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首页> 外文期刊>American journal of medical genetics, Part A >KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?
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KBG syndrome patient due to 16q24.3 microdeletion presenting with a paratesticular rhabdoid tumor: Coincidence or cancer predisposition?

机译：KBG综合征患者由于16 Q24.3微缺失呈现Parateymar rhabdoid肿瘤：巧合或癌症易感性？

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摘要

KBG syndrome is a rare autosomal dominant disorder caused by constitutive haploinsufficiency of the ankyrin repeat domain-containing protein 11 (ANKRD11) being the result of either loss-offunction gene variants or 16q24.3 microdeletions. The syndrome is characterized by a variable clinical phenotype comprising a distinct facial gestalt and variable neurological involvement. ANKRD11 is frequently affected by loss of heterozygosity in cancer. It influences the ligand-dependent transcriptional activation of nuclear receptors and tumor suppressive function of tumor protein TP53. ANKRD11 thus serves as a candidate tumor suppressor gene and it has been speculated that its haploinsufficiency may lead to an increased cancer risk in KBG syndrome patients. While no systematic data are available, we report here on the second KBG syndrome patient who developed a malignancy. At 17 years of age, the patient was diagnosed with a left-sided paratesticular extrarenal malignant rhabdoid tumor. Genetic investigations identified a somatic truncating gene variant in SMARCB1, which was not present in the germline, and a constitutional de novo 16q24.3 microdeletion leading to a loss of the entire ANKRD11 locus. Thus, KBG syndrome was diagnosed, which was in line with the clinical phenotype of the patient. At present, no specific measures for cancer surveillance can be recommended for KBG syndrome patients. However, a systematic follow-up and inclusion of KBG syndrome patients in registries (e.g., those currently established for cancer prone syndromes) will provide empiric data to support or deny an increased cancer risk in KBG syndrome in the future.
机译：KBG综合征是由含有Ankyrin重复域的蛋白质11（ANKRD11）的组成型单倍细核心引起的稀有常染色体显性障碍是丧失丧失损失基因变体或16Q24.3微缺失的结果。该综合征的特征在于可变的临床表型，包括不同的面部甲甲甲菊酯和可变神经学中的临床表型。 ANKRD11经常受癌症中杂合子丧失的影响。它影响肿瘤蛋白TP53的核受体的配体依赖性转录激活和肿瘤抑制功能。因此，ANKRD11用作候选肿瘤抑制基因，并且已经推测其臭氧水能可能导致KBG综合征患者的癌症风险增加。虽然没有可用的系统数据，我们在此报告于开发恶性肿瘤的第二个KBG综合征患者。在17岁时，患者被诊断出左侧腭裂外尿症恶性rhabdoid肿瘤。遗传调查鉴定了SMARCB1中的体细胞截断基因变体，其在种系中并不存在于Novo 16Q24.3微缺失，导致整个ANKRD11基因座的损失。因此，诊断出KBG综合征，其符合患者的临床表型。目前，KBG综合征患者无法建议对癌症监测进行具体措施。然而，KBG综合征患者在注册表中进行了系统的后续行动和包含（例如，目前为癌症综合征建立的人）将提供经验数据，以支持或否认未来KBG综合征中的癌症风险增加。

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