Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors
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چکیده
منابع مشابه
A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion
Solitary fibrous tumor (SFT) is a rare neoplasm composed of mesenchymal-derived spindle cells. Although SFT occurs anywhere in the body, they most frequently affects the thoracic region. Here, we reported an extremely rare case of an extrathoracic SFT occurring primarily in the kidney. To our knowledge, little information has been described on the immunohistochemistry (IHC) and genetics of rena...
متن کاملThe clinicopathological significance of NAB2‐STAT6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors
NAB2-STAT6 gene fusion drives STAT6 nuclear expression and is the pathognomonic hallmark of solitary fibrous tumors (SFTs). However, no study has systematically analyzed the clinicopathological features, STAT6 immunoexpression status, or the fusion variants of NAB2-STAT6 in intrathoracic SFTs. Fifty-two intrathoracic SFTs were retrieved to appraise histopathology, assess STAT6 immunoexpression,...
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BACKGROUND Molecular profiling has uncovered genetic subtypes of glioblastoma (GBM), including tumors with IDH1 mutations that confer increase survival and improved response to standard-of-care therapies. By mapping the genetic landscape of brain tumors in routine clinical practice, we enable rapid identification of targetable genetic alterations. CASE PRESENTATION A 29-year-old male present...
متن کاملImportance of NAB2-STAT6 Fusion in the Diagnosis of Pancreatic Solitary Fibrous Tumor with Hamartoma-Like Features: A Case Report and Review of the Literature
We report a case of pancreatic hamartoma-like solitary fibrous tumor which was differentiated from pancreatic hamartoma with the detection of NAB2-STAT6 fusion, a specific mutation for solitary fibrous tumors. A pancreatic well-demarcated solid nodule, 21 × 17 mm, of 82-year-old man was surgically enucleated. Microscopic findings were close to a pancreatic hamartoma that consisted of sparsely d...
متن کاملWhole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
Background: Hemophagocytic lymphohistiocytosis (HLH) is an immune system disorder characterized by uncontrolled hyper-inflammation owing to hypercytokinemia from the activated but ineffective cytotoxic cells. Establishing a correct diagnosis for HLH patients due to the similarity of this disease with other conditions like malignant lymphoma and leukemia and similarity among its two forms is dif...
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ژورنال
عنوان ژورنال: Nature Genetics
سال: 2013
ISSN: 1061-4036,1546-1718
DOI: 10.1038/ng.2522