PTEN Hamartoma Tumor Syndrome and Immune Dysregulation

被引：36

作者：

Eissing, Marc ^{[1
,2
]}

Ripken, Lise ^{[1
]}

Schreibelt, Gerty ^{[2
,3
]}

Westdorp, Harm ^{[2
,3
]}

Ligtenberg, Marjohjn ^{[2
,4
]}

Netea-Maier, Romana ^{[5
,6
,7
]}

Netea, Mihai G. ^{[5
,6
,7
]}

de Vries, I. Jolanda M. ^{[2
,3
,8
]}

Hoogerbrugge, Nicoline ^{[1
,2
]}

机构：

[1] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands

[2] Radboud Inst Mol Life Sci, Geert Grootepl Zuid 28, NL-6525 GA Nijmegen, Netherlands

[3] Radboud Univ Nijmegen, Med Ctr, Dept Tumor Immunol, Geert Grootepl Zuid 28, NL-6525 GA Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Geert Grootepl Zuid 10, NL-6525 GA Nijmegen, Netherlands

[5] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Div Endocrinol, Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands

[6] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands

[7] Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Infect Dis, Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands

[8] Radboud Univ Nijmegen, Med Ctr, Dept Med Oncol, Geert Grootepl Zuid 8, NL-6525 GA Nijmegen, Netherlands

来源：

TRANSLATIONAL ONCOLOGY | 2019年 / 12卷 / 02期

关键词：

RILEY-RUVALCABA-SYNDROME; B-CELL HOMEOSTASIS; SUPPRESSOR-CELLS; HUMAN IMMUNODEFICIENCY; LYMPHOID HYPERPLASIA; DENDRITIC CELLS; COWDEN-SYNDROME; TENSIN HOMOLOG; CRITICAL ROLES; CANCER;

D O I：

10.1016/j.tranon.2018.11.003

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Carriers of a pathogenic germline mutations in the PTEN gene, a well-known tumor suppressor gene, are at increased risk of multiple benign and malignant tumors, e.g. breast, thyroid, endometrial and colon cancer. This is called PTEN Hamartomous Tumor Syndrome (PHTS). PHTS patients may also have an increased risk of immunological dysregulation, such as autoimmunity and immune deficiencies. The effects of PTEN on the immune system have been studied in murine knockout models demonstrating that loss of PTEN function leads to dysregulation of the immune response. This results in susceptibility to autoimmunity, impaired B cell class switching with subsequent hypogammaglobulinemia. Additionally, a decreased ability of dendritic cells to prime CD8(+) T cells was observed, leading to impaired tumor eradication. Immune dysfunction in PHTS patients has not yet been extensively studied but might be a manageable contributing factor to the increased cancer risk in PHTS.

引用

页码：361 / 367

页数：7

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