DICER1 mutation and tumors associated with a familial tumor predisposition syndrome: practical considerations.
The familial tumor predisposition syndrome known as DICER1-pleuropulmonary blastoma (PPB) or DICER1 tumor predisposition syndrome was first described in 2009, and it involves an increased risk in the occurrence of various tumors, like cystic nephroma and PPB. Here is presented a girl with a cystic nephroma and two cystic lung lesions who was diagnosed years later with the DICER1 gene mutation. This mutation was also found in one of her parents. Thus, the screening for the DICER1 gene mutation may be important in children with certain/multiple tumors and their families.
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain. edubc15@hotmail.com.
Eduardo J
EJ
Bardón-Cancho
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Ana
A
Haro-Díaz
Chief of Human Genetic Area, Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III, Majadahonda, Madrid, Spain.
Francisco J
FJ
Alonso-García-de la Rosa
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Jorge
J
Huerta-Aragonés
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Marina
M
García-Morín
Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Felipe
F
González-Martínez
Section of Pediatric Hematology and Oncology, Department of Pediatrics, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Carmen
C
Garrido-Colino
D002675:Child, Preschool; D003560:Cysts / Q000175:diagnosis / Q000235:genetics*; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D055088:Early Detection of Cancer / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics*; D009392:Nephrectomy; D010353:Patient Education as Topic; D011013:Pneumonectomy; D018202:Pulmonary Blastoma / Q000175:diagnosis / Q000235:genetics*; D043244:Ribonuclease III / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
Cystic nephroma; DICER1 tumor predisposition syndrome; Familial tumor predisposition syndrome; Pleuropulmonary blastoma