The first case of peripheral T cell lyphoma with a CSF3R variant resulted in relapsing febrile neutropenia and aplastic anemia

AbstractColony-stimulating factor 3 receptor (CSF3R) gene mutations have been previously identified in chronic neutrophilic leukemia, atypical chronic myeloid leukemia, chronic myelomonocytic leukemia, de novo acute myeloid leukemia, and severe congenital neutropenia, although there is limited data regarding lymphoid malignancies. Here, we present the first case of peripheral T cell lymphoma withCSF3R variant that developed persistent neutropenia in the follow-up visit and aplastic anemia after autologous hematopoietic stem cell transplantation. Next-generation sequencing (NGS) was performed on bone marrow aspiration (Qiagen clinical insight-QCI ™).CSF3R single nucleotide variant (transcript variant 4), 46.0% (of 1081 reads) of variant allele fraction on exon 16 (lying to intronic region), nucleotide NM_172313.3, g36932463A  >  g, c.2041-35 T >  C was identified by NGS. The case study presented here is an example of use of NGS in diagnosis, classification, prognostic or response indicator of hematologic malignancies, and identification of targeted therapy options in clinical practice. Additional work is needed to understand the clinical significance of this mutation.
Source: Journal of Hematopathology - Category: Pathology Source Type: research