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Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
BMC Medical Genetics Pub Date : 2020-08-17 , DOI: 10.1186/s12881-020-01103-0
Sarah K Macklin-Mantia 1 , Stephanie L Hines 2 , Kaisorn L Chaichana 3 , Angela M Donaldson 4 , Stephen L Ko 5 , Qihui Zhai 6 , Niloy Jewel Samadder 7 , Douglas L Riegert-Johnson 1, 8
Affiliation  

Pathogenic AXIN2 variants cause absence of permanent teeth (hypodontia), sparse hair and eye brows (ectodermal dysplasia), and gastrointestinal polyps and cancer. Inheritance is autosomal dominant with variable penetrance. Only twenty- five patients have been reported from five families. A Mayo Clinic pilot program tested 3009 newly diagnosed cancer patients for pathogenic germline variants in 83 hereditary cancer genes, including AXIN2. We found only one patient with a pathogenic AXIN2 variant. The proband was a 49 year-old female who came to Otolaryngology clinic complaining of right-sided nasal obstruction. Biopsy of identified nasal polyp revealed olfactory neuroblastoma (esthesioneuroblastoma). Surgical resection with gross, total tumor resection was followed by radiation therapy. The patient enrolled in a clinical pilot of genetic testing and a pathogenic variant in AXIN2, c.1822del (p.Leu608Phefs*81) (NM_004655.3) was found. She was seen in Medical Genetics clinic and found to have a personal history of hypodontia. Her eyebrows, hair, and nails were all normal. She underwent upper endoscopy and colonoscopy. A four mm gastric adenoma was found and removed. This is the first case reported on a patient with a pathogenic, germline AXIN2 variant and an olfactory neuroblastoma or a gastric adenoma. We propose that these could be features of the AXIN2 phenotype. The known association between gastric adenomas and familial adenomatous polyposis, the other Wnt/beta-catenin disorder, supports the hypothesis that pathogenic AXIN2 variants increase risk as well. As the odds of a chance co-occurrence of a pathogenic AXIN2 variant and an olfactory neuroblastoma are so rare, it is worth exploring potential causation. We are building a clinical registry to expand understanding of the AXIN2 phenotype and request any clinicians caring for patients with pathogenic AXIN2 variants to contact us.

中文翻译:

病例报告扩大了生殖系AXIN2相关的表型,以包括嗅觉神经母细胞瘤和胃腺瘤。

致病性AXIN2变体导致缺少恒牙(齿龈欠缺),稀疏的头发和眼眉(外胚层发育不良)以及胃肠息肉和癌症。遗传是常染色体显性遗传,具有可变的外显率。从五个家庭中仅报告了25位患者。Mayo Clinic试点计划测试了3009名新诊断的癌症患者的83个遗传性癌症基因(包括AXIN2)中的致病种系变异。我们发现只有一名患有致病性AXIN2变异的患者。该先证者是一名49岁的女性,她到耳鼻喉科诊所抱怨右侧鼻塞。鼻息肉的活检显示嗅觉神经母细胞瘤(esthesioneuroblastoma)。手术切除并进行大,全肿瘤切除,然后进行放射治疗。该患者参加了基因测试的临床试验,并发现了AXIN2的致病变体c.1822del(p.Leu608Phefs * 81)(NM_004655.3)。她曾在Medical Genetics诊所看过,发现有个人牙髓病史。她的眉毛,头发和指甲都正常。她接受了内镜和结肠镜检查。发现并切除了四毫米胃腺瘤。这是第一例有关致病性生殖系AXIN2变异和嗅觉神经母细胞瘤或胃腺瘤的患者的报道。我们建议这些可能是AXIN2表型的特征。胃腺瘤与家族性腺瘤性息肉病(另一种Wnt /β-catenin疾病)之间的已知关联支持病原性AXIN2变体也增加风险的假说。由于致病性AXIN2变体与嗅觉神经母细胞瘤同时发生的几率很小,因此值得探讨潜在的因果关系。我们正在建立临床注册中心,以扩大对AXIN2表型的了解,并要求任何照顾有致病性AXIN2变体患者的临床医生与我们联系。
更新日期:2020-08-17
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