Leukemia in Cardio-facio-cutaneous (CFC) Syndrome: A Patient With a Germline Mutation in BRAF Proto-oncogene
| Autor: | Yoichi Matsubara, Makoto Yoshida, Kenji Fujieda, Yoko Aoki, Yoko Narumi, Yoshio Makita, Tetsuya Niihori, Shigeo Kure |
|---|---|
| Rok vydání: | 2007 |
| Předmět: |
Heart Defects
Congenital Male Proto-Oncogene Proteins B-raf endocrine system diseases medicine.disease_cause Proto-Oncogene Mas Germline Craniofacial Abnormalities Germline mutation Costello syndrome Intellectual Disability medicine Humans Abnormalities Multiple HRAS Child neoplasms Germ-Line Mutation business.industry Sequence Analysis DNA Syndrome Hematology Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease digestive system diseases PTPN11 Leukemia Oncology Face Cytogenetic Analysis Pediatrics Perinatology and Child Health Skin Abnormalities Cancer research Noonan syndrome KRAS business |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 29:287-290 |
| ISSN: | 1077-4114 |
| Popis: | This is a non-final version of an article published in final form in Makita, Yoshio ; Narumi, Yoko ; Yoshida, Makoto ; Niihori, Tetsuya ; Kure, Shigeo ; Fujieda, Kenji ; Matsubara, Yoichi ; Aoki, Yoko, Leukemia in cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene, Journal of Pediatric Hematology/Oncology 29(5), MAY 2007, pp. 287-290 author Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by a distinctive facial appearance, ectodermal abnormalities, and heart defects. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in 2 genes that encode molecules of the RAS/MAPK (mitogen activated protein kinase) pathway (PTPN11 and HRAS, respectively). Recently, mutations in KRAS, BRAF, and MEK1/2 have been identified in patients with CFC syndrome. Somatic mutations in KRAS and BRAF have been identified in various tumors. In contrast, the association with malignancy has not been noticed in CFC syndrome. Here we report a 9-year-old boy diagnosed with CFC syndrome and acute lymphoblastic leukemia. Sequencing analysis of the entire coding region of KRAS and BRAF showed a de novo germline BRAF E501G (1502A→G) mutation. Molecular diagnosis and careful observations should be considered in children with CFC syndrome because they have germline mutations in proto-oncogenes and might develop malignancy. |
| Databáze: | OpenAIRE |
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