Table 2.

Main characteristics of the patient and diagnostic findings.

Main Characteristics of the Patient and Diagnostic Findings
Age (years)	27
Sex	Male
Congenital abnormalities	None
Comorbidities	Left brachial plexus injury; Epilepsy
Family history	Father†; Mother† (leukemia)
Complete blood count	WBC 3.200/µL Neutrophils 850 × 10^6/µL Lymphocytes 1700 × 10^6/µL Monocytes 500 × 10^6/µL Eosinophils 150 × 10^6/µL Basophils 100 × 10^6/µL Hemoglobin 14.1 g/dL Platelets 196.000/µL Blasts < 2%
ANA	Negative
HBV, HCV, HIV	Negative
Bone marrow aspirate	Trilinear dysplasia, blasts 3%
Karyotype	46, XY [20]
NGS analysis on 52 genes commonly mutated in MDS	No mutation
DEB and Cell cycle test	Negative
Telomere length	<33° percentile
Somatic and germline testing for DC associated mutations	c.835G > A p.Ala279Thr and c.833C > T p.Pro278Leu mutation in heterozygosity in TERT gene
Hepatic elastometry	Absence of steatosis or fibrosis
Pulmonary CT scan	No signs of fibrosis

Abbreviations: ANA, Anti-neutrophils antibodies; CT, computed tomography; HBV, Hepatitis B Virus; HCV, Hepatitis C Virus; HIV, human immunodeficiency virus; NGS, Next Generation Sequencing; WBC, White Blood Cell.