pathologies and report a new probably pathogenic variant in the COL1A2 gene detected by exomic sequencing in amniotic fluid.

[Mutations in the BCR-ABL1 gene in a peruvian patient with acute lymphoblastic leukemia resistant to therapy]. / Mutaciones en el gen BCR-ABL1 en un paciente peruano con leucemia linfoblástica aguda resistente a terapia.

CONTEXT: The fusion gene BCR-ABL1 is present in at least the fourth part of B-cell acute lymphoblastic leukemia adult cases. Patients with this fusion gene are candidates to tyrosine kinase inhibitors treatment, and the response to this therapy can be measure by quantification of BCR-ABL1 transcripts. Some patients relapse because the presence of mutations in the tyrosine kinase domain of BCR-ABL1. CASE REPORT: This is a report of a patient with BCR-ABL1 who initially achieved molecular response with imatinib therapy, relapsing after fifteen months. The treatment was changed to dasatinib, but the patient doesn't achieve molecular response. Retrospectively, we analyzed the tyrosine kinase domain of BCR-ABL1 and we found three mutations (E459K, E255K and V299L). CONCLUSIONS: We conclude that gain of mutations during treatment with TKIs has strong impact in the progress of disease, being relevant the detection of BCR-ABL1 mutations in relapsed patients or in case of BCR-ABL1 persistence.