A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation.
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.
Department of Pediatrics and Child Neurology, Oita University Faculty of Medicine, Oita, Japan.
Kazuhito
K
Sekiguchi
Tomoki
T
Maeda
So-ichi
S
Suenobu
Nobutaka
N
Kunisaki
Miki
M
Shimizu
Kyoko
K
Kiyota
Yo-suke
YS
Handa
Kensuke
K
Akiyoshi
Seigo
S
Korematsu
Yoko
Y
Aoki
Yoichi
Y
Matsubara
Tatsuro
T
Izumi
D019943:Amino Acid Substitution; D003062:Codon; D004314:Down Syndrome / Q000150:complications* / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D005183:Failure to Thrive / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D018095:Germ-Line Mutation; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007955:Leukemoid Reaction / Q000150:complications* / Q000175:diagnosis; D008297:Male; D010641:Phenotype; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*
D003062:Codon; D048493:Proto-Oncogene Proteins B-raf
BRAF; RAS/MAPK syndromes; cardio-facio-cutaneous syndrome; juvenile myelomonocytic leukemia; myelodysplastic/myeloproliferative neoplasm