scholarly journals A Novel NFIX-STAT6 Gene Fusion in Solitary Fibrous Tumor: A Case Report

2021 ◽  
Vol 22 (14) ◽  
pp. 7514
Author(s):  
David S. Moura ◽  
Juan Díaz-Martín ◽  
Silvia Bagué ◽  
Ruth Orellana-Fernandez ◽  
Ana Sebio ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Wide Spectrum ◽  
Bioinformatic Analysis ◽  
Fusion Partner ◽  
Rna Seq ◽  
Genomic Location ◽  
Nuclear Factor I ◽  
New Gene ◽  
Fibrous Tumor

Solitary fibrous tumor is a rare subtype of soft-tissue sarcoma with a wide spectrum of histopathological features and clinical behaviors, ranging from mildly to highly aggressive tumors. The defining genetic driver alteration is the gene fusion NAB2–STAT6, resulting from a paracentric inversion within chromosome 12q, and involving several different exons in each gene. STAT6 (signal transducer and activator of transcription 6) nuclear immunostaining and/or the identification of NAB2–STAT6 gene fusion is required for the diagnostic confirmation of solitary fibrous tumor. In the present study, a new gene fusion consisting of Nuclear Factor I X (NFIX), mapping to 19p13.2 and STAT6, mapping to 12q13.3 was identified by targeted RNA-Seq in a 74-year-old female patient diagnosed with a deep-seated solitary fibrous tumor in the pelvis. Histopathologically, the neoplasm did not display nuclear pleomorphism or tumor necrosis and had a low proliferative index. A total of 378 unique reads spanning the NFIXexon8–STAT6exon2 breakpoint with 55 different start sites were detected in the bioinformatic analysis, which represented 59.5% of the reads intersecting the genomic location on either side of the breakpoint. Targeted RNA-Seq results were validated by RT-PCR/ Sanger sequencing. The identification of a new gene fusion partner for STAT6 in solitary fibrous tumor opens intriguing new hypotheses to refine the role of STAT6 in the sarcomatogenesis of this entity.

scholarly journals GENO-28ANALYSIS OF NAB2-STAT6 GENE FUSION IN 17 CASES OF MENINGEAL SOLITARY FIBROUS TUMOR/HEMANGIOEPRICYTOMA

2015 ◽  
Vol 17 (suppl 5) ◽  
pp. v97.4-v98
Author(s):  
Sayaka Yuzawa ◽  
Hiroshi Nishihara ◽  
Lei Wang ◽  
Taichi Kimura ◽  
Masumi Tsuda ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Fibrous Tumor

scholarly journals The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Muhammad Usman Tariq ◽  
Nasir Ud Din ◽  
Jamshid Abdul-Ghafar ◽  
Yong-Koo Park
Keyword(s):  
Soft Tissue ◽  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Surrogate Marker ◽  
Soft Tissue Neoplasms ◽  
World Health ◽  
Main Body ◽  
Nerve Sheath Tumor ◽  
Histological Features ◽  
Fibrous Tumor

Abstract Background Solitary Fibrous Tumor (SFT) is a distinct soft tissue neoplasm associated with NAB2-STAT6 gene fusion. It can involve a number of anatomic sites and exhibits a wide spectrum of histological features. Main body Apart from diversity in morphological features seen even in conventional SFT, two histologic variants (fat-forming and giant cell-rich) are also recognized. In addition, a malignant form and dedifferentiation are well recognized. Owing to diverse histological features and involvement of diverse anatomic locations, SFT can mimic other soft tissue neoplasms of different lineages including schwannoma, spindle cell lipoma, dermatofibrosarcoma protuberans, liposarcoma, gastrointestinal stromal tumor (GIST), malignant peripheral nerve sheath tumor (MPNST), and synovial sarcoma. SFT is classified as an intermediate (rarely metastasizing) tumor according to World Health Organization Classification of Tumors of Soft tissue and Bone, 5th edition. The management and prognosis of SFT differs from its malignant mimics and correct diagnosis is therefore important. Although SFT expresses a distinct immunohistochemical (IHC) profile, the classic histomorphological and IHC profile is not seen in all cases and diagnosis can be challenging. NAB2-STAT6 gene fusion has recently emerged as a sensitive and specific molecular marker and its IHC surrogate marker signal transducer and activator of transcription 6 (STAT6) has also shown significant sensitivity and specificity. However, few recent studies have reported STAT6 expression in other soft tissue neoplasms. Conclusion This review will focus on describing the diversity of histological features of SFT, differential diagnoses and discussing the features helpful in distinguishing SFT from its histological mimics.

Analysis of NAB2-STAT6 Gene Fusion in 17 Cases of Meningeal Solitary Fibrous Tumor/Hemangiopericytoma

2016 ◽  
Vol 40 (8) ◽  
pp. 1031-1040 ◽  
Author(s):  
Sayaka Yuzawa ◽  
Hiroshi Nishihara ◽  
Lei Wang ◽  
Masumi Tsuda ◽  
Taichi Kimura ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Fibrous Tumor

scholarly journals A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion

2015 ◽  
Vol 10 (1) ◽  
Author(s):  
Osamu Ichiyanagi ◽  
Hiromi Ito ◽  
Satoshi Takai ◽  
Sei Naito ◽  
Tomoyuki Kato ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Fibrous Tumor

scholarly journals Papillary Solitary Fibrous Tumor/Hemangiopericytoma: An Uncommon Morphological Form With NAB2-STAT6 Gene Fusion

2019 ◽  
Vol 78 (8) ◽  
pp. 685-693
Author(s):  
Zhi-Gang Yao ◽  
Hai-Bo Wu ◽  
Ying-Hua Hao ◽  
Xing-Fu Wang ◽  
Guang-Zhen Ma ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Immunohistochemical Analysis ◽  
Nuclear Staining ◽  
Collagen Deposition ◽  
Clinicopathologic Features ◽  
Rt Pcr ◽  
Mesenchymal Tumors ◽  
Morphological Form ◽  
Fibrous Tumor

Abstract Solitary fibrous tumor/hemangiopericytomas (SFT/HPCs) are mesenchymal tumors characterized by “staghorn” blood vessels and collagen deposition. Little is known about SFT/HPCs with papillary architecture. We summarized the clinicopathologic features of 12 patients with papillary SFT/HPCs (8 males and 4 females; median age: 59 years), including 8 previously reported cases. Tumors were present in the meninges (75%, 9/12), adrenal gland (8%, 1/12), orbit (8%, 1/12), or spinal canal (8%, 1/12). Six tumors (50%) had a true papillary architecture with fibrovascular cores and 6 tumors (50%) had a pseudopapillary architecture with vascular cores. Nuclear staining for STAT6 was present in all tested tumors (10/10). RT-PCR indicated NAB2 ex6-STAT6 ex17 fusion in 4 tumors (80%, 4/5) and NAB2 ex4-STAT6 ex2 fusion in 1 tumor (20%, 1/5). Five patients (42%, 5/12), all with tumors in the meninges, developed local recurrence at a median of 61 months after surgery (range: 56–165 months; mean: 88.6 months). These results indicated that the papillary architecture is a morphological form of SFT/HPCs. The recognition of this pattern, with appropriate immunohistochemical analysis and assessment of NAB2-STAT6 fusion, should facilitate the distinction of these rare neoplasms from morphologically similar tumors in the meninges, lung, pleura, and soft tissue.

Solitary Fibrous Tumor of the Kidney: A Wide Spectrum of an Uncommon Entity from Benignity to Malignant Metastatic Disease

2015 ◽  
Vol 5 (5) ◽  
pp. 561-569
Author(s):  
S. Rodríguez ◽  
V. Santos ◽  
A. González ◽  
V. Palacios ◽  
F. Fúnez ◽  
...  
Keyword(s):  
Metastatic Disease ◽  
Solitary Fibrous Tumor ◽  
Wide Spectrum ◽  
Fibrous Tumor

scholarly journals Doege-Potter Syndrome with a Benign Solitary Fibrous Tumor: A Case Report and Literature Review

2021 ◽  
pp. 470-476
Author(s):  
Turab Mohammed ◽  
Gonca Ozcan ◽  
Ayesha S. Siddique ◽  
Ronald N. Araneta III ◽  
Dennis E. Slater ◽  
...  
Keyword(s):  
Solitary Fibrous Tumor ◽  
Gene Fusion ◽  
Islet Cell Tumor ◽  
Hypertrophic Osteoarthropathy ◽  
Complete Surgical Resection ◽  
Giant Tumor ◽  
Unclear Etiology ◽  
Fibrous Tumor ◽  
Tumor Hypoglycemia

Doege-Potter syndrome is a rare paraneoplastic syndrome that is often diagnosed incidentally during the workup of hypoglycemia of unclear etiology. It is characterized by a non-islet cell tumor hypoglycemia secondary to excessive production of partially processed IGF-II hormone from a solitary fibrous tumor (SFT). Often these tumors are intrathoracic, benign, and asymptomatic. Occasionally they present as a paraneoplastic event; hypertrophic osteoarthropathy in Pierre-Marie-Bamberger syndrome and hypoglycemia in Doege-Potter syndrome. The NAB2-STAT6 gene fusion is the hallmark of the SFT. Complete surgical resection of the tumor often results in resolution of symptoms and cure in most cases. Here we present the case of an 83-year-old non-diabetic female with recurrent syncopal events who was diagnosed with the Doege-Potter syndrome secondary to a SFT of pleura. Her tumor was positive for NAB2-STAT6 gene fusion on RT-PCR. Following the resection of the giant tumor mass, she became symptom-free within 24 h, and has remained asymptomatic at 4 months follow-up.

Sign in / Sign up

Export Citation Format

Share Document