https://orcid.org/0000-0001-9520-1187
KEY POINTS
First Latin America description of this recently described disorder, considered an emergent disease
It is critical to improve the investigation and follow up of patients with germline predisposition in low and middle income countries
ABSTRACT
Germline predisposition to myeloid neoplasms due to ERCC6L2 variants has been recently described as an emerging disorder. We present a 34-year-old Brazilian female patient who was diagnosed with myelodysplastic syndrome. During investigation, a novel homozygous missense variant in exon 10 of ERCC6L2, NM_020207.7 (ERCC6L2:c.1583T>A (p.Leu528His) was found. A somatic NGS panel showed TP53 p.R248W (VAF: 60%). The patient was successfully treated with a full matched myeloablative allogeneic hematopoietic stem cell transplant.
Author notes
JRMC and VW contributed equally to this work.
Acknowledgments: We are grateful for the collaboration of the patient and her family; Dr. Denise Pasqualin from Pathology Department of Hospital Israelita Albert Einstein; all technicians of Cytogenetic laboratories of Hospital Israelita Albert Einstein and Hospital das Clínicas da Faculdade de Medicina da USP, in special to Aline de Medeiros Leal and Mauren Fernanda Moller dos Santos; and to Brazilian Rare Genomes Project team in Hospital Isrealita Albert Einstein.
Funding: WGS study was funded by Brazilian Rare Genomes Project, a public‒private partnership with Hospital Israelita Albert Einstein and Programa de Apoio ao Desenvolvimento Institucional do Sistema Único de Saúde (PROADI-SUS) from the Brazilian Ministry of Health (Law 12.101/2009, protocol number 25000.083098/2019–71).
Conflicts of interest: No conflicts of interest declared.
Ethics statement: The study was approved by the Research Ethics Committee of Hospital das Clínicas da Faculdade de Medicina da USP (CAAE: 57965622.7.0000.0068) in accordance with the guidelines of the Declaration of Helsinki.
