Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.,Brain Pathology

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Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.
Brain Pathology ( IF 5.8 ) Pub Date : 2019-11-06 , DOI: 10.1111/bpa.12797
Calixto-Hope G Lucas ₁ , Javier E Villanueva-Meyer ₂ , Nicholas Whipple ₃ , Nancy Ann Oberheim Bush _{4,

5} , Tabitha Cooney ₆ , Susan Chang _{4,

5} , Michael McDermott ₇ , Mitchel Berger ₇ , Elaine Cham ₈ , Peter P Sun ₉ , Angelica Putnam ₁₀ , Hong Zhou ₁₀ , Robert Bollo ₁₁ , Samuel Cheshier ₁₁ , Matthew M Poppe ₁₂ , Kar-Ming Fung ₁₃ , Sarah Sung ₁₄ , Chad Glenn ₁₅ , Xuemo Fan ₁₆ , Serguei Bannykh ₁₆ , Jethro Hu ₁₇ , Moise Danielpour ₁₈ , Rong Li ₁₉ , Elizabeth Alva ₂₀ , James Johnston ₂₁ , Jessica Van Ziffle _{1,

22} , Courtney Onodera _{1,

22} , Patrick Devine _{1,

22} , James P Grenert _{1,

22} , Julieann C Lee ₁ , Melike Pekmezci ₁ , Tarik Tihan ₁ , Andrew W Bollen ₁ , Arie Perry _{1,

7} , David A Solomon _{1,

22}

Affiliation

Department of Pathology, University of California, San Francisco, CA.
Department of Radiology and Biomedical Imaging, University of California, San Francisco, CA.
Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Utah, Salt Lake City, UT.
Division of Neuro-Oncology, Department of Neurological Surgery, University of California, San Francisco, CA.
Department of Neurology, University of California, San Francisco, CA.
Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of California, San Francisco, CA.
Department of Neurological Surgery, University of California, San Francisco, CA.
Department of Pathology, UCSF Benioff Children's Hospital Oakland, Oakland, CA.
Department of Neurosurgery, UCSF Benioff Children's Hospital Oakland, Oakland, CA.
Department of Pathology, University of Utah, Salt Lake City, UT.
Division of Pediatric Neurosurgery, Department of Neurosurgery, University of Utah, Salt Lake City, UT.
Department of Radiation Oncology, Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
Department of Pathology, University of Oklahoma, Oklahoma City, OK.
Department of Neurology, Stephenson Cancer Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
Department of Neurosurgery, Stephenson Cancer Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK.
Department of Pathology, Cedars Sinai Medical Center, Los Angeles, CA.
Department of Neurology, Cedars Sinai Medical Center, Los Angeles, CA.
Department of Neurosurgery, Cedars Sinai Medical Center, Los Angeles, CA.
Department of Pathology, Children's Hospital of Alabama, Birmingham, AL.
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Children's Hospital of Alabama, Birmingham, AL.
Department of Neurosurgery, Children's Hospital of Alabama, Birmingham, AL.
Clinical Cancer Genomics Laboratory, University of California, San Francisco, CA.

"Myxoid glioneuronal tumor, PDGFRA p.K385-mutant" is a recently described tumor entity of the central nervous system with a predilection for origin in the septum pellucidum and a defining dinucleotide mutation at codon 385 of the PDGFRA oncogene replacing lysine with either leucine or isoleucine (p.K385L/I). Clinical outcomes and optimal treatment for this new tumor entity have yet to be defined. Here, we report a comprehensive clinical, radiologic, and histopathologic assessment of eight cases. In addition to its stereotypic location in the septum pellucidum, we identify that this tumor can also occur in the corpus callosum and periventricular white matter of the lateral ventricle. Tumors centered in the septum pellucidum uniformly were associated with obstructive hydrocephalus, whereas tumors centered in the corpus callosum and periventricular white matter did not demonstrate hydrocephalus. While multiple patients were found to have ventricular dissemination or local recurrence/progression, all patients in this series remain alive at last clinical follow-up despite only biopsy or subtotal resection without adjuvant therapy in most cases. Our study further supports "myxoid glioneuronal tumor, PDGFRA p.K385-mutant" as a distinct CNS tumor entity and expands the spectrum of clinicopathologic and radiologic features of this neoplasm.

中文翻译：

胶质神经胶质神经胶质瘤，PDGFRA p.K385-突变体：临床，影像学和组织病理学特征。

“类胶质神经胶质神经瘤肿瘤，PDGFRA p.K385-突变体”是中枢神经系统的最近描述的肿瘤实体，偏向于中隔透明膜，并且PDGFRA癌基因的密码子385的确定性二核苷酸突变用赖氨酸或赖氨酸替代了赖氨酸。异亮氨酸（p.K385L / I）。这种新的肿瘤实体的临床结果和最佳治疗方法尚未确定。在这里，我们报告了八例的综合临床，影像学和组织病理学评估。除了其在透明隔中的定型位置外，我们确定该肿瘤也可能发生在call体和侧脑室的室周白质中。肿瘤均匀分布在透明隔中，与阻塞性脑积水有关，而以call体和脑室周围白质为中心的肿瘤未显示脑积水。尽管发现多名患者出现了室性播散或局部复发/进展，但在大多数临床病例中，尽管仅进行了活检或次全切除术，但没有辅助治疗，该系列的所有患者仍在最后一次临床随访中存活。我们的研究进一步支持“粘液性胶质神经胶质瘤，PDGFRA p.K385-突变体”作为一种独特的中枢神经系统肿瘤实体，并扩大了该肿瘤的临床病理和放射学特征范围。尽管在大多数情况下仅进行活检或次全切除，而没有辅助治疗，但该系列的所有患者在最后一次临床随访中仍然存活。我们的研究进一步支持“粘液性胶质神经胶质瘤，PDGFRA p.K385-突变体”作为一种独特的中枢神经系统肿瘤实体，并扩大了该肿瘤的临床病理和放射学特征范围。尽管在大多数情况下仅进行活检或次全切除，而没有辅助治疗，但该系列的所有患者在最后一次临床随访中仍然存活。我们的研究进一步支持“粘液性神经胶质神经胶质瘤，PDGFRA p.K385-突变体”作为独特的中枢神经系统肿瘤实体，并扩大了该肿瘤的临床病理和放射学特征范围。

更新日期：2019-11-06

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