A Well-Curated Cost-Effective Next-Generation Sequencing Panel Identifies a Diverse Landscape of Pathogenic and Novel Germline Variants in a Bone Marrow Failure Cohort in a Resource-Constraint Setting.

The current study is a 4-year experience in diagnosis and screening of inherited and immune bone marrow failure cases using a targeted sequencing panel. A total of 171 cases underwent targeted next-generation sequencing and were categorized as suspected inherited bone marrow failure syndrome (IBMFS) group (106; 62%) and immune/idiopathic aplastic anemia (IAA) group (65; 38%) based on clinical and laboratory criteria. A total of 110 (64%) were pediatric (aged 0 to 12 years) patients and 61 (36%) were adolescent and adult (aged 13 to 47 years) patients.

Acute monocytic leukemia presenting as generalized lymphadenopathy and skin rash in a toddler: highlighting the clinicopathologic mimics.

Acute myeloid leukemia (AML) is the fifth most common malignancy in children. Extramedullary involvement in acute myeloid leukemia is rare and can be seen in soft tissues, central nervous system, skin and lymphoreticular organs. The clinical presentations can often be non-specific and hence, the diagnosis can be very challenging, especially in cases without a prior hematologic diagnosis.