Features of syndromic inherited BMF syndromes
| IBMF Subtype . | Hematological . | Extrahematological . | Cancer . |
|---|---|---|---|
| FA | Single cytopenia, global BMF, MDS, and AML. | Skin (eg, cafe au lait spots), skeletal (eg, radial hypoplasia, short stature, “Fanconi facies”), endocrine, genitourinary (eg, single kidney), gastrointestinal (eg, duodenal atresia), and neurological abnormalities. | Hematological (MDS, AML). Squamous cell carcinoma, especially of the head and neck and vulva. Other tumors (eg, liver) are also observed. |
| DC | Single cytopenia, global BMF, MDS, and AML. | The mucocutaneous triad of abnormal skin pigmentation, nail dystrophy, and mucosal leucoplakia. A variety of other abnormalities, including dental (eg, severe caries), gastrointestinal (eg, esophageal stenosis, cirrhosis), genitourinary (eg, phimosis), neurological (eg, cerebellar hypoplasia), ophthalmic (eg, nasolacrimal duct narrowing, retinopathy), pulmonary (eg, pulmonary fibrosis), skeletal (eg, osteoporosis), and vascular abnormalities. | Hematological (MDS, AML). Squamous cell carcinoma, especially of the head and neck and vulva. Other tumors (eg, liver) are also observed. |
| SDS | Single cytopenia (eg, neutropenia), global BMF, MDS, and AML. | Exocrine pancreatic insufficiency, skeletal (metaphyseal dysostosis, rib cage defects), failure to thrive, developmental delay, dental, and variable other abnormalities. | Hematological (MDS and AML). |
| DBA | Typically anemia, but can progress to global BMF, MDS, and AML. | Skeletal (triphalangeal thumb), short stature, craniofacial (eg, high arched palate),cardiac, and urogenital malformations. | Hematological (MDS, AML), rarely osteosarcoma and colon cancer. |
| CDA | Anemia with dyserythropoiesis. | Skeletal abnormalities and splenomegaly. | No |
| SCN | Neutropenia, frequently there are myeloid maturation arrest, MDS, and AML. | Usually, none in patients with ELANE variants. There may be extrahematopoietic abnormalities in non-ELANE–bearing patients. | Hematological (MDS and AML). |
| CAMT and other syndromic thrombocytopenias | Thrombocytopenia, BMF, MDS, and AML. | In typical CAMT, there are usually no other physical abnormalities. Patients with TAR have an absence of radius and sometimes other abnormalities. Those with a fusion of radius and ulna can also have skin, skeletal, and other extrahematopoietic defects. | Patients with classic CAMT can develop leukemia. Those with TAR usually have no cancer risk. Patients with radioulnar fusion due to MECOM variants can develop MDS and AML. |
| IBMF Subtype . | Hematological . | Extrahematological . | Cancer . |
|---|---|---|---|
| FA | Single cytopenia, global BMF, MDS, and AML. | Skin (eg, cafe au lait spots), skeletal (eg, radial hypoplasia, short stature, “Fanconi facies”), endocrine, genitourinary (eg, single kidney), gastrointestinal (eg, duodenal atresia), and neurological abnormalities. | Hematological (MDS, AML). Squamous cell carcinoma, especially of the head and neck and vulva. Other tumors (eg, liver) are also observed. |
| DC | Single cytopenia, global BMF, MDS, and AML. | The mucocutaneous triad of abnormal skin pigmentation, nail dystrophy, and mucosal leucoplakia. A variety of other abnormalities, including dental (eg, severe caries), gastrointestinal (eg, esophageal stenosis, cirrhosis), genitourinary (eg, phimosis), neurological (eg, cerebellar hypoplasia), ophthalmic (eg, nasolacrimal duct narrowing, retinopathy), pulmonary (eg, pulmonary fibrosis), skeletal (eg, osteoporosis), and vascular abnormalities. | Hematological (MDS, AML). Squamous cell carcinoma, especially of the head and neck and vulva. Other tumors (eg, liver) are also observed. |
| SDS | Single cytopenia (eg, neutropenia), global BMF, MDS, and AML. | Exocrine pancreatic insufficiency, skeletal (metaphyseal dysostosis, rib cage defects), failure to thrive, developmental delay, dental, and variable other abnormalities. | Hematological (MDS and AML). |
| DBA | Typically anemia, but can progress to global BMF, MDS, and AML. | Skeletal (triphalangeal thumb), short stature, craniofacial (eg, high arched palate),cardiac, and urogenital malformations. | Hematological (MDS, AML), rarely osteosarcoma and colon cancer. |
| CDA | Anemia with dyserythropoiesis. | Skeletal abnormalities and splenomegaly. | No |
| SCN | Neutropenia, frequently there are myeloid maturation arrest, MDS, and AML. | Usually, none in patients with ELANE variants. There may be extrahematopoietic abnormalities in non-ELANE–bearing patients. | Hematological (MDS and AML). |
| CAMT and other syndromic thrombocytopenias | Thrombocytopenia, BMF, MDS, and AML. | In typical CAMT, there are usually no other physical abnormalities. Patients with TAR have an absence of radius and sometimes other abnormalities. Those with a fusion of radius and ulna can also have skin, skeletal, and other extrahematopoietic defects. | Patients with classic CAMT can develop leukemia. Those with TAR usually have no cancer risk. Patients with radioulnar fusion due to MECOM variants can develop MDS and AML. |