Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome

作者：Cianci Paola; Fazio Grazia; Casagranda Sara; Spinelli Marco; Rizzari Carmelo; Cazzaniga Gianni; Selicorni Angelo^*

来源：American Journal of Medical Genetics, Part A, 2017, 173(2): 546-549.

DOI：10.1002/ajmg.a.38057

• Baraitser-Winter malformation syndrome
• Fryns-Aftimos syndrome
• craniofrontofacial syndromes
• ACTB gene
• ACTG1 gene
• acute myeloid leukemia

Baraitser-Winter malformation syndrome (BWMS), Fryns-Aftimos syndrome (FA), and craniofrontofacial syndromes (CFFs) have all been recently proposed to be part of the same phenotypic spectrum of Baraitser-Winter cerebrofrontofacial syndrome (BWCFF), which is characterized by facial dysmorphism, ocular coloboma, brain malformations, and intellectual disabilities. In addition to that, the recent discovery of missense mutations in one of the two ubiquitously expressed cytoplasmic - and -acting-encoding genes ACTB (7p22.1) and ACTG1 (17q25.3) in patients carrying a clinical diagnosis of BWSM, FA, or CCF has provided further evidence that these clinical conditions do indeed belong to the same entity at the molecular level. Two cases of BWCFF patients presenting with malignancies (i.e., acute lymphocytic leukemia and cutaneous lymphoma) have been published thus far. Here, we report a 21-year-old female with molecularly confirmed FA, who developed acute myeloid leukemia (AML). The present finding may indicate that actinopathies could be cancer-predisposing syndromes although small numbers and publication bias should be taken into account.

• 出版日期2017-2