Laboratory screening tests and hematologic features of the IBMFSs organized by typical first presenting cytopenia
| . | . | Macrocytosis . | |||||
|---|---|---|---|---|---|---|---|
| Thrombocytopenia . | Anemia . | Neutropenia . | |||||
| TAR . | TBD . | FA . | DBA . | SDS . | GATA2 deficiency . | SCN . | |
| Screening test | Arm X-ray | Decreased lymphocyte telomere lengths | Spontaneous and DEB/MMC-induced chromosome breaks and radial configurations | Elevated red cell adenosine deaminase | Decreased pancreatic isoamylase and/or trypsinogen | Increased FLT3 ligand | None |
| Peripheral blood | Normal-size platelets | Normal-size platelets, elevated hemoglobin F | Normal-size platelets, elevated hemoglobin F | Reticulocytopenia, elevated hemoglobin F | B- and T-cell defects, elevated hemoglobin F, neutrophil chemotaxis defects | Monocytopenia B and NK cell deficits, CD4:CD8 ratio <1 | |
| Pre-MDS/AML bone marrow findings | Decreased megakaryocytes | Hypocellular, evolving unilineage to trilineage dysplasia | Hypocellular, erythroid dysplasia, cytogenetics: +1q, +3q* | Normocellular, then hypocellular with age; decreased erythroid precursors | Hypocellular, myeloid dysplasia, cytogenetics: del(20)(q 11), i(7)(q10) | Hypocellular, megakaryocytic atypia, fibrosis | Promyelocyte maturation arrest |
| MDS/AML subtype | NA | NA | RCMD, RAEB, RARS, MDS-NOS | NA | Varied | RCC or RAEB (children); RCMD, RAEB, CMML (adults) | Varied |
| MDS/AML cytogenetics | NA | NA | Unbalanced +1q, −7/–7q, +3q* | NA | Abnormal chromosome 7 | Monosomy 7, trisomy 8, trisomy 21 | Varied |
| MDS/AML acquired genetic features | NA | NA | RUNX1* by large genomic events | NA | TP53 | ASXL1 | CSF3R, RUNX1 |
| . | . | Macrocytosis . | |||||
|---|---|---|---|---|---|---|---|
| Thrombocytopenia . | Anemia . | Neutropenia . | |||||
| TAR . | TBD . | FA . | DBA . | SDS . | GATA2 deficiency . | SCN . | |
| Screening test | Arm X-ray | Decreased lymphocyte telomere lengths | Spontaneous and DEB/MMC-induced chromosome breaks and radial configurations | Elevated red cell adenosine deaminase | Decreased pancreatic isoamylase and/or trypsinogen | Increased FLT3 ligand | None |
| Peripheral blood | Normal-size platelets | Normal-size platelets, elevated hemoglobin F | Normal-size platelets, elevated hemoglobin F | Reticulocytopenia, elevated hemoglobin F | B- and T-cell defects, elevated hemoglobin F, neutrophil chemotaxis defects | Monocytopenia B and NK cell deficits, CD4:CD8 ratio <1 | |
| Pre-MDS/AML bone marrow findings | Decreased megakaryocytes | Hypocellular, evolving unilineage to trilineage dysplasia | Hypocellular, erythroid dysplasia, cytogenetics: +1q, +3q* | Normocellular, then hypocellular with age; decreased erythroid precursors | Hypocellular, myeloid dysplasia, cytogenetics: del(20)(q 11), i(7)(q10) | Hypocellular, megakaryocytic atypia, fibrosis | Promyelocyte maturation arrest |
| MDS/AML subtype | NA | NA | RCMD, RAEB, RARS, MDS-NOS | NA | Varied | RCC or RAEB (children); RCMD, RAEB, CMML (adults) | Varied |
| MDS/AML cytogenetics | NA | NA | Unbalanced +1q, −7/–7q, +3q* | NA | Abnormal chromosome 7 | Monosomy 7, trisomy 8, trisomy 21 | Varied |
| MDS/AML acquired genetic features | NA | NA | RUNX1* by large genomic events | NA | TP53 | ASXL1 | CSF3R, RUNX1 |
This table provides an overview of the most common laboratory screening tests and hematologic features of the IBMFSs (in bold); see detailed reviews for additional features.4,5,7,8,18,20,27,28,31,32,36,37,41,49-51
CMML, chronic myelomonocytic leukemia; DEB, diepoxybutane; MMC, mitomycin C; NA, not available; NK, natural killer; NOS, not otherwise specified; RAEB, refractory anemia with excess blasts; RARS, refractory anemia with ringed sideroblasts; RCC, refractory cytopenia of childhood; RCMD, refractory cytopenia with multilineage dysplasia.
Best detected by fluorescence in situ hybridization, array comparative genomic hybridization, or next-generation sequencing techniques because size is not usually detectable at the gross karyotypic level.