TY - JOUR
T1 - A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation
AU - Sekiguchi, Kazuhito
AU - Maeda, Tomoki
AU - Suenobu, So Ichi
AU - Kunisaki, Nobutaka
AU - Shimizu, Miki
AU - Kiyota, Kyoko
AU - Handa, Yo Suke
AU - Akiyoshi, Kensuke
AU - Korematsu, Seigo
AU - Aoki, Yoko
AU - Matsubara, Yoichi
AU - Izumi, Tatsuro
PY - 2013/10
Y1 - 2013/10
N2 - 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.
AB - 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.
KW - BRAF
KW - Cardio-facio-cutaneous syndrome
KW - Juvenile myelomonocytic leukemia
KW - Myelodysplastic/myeloproliferative neoplasm
KW - RAS/MAPK syndromes
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U2 - 10.1002/ajmg.a.36107
DO - 10.1002/ajmg.a.36107
M3 - Article
C2 - 23950000
AN - SCOPUS:84884973607
SN - 1552-4825
VL - 161
SP - 2600
EP - 2603
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 10
ER -