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. 2023 Jan 27;37(3):505–517. doi: 10.1038/s41375-023-01822-2

Table 2.

Baseline diagnostics of suspected BP in pediatric patients.

Test at diagnosis of BP
Physical examination In particular spleen and liver size [cm below the costal margin], extramedullary manifestation of disease
Complete Blood Count

Full white blood cell (WBC) count

Hemoglobin (Hb) and platelet count, neutrophils, lymphocytes, monocytes,

Basophils %, Eosinophils %, Blasts %, Sum of Blasts % + Promyelocytes %

Bone Marrow

Morphology

Blast % and Promyelocytes %

Cytogenetics (for Ph-positive and/or additional chromosomal aberrations) with a minimum of 15 metaphases analyzed

Fluorescent-in-situ-hybridization (FISH) if marrow cytogenetics fails

Trephine biopsy (assessment of focal “nests of blasts” and fibrosis

Flow cytometry and/or cytochemistry Definition of phenotype by expression of cell-surface and cytoplasmic markers (myeloid vs. lymphoid)
Molecular genetics

BCR::ABL1 fusion transcript (e13a2, e14a2, e1a2 or any rare type)

BCR::ABL1 transcript level quantitative analysis (on the IS scale)

Tyrosine kinase domain mutation analysis

NGS myeloid or lymphoid panel

Cerebrospinal Fluid

Cytology

Intrathecal injection for CNS prophylaxis (for details see text)

Human leukocyte antigen (HLA)-typing Donor search for allogeneic stem cell transplantation