The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature

被引:3
|
作者
Kose, Dogan [1 ]
Guzelcicek, Ahmet [2 ]
Oz, Ozlem [3 ]
Erdem, Arzu Y. [4 ]
Haliloglu, Yesim [5 ]
Witzel, Maximilian [7 ]
Klein, Christoph [7 ]
Unal, Ekrem [6 ]
机构
[1] Harran Univ, Fac Med, Dept Pediat Hematol & Oncol, Block B,1st Floor, TR-42070 Haliliye, Sanliurfa, Turkey
[2] Harran Univ, Fac Med, Dept Pediat, Sanliurfa, Turkey
[3] Harran Univ, Fac Med, Dept Genet, Sanliurfa, Turkey
[4] Ankara City Hosp, Dept Pediat Hematol & Oncol, Ankara, Turkey
[5] Erciyes Univ, Dept Med Biol, Sch Med, Kayseri, Turkey
[6] Erciyes Univ, Dept Pediat Hematol & Oncol, Fac Med, Kayseri, Turkey
[7] Munich Univ, Dept Pediat, Dr von Hauner Childrens Hosp, Munich, Germany
关键词
familial; Hodgkin lymphoma; CD27; mutation; COMBINED IMMUNODEFICIENCY; T-CELLS; RISK; HISTORY; CANCER; SUSCEPTIBILITY; ASSOCIATION; LEUKEMIA;
D O I
10.1097/MPH.0000000000002453
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
This study aimed to report 4 siblings with CD27 deficiency presented with Hodgkin lymphoma. The father of the family, his 2 wives, and 17 children born from these wives were included into the study. CD27 mutation of all the family members with, and without Hodgkin lymphoma were studied. The variants detected by the exome sequencing analysis were verified by Sanger sequencing and analyzed using SeqScape Software 3. It was determined that both the father of the family and his 2 wives carried the same variant heterozygously. Of the children born to the first mother, 2 children were normal, 3 were heterozygous and 5 were homozygous. Four of these 5 homozygous children were diagnosed with Hodgkin lymphoma. Of the children born to the second mother, 1 child was normal, 3 children were heterozygous and 2 children were homozygous, and none of them had developed a malignant event. We also showed that CD27 deficiency may enhance Treg differentiation. According to our information, this study augmented the relationship of Hodgkin lymphoma and CD27 deficiency. The detection of homozygous CD27 variant in all siblings who developed lymphoma strengthened the place of this mutation in the etiology of Hodgkin lymphoma. In contrast, the presence of homozygous siblings with no malignant event suggested the possible contributions of environmental factors on the etiology.
引用
收藏
页码:E833 / E843
页数:11
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