RNA sequencing‑based identification of potential targets in acute myeloid leukemia: A case report

Abstract

Acute myeloid leukemia (AML) refers to heterogenous types of blood cancer which possess a complicated genomic landscape, and multiple novel mutational alterations are frequently being reported. Herein, a case report of a 37-year old AML patient is presented, who was diagnosed following laboratory investigation after admission. The patient had thrombocytopenia, and three consecutive blast counts of 40, 30 and 41%, respectively. A blood sample was collected for whole-genome RNA sequencing to understand the transcriptomic profile at the time of diagnosis and compared with a matched female control. Gene expression was quantified using the RSEM software package. Bioinformatics analysis revealed a significant number of differentially expressed genes in the patient, suggesting a marked change in the transcriptomic landscape in this patient. By mining the bioinformatics data and screening the highly expressed genes with ≥80% probability of gene expression, four novel genes were highlighted that may serve as potential future targets in AML patients; Rh associated glycoprotein, succinate receptor 1, transmembrane-4 L-six family member-1 and ADGRA3, although further validation of their value is required.

ADAMTS14, ARHGAP22, and EPDR1 as potential novel targets in acute myeloid leukaemia

“…SNP and mutation analyses revealed a significant number of genetic variations [ 13 ]; the number of novel transcripts is summarised in Table 2 . Among them, exonic NRAS mutations, intronic mutations in nucleophosmin ( NPM1 ), and intronic and exonic mutations in fms-like tyrosine kinase 3 ( FLT3 ) have been detected [ 13 ]. It was previously reported that specific mutations in NPM1 , NRAS and FLT3 are common genetic signatures in AML [ 14 , 15 , 16 ].…”

Whole-transcriptome bioinformatics revealed HTRA3, KRT8, KRT17, and RHEX as novel targets in acute myeloid leukaemia

“…Routine haematology investigations and cytogenetic reports have been revisited in our previous publication. 1 In brief, cytogenetics revealed 47, XX, +8[18]/46, XX[1] karyotype and 88% trisomy 8 with RUNX1 partner transcriptional corepressor 1 (RUNX1T1) abnormality, both of which are characteristics of AML. A post-treatment bone marrow aspirate on 25/9/2018 showed a marked suppression of trilineage haematopoiesis with a relative increase in lymphocytes and macrophages.…”

“…Acute myeloid leukaemia (AML) is a haematological malignancy characterised by sophisticated, heterogeneous genomic signatures, making its clinical management quite challenging (reviewed in 1 ). In this respect, genetic abnormalities are associated with disease prognosis and decisions on targeted therapies for patients.…”