University of New Mexico School of Medicine, Albuquerque, NM, USA.
Department of Neurosurgery, Ochsner Neuroscience Institute, Ochsner Health System, New Orleans, LA, USA.
Childs Nerv Syst. 2021 Jul;37(7):2147-2151. doi: 10.1007/s00381-021-05219-3. Epub 2021 May 20.
Inflammatory myofibroblastic tumor (IMT) is a rare neoplastic tumor type of intermediate biological potential, only recently distinguished from the non-neoplastic category of inflammatory pseudotumor (IP). The literature describes very few cases of IMTs arising in the central nervous system (CNS), and the distinguishing clinical, pathological, and molecular features of IMT-CNS are not well understood. Our purpose is to publish a case of an IMT-CNS with a novel DCTN1-ALK gene fusion, furthering in the literature's characterization of a rare tumor type.
Review of the literature included a PubMed Database search of articles found by the following searches: "Inflammatory myofibroblastic tumor;" "Inflammatory myofibroblastic tumor central nervous system;" "ALK gene fusion;" and "DCTN1-ALK gene fusion." Inclusion of articles discovered by these search terms was determined through critical appraisal of article relevance, number of citations, cross-citation within articles of interest, and rare findings with conflicting conclusions in an effort to reduce publication bias.
We present a case of IMT-CNS with several distinctive molecular features including a DCTN1-ALK gene fusion, the first of its kind described in an intracranial IMT.
IMT is an infrequent tumor type and its presentation within the CNS is exceedingly rare. The paucity of cases, along with the ambiguity of terminology in the literature, has stunted accurate clinical, pathological, and molecular characterization of IMT-CNS. Our case report improves the characterization of the recently appreciated category of IMT-CNS so that connections between phenotype and prognosis, and between genotype and treatment, can eventually be made.
炎性肌纤维母细胞瘤（IMT）是一种罕见的具有中间生物学潜能的肿瘤类型，最近才从非肿瘤性炎性假瘤（IP）类别中区分出来。文献中描述了极少数发生在中枢神经系统（CNS）的 IMT 病例，并且 IMT-CNS 的鉴别临床、病理和分子特征尚未得到很好的理解。我们的目的是发表一例 CNS IMT，其具有 novel DCTN1-ALK 基因融合，进一步阐明了这种罕见肿瘤类型的特征。
文献复习包括对以下搜索项在 PubMed 数据库中进行文章搜索：“炎性肌纤维母细胞瘤”；“中枢神经系统炎性肌纤维母细胞瘤”；“ALK 基因融合”；和“DCTN1-ALK 基因融合”。通过对文章相关性、引用次数、感兴趣文章之间的交叉引用以及具有冲突结论的罕见发现的批判性评估，确定所发现文章的纳入，以减少发表偏倚。
我们提出了一例 CNS IMT 病例，具有几个独特的分子特征，包括 DCTN1-ALK 基因融合，这是首例在颅内 IMT 中描述的融合。
IMT 是一种罕见的肿瘤类型，其在 CNS 中的表现极为罕见。由于病例稀少，以及文献中术语的模糊性，阻碍了对 IMT-CNS 的准确临床、病理和分子特征的描述。我们的病例报告改善了最近被认识到的 IMT-CNS 类别的特征描述，以便最终能够建立表型与预后之间的联系，以及基因型与治疗之间的联系。
