A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio‐facio‐cutaneous syndrome and a germline BRAF mutation

Abstract

A male infant, born at 32 weeks gestation by cesarean because of hydrops fetalis, presented with multiple anomalies, such as sparse and curly scalp hair, absent eyebrows, frontal bossing, an atrial septal defect, pulmonary artery stenosis, and whole myocardial thickening. He was clinically diagnosed with cardio-facio-cutaneous (CFC) syndrome, and was confirmed to have a germline V-raf murine sarcoma viral oncogene homologue B1 (BRAF) c.721 A>C mutation. At 1 month of age, he presented with a transient myelodysplastic/myeloproliferative neoplasm (MDS/MPN), which improved within a month without the administration of antineoplastic agents. This is the first report of CFC syndrome with MDS/MPN. The coexistence of MDS/MPN may be related to this BRAF c.721 A>C mutation.

Ontogenic growth as the root of fundamental differences between childhood and adult cancer

“…We are also aware of two other patients with TL without mutations in GATA1 . Although the causative mutation was not identified in one of these patients , the last case was associated with a germ line mutation in BRAF . The importance of context (size) and the hematopoietic stem cell pool as depicted in our model, is also illustrated by the cumulative incidence of acute leukemia in children born with Fanconi anemia (FA), a rare form of inherited marrow failure syndrome.…”