The first case of peripheral T cell lyphoma with a CSF3R variant resulted in relapsing febrile neutropenia and aplastic anemia
Küçük Resim Yok
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer Heidelberg
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Colony-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 with CSF3R 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 (TM)). 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.
Açıklama
Anahtar Kelimeler
CSF3R, Peripheral T Cell Lymphoma, Febrile Neutropenia, Aplastic Anemia, Mutations, Organization
Kaynak
Journal Of Hematopathology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
15
Sayı
4
