Diagnostic utility of NCOA2 fluorescence in situ hybridization and Stat6 immunohistochemistry staining for soft tissue angiofibroma and morphologically similar fibrovascular tumors

Sugita, Shintaro; Aoyama, Tomoyuki; Kondo, Kei; Keira, Yoshiko; Ogino, Jiro; Nakanishi, Katsuya; Kaya, Mitsunori; Emori, Makoto; Tsukahara, Tomohide; Nakajima, Hisaya; Takagi, Masayuki; Hasegawa, Tadashi

doi:10.1016/j.humpath.2013.12.022

Cited by 30 publications

(49 citation statements)

References 16 publications

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“…In addition, Arbajian et al (6) demonstrated a general transcription factor IIi (GTF2I)-NCOA2 fusion gene in a AFST with a three-way t(7;8;14)(q11;q13;q31) translocation, emphasizing the role of NCOA2. Furthermore, a small proportion of NCOA2 gene rearrangement-positive cells have been observed in almost all cases by fluorescence in situ hybridization (3,7). However, it has been noted that a substantial subset of AFSTs were negative for the fusion gene (3,5), as in the current case.…”

Section: Discussionsupporting

confidence: 59%

Intra‑articular angiofibroma of soft tissue of the knee: A case report

et al. 2017

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Abstract. Angiofibroma of soft tissue (AFST) is an extremely rare soft tissue neoplasm that typically presents as a slow-growing, painless mass in the extremities. The present study reports an unusual case of an intra-articular AFST occurring in the left knee of a 23-year-old female. Physical examination revealed a 3-cm, relatively mobile, elastic-hard, non-tender mass. Magnetic resonance imaging detected an intra-articular soft tissue mass with iso-signal intensity relative to skeletal muscle on T1-weighted sequences and heterogeneous high signal intensity on T2-weighted sequences. Contrast-enhanced fat-suppressed T1-weighted sequences demonstrated strong peripheral enhancement of the mass. An arthroscopic excision of the mass was performed. Histologically, the tumor was composed of spindle-or oval-shaped cells in a fibromyxoid stroma with a prominent vascular pattern. Immunohistochemically, the tumor cells were diffusely positive for vimentin and CD163 and focally positive for CD68, desmin and estrogen receptor. Based on these findings, the tumor was diagnosed as an AFST. The patient had no evidence of local recurrence within 9 months of follow-up. To the best of our knowledge, this is the first case of intra-articular AFST managed successfully with arthroscopic excision.

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Section: Discussionsupporting

confidence: 59%

Intra‑articular angiofibroma of soft tissue of the knee: A case report

et al. 2017

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“…In addition, we experienced a peculiar CD34-positive tumor with a rich, but potentially misleading, vascular network of lobules of capillaries and dilated staghorn vessels, which closely mimicked a soft-tissue angiofibroma but turned out to be a solitary fibrous tumor with diffuse STAT6 nuclear expression. 32 Except for nonspecific cytoplasmic staining found randomly in few cases, the diagnostic specificity of STAT6 was also exemplified in 98 histological mimics, which embraced 37 benign or malignant mesenchymal tumor types and lacked STAT6 nuclear expression in every sample tested. Some tumor types in the negative control group had never been previously examined for STAT6, such as superficial angiomyxoma, juvenile nasopharyngeal angiofibroma, inflammatory fibroid polyp, angiomatoid fibrous histiocytoma, and spindle cell/sclerosing rhabdomyosarcoma.…”

Section: Discussionmentioning

confidence: 97%

NAB2–STAT6 fusion types account for clinicopathological variations in solitary fibrous tumors

et al. 2015

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Solitary fibrous tumor (SFT) is characterized by the inv12(q13q13)-derived NAB2-STAT6 fusion, which exhibits variable breakpoints and drives STAT6 nuclear expression. The implications of NAB2-STAT6 fusion variants in pathological features and clinical behavior remain to be characterized in a large cohort of SFTs. We investigated the clinicopathological correlates of this genetic hallmark and analyzed STAT6 immunoexpression in 28 intrathoracic, 37 extrathoracic, and 23 meningeal SFTs. These 88 tumors were designated as histologically nonmalignant in 75 cases and malignant in 13, including 1 dedifferentiated SFT. Eighty cases had formalin-fixed and/or fresh samples to extract assessable RNAs for RT-PCR assay, which revealed NAB2-STAT6 fusion variants comprising 12 types of junction breakpoints in 73 fusion-positive cases, with 65 (89%) falling into 3 major types. The predominant NAB2ex4-STAT6ex2 (n = 33) showed constant breakpoints at the ends of involved exons, whereas the NAB2ex6-STAT6ex16 (n = 16) and NAB2ex6-STAT6ex17 (n = 16) might exhibit variable breakpoints and incorporate NAB2 or STAT6 intronic sequence. Including 73 fusion-positive and 7 CD34-negative SFTs, STAT6 distinctively labeled 87 (99%) SFTs in nuclei, exhibited diffuse reactivity in 73, but did not decorate 98 mimics tested. In seven fusion-negative cases, 6 were STAT6-positive, suggesting rare fusion variants not covered by RT-PCR assay. Regardless of histological subtypes, intrathoracic SFTs affected older patients (P = 0.035) and tended to be larger in size (P = 0.073). Compared with other variants, NAB2ex4-STAT6ex2/4 fusions were significantly predominant in the SFTs characterised by intrathoracic location (Po 0.001), older age (P = 0.005), decreased mitoses (P = 0.0028), and multifocal or diffuse STAT6 staining (P = 0.013), but not found to correlate with disease-free survival. Conclusively, STAT6 nuclear expression was distinctive in the vast majority of SFTs, including all fusion-positive tumors, and exploitable as a robust diagnostics of CD34-negative cases. Despite the associations of NAB2-STAT6 fusion variants with several clincopathological factors, their prognostic relevance should be further validated in large-scale prospective studies of SFTs.

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“…Several additional case reports and small series published since their initial description further support that this lesion is a new and distinct entity. [5][6][7][8] Angiofibroma of soft tissue is a slowgrowing tumor of the subcutis or deep soft tissue most commonly arising in the extremities (lower > upper) of adults, or, less frequently, children/adolescents. There is a roughly 2:1 female predominance.…”

Section: Angiofibroma Of Soft Tissuementioning

confidence: 99%

“…This translocation can be detected by conventional cytogenetic karyotyping, reverse-transcriptase polymerase chain reaction (RT-PCR), or break-apart FISH. 4,5,8,9 …”

Section: Pathologic Featuresmentioning

confidence: 99%

“…SFT usually displays strong diffuse CD34 expression, nuclear STAT6 expression, and recurrent NAB2-STAT6 gene fusions. 5,11 Low-grade myxofibrosarcoma has a myxoid background but usually with long curvilinear vessels rather than abundant plexiform vessels; it also differs from angiofibroma of soft tissue by the presence of overtly malignant features, such as prominent nuclear pleomorphism and mitotic activity. Cellular angiofibroma is similar in name, but unlike angiofibroma of soft tissue, it occurs mostly in the genital region, has thicker vessels with less branching, and has histologic and molecular features similar to spindle cell lipoma.…”

Section: Differential Diagnosismentioning

confidence: 99%

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