DICER1致病性种系变异队列中的鼻软骨间充质错构瘤。

Rhinology online Pub Date : 2020-01-01 Epub Date: 2020-04-13 DOI:10.4193/rhinol/20.007
Lauren M Vasta, Alison Nichols, Laura A Harney, Ana F Best, Ann G Carr, Anne K Harris, Markku Miettinen, Kris Ann P Schultz, Hung Jeffrey Kim, Douglas R Stewart
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引用次数: 4

摘要

背景:鼻腔软骨间充质错构瘤是一种与DICER1致病种系变异相关的良性、罕见的鼻腔肿瘤。如果不完全切除,它们可能是局部破坏性的和复发性的。方法:在这项单中心病例对照研究中,收集了美国国家癌症研究所DICER1自然历史研究中DICER1携带者和对照组的耳鼻喉科评估和系统问卷审查。对这些医疗记录进行回顾分析,以确定dicer1携带者与对照组相比是否有不同的鼻窦临床表现。此外,将NCI DICER1研究中鼻软骨间充质错构瘤的诊断病例数与该研究中DICER1携带者的总人观察年进行比较,以确定每个人观察年的总病例数。最后,对NCI DICER1研究和国际胸膜肺母细胞瘤/DICER1登记处未发表的鼻软骨间充质错构瘤病例进行了查询。结果:在耳鼻喉科就诊的dicer1携带者与对照组患者在鼻窦症状方面无临床差异。我们在总共555人-年的dicer1携带者监测中观察到2例鼻软骨间充质错构瘤。我们包括六个未发表的鼻软骨间充质错构瘤病例。综合文献回顾,38%的鼻软骨间充质错构瘤病例至少有一个dicer1相关肿瘤,24%的NCMH发生在鼻窦筛窦,这是最常累及的鼻窦。结论:我们量化了236例dicer1携带者发生鼻软骨间充质错构瘤的风险,报告了6例未发表的病例,并提供了最新的文献综述。
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Nasal chondromesenchymal hamartomas in a cohort with pathogenic germline variation in DICER1.

Background: Nasal chondromesenchymal hamartomas are benign, rare nasal tumors associated with DICER1 pathogenic germline variation. They can be locally destructive and recurrent if not completely resected.

Methodology: In this single-center, case-control study, otorhinolaryngology evaluations and review of systems questionnaires of DICER1-carriers and controls enrolled in the DICER1 Natural History Study at the National Cancer Institute were collected. Review of these medical records were analyzed to determine if DICER1-carriers experienced different sinonasal clinical manifestations compared to controls. Additionally, the number of diagnoses of nasal chondromesenchymal hamartoma cases in the NCI DICER1 study was compared against the total person years of observation of DICER1-carriers in the study to determine the total number of cases per person-years of observation. Lastly, both the NCI DICER1 study and the International Pleuropulmonary Blastoma/DICER1 Registry were queried for unpublished cases of nasal chondromesenchymal hamartomas.

Results: There were no clinical differences in sinonasal symptomatology between DICER1-carriers and control patients seen in the ENT clinic. We observed of two cases of nasal chondromesenchymal hamartoma in a total of 555 person-years of monitoring DICER1-carriers. We include six unpublished nasal chondromesenchymal hamartoma cases. When combined with a comprehensive literature review, 38% of nasal chondromesenchymal hamartoma cases had at least one additional DICER1-associated tumor and 24% of the NCMH were found in the ethmoid sinus, the most commonly involved paranasal sinus.

Conclusions: We quantify the risk of developing nasal chondromesenchymal hamartomas in our cohort of 236 DICER1-carriers, report six unpublished cases, and provide an updated review of the literature.

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