Oesophageal squamous cell carcinoma in a young adult with IL-12R beta 1 deficiency.
Genetic defects in the IL-12-IL-23/IFN-gamma circuit confer Mendelian susceptibility to mycobacteria and salmonella. The IL-12/IFN-gamma axis is essential for anti-tumoral immunity in mice. Cancer susceptibility has not been recognised in these patients so far. We report three relatives with IL-12R beta 1 deficiency. At the age of 25 years old, one patient presented with oesophageal squamous cell carcinoma (OSCC). The patient had no previous risk factors for OSCC. He died at the age of 29 years. OSCC is exceedingly rare in individuals under 30 years and frequently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-gamma axis may predispose to cancer.
Cárdenes
María
M
Angel-Moreno
Alfonso
A
Fieschi
Claire
C
Sologuren
Ithaisa
I
Colino
Elena
E
Molinés
Antonio
A
García-Laorden
M Isabel
MI
Campos-Herrero
M Isolina
MI
Andújar-Sánchez
Miguel
M
Casanova
Jean-Laurent
JL
Rodríguez-Gallego
Carlos
C
D000293:Adolescent; D000328:Adult; D002294:Carcinoma, Squamous Cell / Q000378:metabolism* / Q000473:pathology; D002648:Child; D004938:Esophageal Neoplasms / Q000378:metabolism* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D053707:Receptors, Interleukin-12 / Q000172:deficiency* / Q000378:metabolism; D055815:Young Adult
C508438:IL12RB1 protein, human; D053707:Receptors, Interleukin-12