Somatic mutation landscape of a meningioma and its pulmonary metastasis.
Somatic mutation landscape of a meningioma and its pulmonary metastasis.
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脑膜瘤及其肺转移的体细胞突变情况
DOI：
10.1186/s40880-018-0291-2
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发表时间：
2018-05-04
期刊：
影响因子：
--
通讯作者：
Chen J
中科院分区：
文献类型：
--
作者：
Du Y;Lu T;Huang S;Ren F;Cui G;Chen J
脑膜瘤颅外转移（ENM）是非常罕见的，通常发生在原发肿瘤被诊断后数年。病例介绍一位58岁男性患者因突然跌倒被送往我院急诊室。磁共振成像检测到一个肿块在右额矢状窦。他接受了肿瘤切除术，恢复良好，但术后计算机断层扫描显示他的右侧胸部有三个肿块。进行了胸部手术以切除其中两个肿块。病理结果显示脑和肺肿瘤均为I级脑膜瘤。患者术后未接受额外的放疗或化疗，术后1年无脑肿瘤复发或胸部剩余肿块进展的迹象。我们对患者的血液、原发性脑肿瘤和肺转移性肿瘤组织进行了全外显子组测序，以确定ENM期间发生的体细胞遗传学改变。这揭示了神经纤维蛋白2基因的移码缺失可能导致脑膜瘤的形成。令人惊讶的是，我们发现脑肿瘤是相对同质的，只包含一个优势克隆;肺转移瘤和原发脑肿瘤均来源于同一克隆，在转移瘤中未检测到明显的额外驱动突变。结论虽然脑膜瘤的ENM非常罕见，脑肿瘤细胞似乎比通常认为的更能适应中枢神经系统以外的组织微环境。
BackgroundExtracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated.Case presentationA 58-year-old male patient was sent to the emergency room of our hospital because of a sudden fall. Magnetic resonance imaging detected a mass at the right frontal sagittal sinus. He underwent tumor resection and recovered well, but post-operative computed tomography revealed three lumps on the right side of his chest. Thoracic surgery was performed to remove two of the lumps. Pathological findings revealed that the brain and lung tumors were grade I meningiomas. The patient received no additional radiation or chemotherapy post-surgery, and there was no sign of tumor recurrence in the brain or progression of the remaining lump in the chest 1 year after surgery. We performed whole exome sequencing of the patient’s blood, primary brain tumor, and lung metastatic tumor tissues to identify somatic genetic alterations that had occurred during ENM. This revealed that a frameshift deletion of the neurofibromin 2 gene likely drove formation of the meningioma. Surprisingly, we found that the brain tumor was relatively homogeneous and contained only one dominant clone; both the pulmonary metastasis and the original brain tumor were derived from the same clone, and no obvious additional driver mutations were detected in the metastatic tumor.ConclusionAlthough ENM of meningiomas is very rare, brain tumor cells appear to be more adaptable to tissue microenvironments outside of the central nervous system than was commonly thought.
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影响因子：
12.3
作者：
Brannon AR;Vakiani E;Sylvester BE;Scott SN;McDermott G;Shah RH;Kania K;Viale A;Oschwald DM;Vacic V;Emde AK;Cercek A;Yaeger R;Kemeny NE;Saltz LB;Shia J;D'Angelica MI;Weiser MR;Solit DB;Berger MF
通讯作者：
Berger MF
影响因子：
15.9
作者：
Ostrom, Quinn T.;Gittleman, Haley;Barnholtz-Sloan, Jill S.
通讯作者：
Barnholtz-Sloan, Jill S.
影响因子：
48
作者：
Gonzalez-Perez A;Perez-Llamas C;Deu-Pons J;Tamborero D;Schroeder MP;Jene-Sanz A;Santos A;Lopez-Bigas N
通讯作者：
Lopez-Bigas N
影响因子：
64.8
作者：
DuPage, Michel;Mazumdar, Claire;Schmidt, Leah M.;Cheung, Ann F.;Jacks, Tyler
通讯作者：
Jacks, Tyler
影响因子：
5.8
作者：
Saunders, Christopher T.;Wong, Wendy S. W.;Cheetham, R. Keira
通讯作者：
Cheetham, R. Keira