Oesophageal squamous cell carcinoma in a young adult with IL-12Rβ1 deficiency

被引：24

作者：

Cardenes, Maria ^{[1
,2
]}

Angel-Moreno, Alfonso ^{[3
]}

Fieschi, Claire ^{[4
]}

Sologuren, Ithaisa ^{[1
]}

Colino, Elena ^{[5
]}

Molines, Antonio ^{[6
]}

Garcia-Laorden, M. Isabel ^{[1
]}

Campos-Herrero, M. Isolina ^{[7
]}

Andujar-Sanchez, Miguel ^{[8
]}

Casanova, Jean-Laurent ^{[4
,9
,10
]}

Rodriguez-Gallego, Carlos ^{[1
,2
]}

机构：

[1] Gran Canaria Dr Negrin Univ Hosp, Dept Immunol, Las Palmas Gran Canaria, Spain

[2] Canarian Inst Canc Res ISCiii RTICCC CO3 10, San Cristobal la Laguna, Santa Cruz Tene, Spain

[3] Complejo Hosp Univ Insular Materno Infantil, Dept Internal Med, Las Palmas Gran Canaria, Spain

[4] Univ Paris 05, Lab Human Genet Infect Dis, Necker Branch, INSERM,Necker Med Sch,U980, Paris, France

[5] Complejo Hosp Univ Insular Materno Infantil, Dept Pediat, Las Palmas Gran Canaria, Spain

[6] Complejo Hosp Univ Insular Materno Infantil, Dept Haematol, Las Palmas Gran Canaria, Spain

[7] Gran Canaria Dr Negrin Univ Hosp, Dept Microbiol, Las Palmas Gran Canaria, Spain

[8] Complejo Hosp Univ Insular Materno Infantil, Dept Pathol, Las Palmas Gran Canaria, Spain

[9] Rockefeller Univ, Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY 10021 USA

[10] Hop Necker Enfants Malad, Paediat Immunol Haematol Unit, Paris, France

来源：

JOURNAL OF MEDICAL GENETICS | 2010年 / 47卷 / 09期

关键词：

IMMUNITY; CANCER;

D O I：

10.1136/jmg.2009.071910

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 frecuently relates to alcohol intake and smoking. Disorders of the IL-12-IL-23/IFN-gamma axis may predispose to cancer.

引用

页码：635 / 637

页数：3

共 10 条

[1]

[Anonymous], SEER Cancer statistics review, 1997-2003 Available

[2] Candida colonization in patients with esophageal disease:: a prospective clinical study [J].

Bonavina, L ;

Incarbone, R ;

Reitano, M ;

Tortorano, A ;

Viviani, M ;

Peracchia, A .

DISEASES OF THE ESOPHAGUS, 2003, 16 (02) :70-72

[3] HHV-8-associated Kaposi sarcoma in a child with IFNγR1 deficiency [J].

Camcioglu, Y ;

Picard, C ;

Lacoste, V ;

Dupuis, S ;

Akçakaya, N ;

Çokura, H ;

Kaner, G ;

Demirkesen, C ;

Plancoulaine, S ;

Emile, JF ;

Gessain, A ;

Casanova, JL .

JOURNAL OF PEDIATRICS, 2004, 144 (04) :519-523

[4] Interferons, immunity and cancer immunoediting [J].

Dunn, Gavin P. ;

Koebel, Catherine M. ;

Schreiber, Robert D. .

NATURE REVIEWS IMMUNOLOGY, 2006, 6 (11) :836-848

[5] Medical progress - Esophageal cancer [J].

Enzinger, PC ;

Mayer, RJ .

NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (23) :2241-2252

[6] Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor β1 deficiency:: Medical and immunological implications [J].

Fieschi, C ;

Dupuis, S ;

Catherinot, E ;

Feinberg, J ;

Bustamante, J ;

Breiman, A ;

Altare, F ;

Baretto, R ;

Le Deist, F ;

Kayal, S ;

Koch, H ;

Richter, D ;

Brezina, M ;

Aksu, G ;

Wood, P ;

Al-Jumaah, S ;

Raspall, M ;

Duarte, AJD ;

Tuerlinckx, D ;

Virelizier, JL ;

Fischer, A ;

Enright, A ;

Bernhöft, J ;

Cleary, AM ;

Vermylen, C ;

Rodriguez-Gallego, C ;

Davies, G ;

Blütters-Sawatzki, R ;

Siegrist, CA ;

Ehlayel, MS ;

Novelli, V ;

Haas, WH ;

Levy, J ;

Freihorst, J ;

Al-Hajar, S ;

Nadal, D ;

Vasconcelos, DD ;

Jeppsson, O ;

Kutukculer, N ;

Frecerova, K ;

Caragol, I ;

Lammas, D ;

Kumararatne, DS ;

Abel, L ;

Casanova, JL .

JOURNAL OF EXPERIMENTAL MEDICINE, 2003, 197 (04) :527-535

[7] Inborn errors of IL-12/23- and IFN-γ-mediated immunity:: molecular, cellular, and clinical features [J].

Filipe-Santos, Orchidee ;

Bustamante, Jacinta ;

Chapgier, Ariane ;

Vogt, Guillaume ;

de Beaucoudrey, Ludovic ;

Feinberg, Jacqueline ;

Jouanguy, Emmanuelle ;

Boisson-Dupuis, Stephanie ;

Fieschi, Claire ;

Picard, Capucine ;

Casanova, Jean-Laurent .

SEMINARS IN IMMUNOLOGY, 2006, 18 (06) :347-361

[8] Variable presentation of disseminated nontuberculous mycobacterial infections in a family with an interferon-γ receptor mutation [J].

Han, JY ;

Rosenzweig, SD ;

Church, JA ;

Holland, SM ;

Ross, LA .

CLINICAL INFECTIOUS DISEASES, 2004, 39 (06) :868-870

[9] Interleukin-12-deficient mice are at greater risk of UV radiation-induced skin tumors and malignant transformation of papillomas to carcinomas [J].

Meeran, SM ;

Mantena, SK ;

Meleth, S ;

Elmets, CA ;

Katiyar, SK .

MOLECULAR CANCER THERAPEUTICS, 2006, 5 (04) :825-832

[10] Oral and oesophageal squamous cell carcinoma - A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I) [J].

Rautemaa, Riina ;

Hietanen, Jarkko ;

Niissalo, Sirkku ;

Pirinen, Sinikka ;

Perheentupa, Jaakko .

ORAL ONCOLOGY, 2007, 43 (06) :607-613

← 1 →