PB0738 - Platelet count and its correlation in mutated myeloid neoplasm patients; a single center experience from Pakistan

Monday, June 26, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

NA

Nida Anwar

Consultant Hematologist
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan

Co-Author(s)

NF

Naveena Fatima

Research Officer
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan
aisha Arshad, PhD schlar

Ph.D scholar (Hematology)
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi,Pakistan, Sindh, Pakistan
AJ

Aisha Jamal

Consultant Hematologist
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan
QR

Qurat-ul-Ain Rizvi

Consultant Hematologist
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan
AK

Anum Khalid

Clinical Research Associate
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan
SS

Saima Siddiqui

HOD Molecular Lab / Consultant Haematologist
National Institute of Blood diseases and Bone Marrow Transplantation, Street 2/A, Block 17, Gulshan-e-Iqbal, KDA Scheme 24, Karachi, Sindh, Pakistan.
Karachi, Sindh, Pakistan
TF

Tasneem Farzana

Medical Director
National Institute of Blood Diseases and Bone Marrow Transplantation
Karachi, Sindh, Pakistan

Background: Genetic abnormalities have been frequently reported in myeloid neoplasms and its correlation with phenotype has been assessed extensively yet scarce data is available in our region.

Aims: We aimed to observe the association between genetic abnormalities using next generation sequencing (NGS) and the platelet count (PC) in our patients.

Methods: A total of 36 patients with myeloid neoplasm were analyzed. Informed consent and detailed history were taken. The NGS analysis for a panel of 54 genes including tumor suppressor and oncogenic hotspots associated with myeloid malignancies was performed using DNA samples. Mann-Whitney U test was performed to observe the association.

Results: Median hemoglobin (g/dl), PC (x109/L) and total leucocyte count (x109/L) was 9.5(4-16), 90 (12-477) and 3.5 (1-115) respectively. Bleeding was present in 24 (66%) patients with median PC 47.5 x109/L. Mutations were detected in 17 (47%) in which 3 (8%) patients had more than one mutated gene including RUNX1, CDKN2A, GATA2, ASXL1, BCORL1, TET2, EZH2. Three (8%) patients had NRAS, ASXL1, RUNX1. TET 2 and TP53 found in each of the 2(6%) patients. However, CEBPA, CDKN2A and DNMT3A were found in each of a single patient. Median PC of AML and MDS patients having mutations was lower in comparison to the patients having no mutations [19 (12-55), 72 (3-122] respectively. However, the association of PC with mutations was found significant in MDS patients (72 vs 119 x109/L, p= 0.008). In AML, patients with CEBPA and in MDS patients with TP53 mutations had the lowest PC.

Conclusion(s): Our study revealed that MDS patients with genetic mutations had lower PC than AML and certain mutations were found to have correlation with lowest PC such as TP53 and CEBPA. The association of genetic mutations with PC could become a significant predictor and might help in the clinical management of patients.