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

Kazuhito Sekiguchi, Tomoki Maeda, So Ichi Suenobu, Nobutaka Kunisaki, Miki Shimizu, Kyoko Kiyota, Yo Suke Handa, Kensuke Akiyoshi, Seigo Korematsu, Yoko Aoki, Yoichi Matsubara, Tatsuro Izumi

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)2600-2603
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume161
Issue number10
DOIs
Publication statusPublished - 2013 Oct

Keywords

  • BRAF
  • Cardio-facio-cutaneous syndrome
  • Juvenile myelomonocytic leukemia
  • Myelodysplastic/myeloproliferative neoplasm
  • RAS/MAPK syndromes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation'. Together they form a unique fingerprint.

Cite this