Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P10415 (Bcl-2)
 33,771 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We experienced a peculiar case of orbital mesenchymal tumor in a 22-year-old Japanese woman. The tumor showed a papillary proliferating pattern, but no typical hemangiopericytomatous staghorn vessels. The tumor was composed of round to oval shaped cells with oval nuclei and mild nuclear atypia. Abundant vascular cores were present in the central portion of papillary proliferations of tumor cells. Immunohistochemistry revealed that the tumor cells were positive for CD34 and bcl2. Moreover, they showed positive nuclear signals of STAT6, which have recently been shown to be specific for solitary fibrous tumors. In the literature, only one case of solitary fibrous tumor with papillary and retiform growth pattern has been reported, but the case partially showed the typical staghorn vessel pattern. Although the definite diagnosis is difficult in the settings of the unusual histology and the deficiency of NAB2-STAT6 fusion, it is possible that this STAT6-positive intraorbital papillary tumor is a very rare variant of solitary fibrous tumor.
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PMID:STAT6-positive intraorbital papillary tumor: a rare variant of solitary fibrous tumor? 2470 27

Using whole exome and transcriptome sequencing, NAB2-STAT6 gene fusions have recently been identified in patients with solitary fibrous tumors (SFT). We report two cases of SFT in which NAB2-STAT6 fusions were identified. The patients were a 32-year-old man with a parasagittal tumor involving the superior sagittal sinus, and a 40-year-old man with a cerebellar convexity tumor partially involving the transverse sinus. Their tumors were gross totally resected and diagnosed to be SFT according to the following pathological findings:the tumors were composed of spindle cells with a patternless architecture, with prominent stromal collagen and staghorn vessels. An immunohistochemical study yielded positive results for CD34, CD99, and Bcl-2 and negative results for EMA, GFAP, and S100. The MIB-1 indexes were 13 and 7%, respectively. NAB2-STAT6 fusions were detected in both cases with a common fusion variant, NAB2ex6-STAT6ex16/17. We also identified NAB2-STAT6 fusions in two hemangiopericytomas diagnosed in the past with a common variant of NAB2ex6-STAT6ex16/17. These findings suggest that solitary fibrous tumor and hemangiopericytoma may be diagnosed based on the presence of NAB2-STAT6 fusion, and not classified separately because of the same genetic background.
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PMID:[Two Cases of Primary Intracranial Solitary Fibrous Tumor:Genetic Examination of <i>NAB2-STAT6</i> Fusion and Its Association with Hemangiopericytoma]. 2613 29

Solitary fibrous tumors (SFTs)/hemangiopericytomas (HPCs) are uncommon mesenchymal neoplasms of fibroblastic type that can arise anywhere in the body. Recently, NGFI-A binding protein 2 (NAB2)-signal transducer and the activator of transcription 6 (STAT6) fusion gene were discovered as a hallmark of SFTs/HPCs by using whole-exome, and transcriptome sequencing; consequently, the fusion gene can be rapidly detected by STAT6 immunohistochemistry. In this study, 53 formalin-fixed, paraffin-embedded (FFPE) tissues were performed using immunohistochemistry with antibodies against STAT6, CD34, CD99 and Bcl-2. Nuclear STAT6 positive staining was present in 51 cases (51/53, sensitivity 96.2%), which were usually diffuse (4+ in 14 cases; 3+ in 13 cases; 2+ in 9 cases; 1+ in 15 cases) and intense (strong in 17 cases; moderate in 22 cases; and weak in 12 cases) staining. CD34 was positive in 47 cases (47/53, sensitivity 88.7%), CD99 was positive in 50 cases (50/53, sensitivity 94.3%) and Bcl-2 was positive in 51 cases (51/53, sensitivity 96.2%). There is no difference among categories such as age, sex, location, tumor size, or estimated dignity in immunohistochemical staining of STAT6, CD34, CD99 and Bcl-2. The nuclear STAT6 being positive is a helpful and highly sensitive marker in diagnosis of SFTs/HPCs. Considering immunohistochemical STAT6, CD34, CD99 and Bcl-2 findings together can provide more supportive diagnostic information.
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PMID:Immunohistochemical detection of STAT6, CD34, CD99 and BCL-2 for diagnosing solitary fibrous tumors/hemangiopericytomas. 2672 15

We herein report the clinical, radiological, and pathological findings of a rare case of a solitary fibrous tumor (SFT) occurring in the breast parenchyma of a 62-year-old female. The tumor was incidentally detected at a mammographic screening, and, ultrasonographically, presented as a single, well-circumscribed nodule. On needle core biopsy, the diagnosis of SFT was suggested based on a proliferation of CD34-positive spindly cells set in a fibrous stroma containing medium-sized blood vessels with hyalinization of their walls and branching configuration. The diagnosis was confirmed in the excised specimen, which exhibited a tumor with an immunohistochemical profile consistent with SFT, including diffuse expression of CD34, CD99 and bcl2. As STAT6 nuclear immunoexpression is the result of the inv12(q13q13)-derived NAB2-STAT6 fusion, which characterizes SFT, we analyzed immunohistochemically our case with a commercially available anti-STAT6 antibody. We showed that mammary SFT exhibits a diffuse nuclear STAT6 immunoreactivty, suggesting its potential diagnostic role. The present case emphasizes that the diagnosis of SFT can be confidentially rendered on needle core biopsy. Although SFT is suspected on characteristic morphologic features, immunohistochemistry, revealing immunoreactivity for CD34, bcl-2, CD99 and STAT6, is crucial in the differential diagnosis of potential benign and malignant mimics.
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PMID:Solitary fibrous tumor of the breast: report of a case with emphasis on diagnostic role of STAT6 immunostaining. 2677 86

We present a rare case of giant cell-rich solitary fibrous tumor (SFT) arising at the left external auditory canal in a 31-year-old woman. The tumor was well-circumscribed and composed of spindle-shaped cells with abundant collagenous bands. Scattered multinucleate giant cells were observed, some of which lined pseudovascular spaces. Although a focal mild-hypercellular area was observed, mitoses were rare and necrosis was absent. Interstitial mast cells were scattered, especially in the hypercellular area. Immunohistochemically, CD34, vimentin, and Bcl-2 presented diffuse positivity. Moreover, both mononuclear spindle cells and multinucleate cells showed nuclear STAT6 positivity, while NAB2-STAT6 fusion gene could not be detected by reverse transcription polymerase chain reaction using formalin-fixed specimen. These findings suggest the pathological diagnosis of giant cell-rich SFT, previously known as giant cell angiofibroma, which is a rare variant of SFT with multinucleate giant cells and occurs predominantly in orbital region. Although giant cell-rich SFTs of extra-orbital sites have been reported, to our knowledge, this is the first case arising in the external auditory canal. Giant cell-rich SFT should be considered as a differential diagnosis of spindle cell lesion with multinucleate giant cells, and STAT6 immunohistochemistry should be performed to distinguish this rare tumor from other mesenchymal neoplasms.
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PMID:A case of giant cell-rich solitary fibrous tumor in the external auditory canal. 2771 38

Solitary fibrous tumor/hemangiopericytoma with primary tumor location in the central nervous system accounts for less than 1% of all central nervous system tumors. Despite the relatively indolent clinical course, extracranial metastases are reported in 28% of cases. In recent years, NAB2-STAT6 gene fusion has been recognized as the pathognomonic molecular feature of solitary fibrous tumor/hemangiopericytoma and STAT6 immunohistochemistry has been shown to be a sensitive and specific surrogate for the identification of the gene fusion in these patients. Here we report two cases of patients who experienced occurrence of diffuse extracranial metastases several years after successful surgery for an intracranial solitary fibrous tumor/hemangiopericytoma. In the first patient, the metastases had maintained similar histological features to the primary tumor; in contrast, in the second case, a dedifferentiation occurred with loss of expression of CD34 and Bcl-2. These different histological features were associated with radically different behaviors. Whereas the first case experienced an indolent course of the disease, the second patient had a rapid disease progression and deterioration of clinical conditions. The molecular imaging findings in these two cases and the role of functional imaging for tumor detection, disease staging and monitoring in this rare cancer are also discussed. Recurrences and metastases maintained high expression of somatostatin receptors confirmed by somatostatin receptor imaging in the first case. In contrast, in the second patient, the abrupt transition into a highly aggressive form was associated with the absence of somatostatin receptors at 111In Pentetreotide scan and intense hypermetabolism at 18F-FDG PET.
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PMID:Metastatic intracranial solitary fibrous tumors/hemangiopericytomas: description of two cases with radically different behaviors and review of the literature. 3197 91

A solitary fibrous tumor (SFT) is a rare spindle cell tumor-derived from mesenchymal cells. It may be linked to the fusion of the NAB2-STAT6 gene caused by 12q chromosome rearrangement. It can occur in the connective tissue of any part of the body; however, it is most common in the pleura. Solitary fibrous tumors of the pleura (SFTP) are a persistent painless mass with slow growth. With the increase of the tumor, there will be corresponding compression symptoms. Pleural effusion is rare, and the cytology of pleural effusion is mostly negative. Occasionally, SFTP can induce paraneoplastic syndrome, distant metastasis, and malignant transformation. Lung function may have mild to moderate restrictive ventilation dysfunction. CT is a crucial method for the clinical diagnosis of SFTP. The histopathological features of SFTP are the coexistence of sparse and dense areas. CD34, CD99, Bcl-2, and vimentin are the most valuable immunohistochemical markers.The positive expression rate of STAT6 in benign SFT was even 100%. Adhesion or unclear boundary with surrounding tissues, pleural effusion or calcification, tumors with a maximum diameter greater than 10 cm, invasive growth, uneven density, metastasis or recurrence, paraneoplastic syndrome, moderate to severe cell heterogeneity, high Ki67 proliferation index, and low STAT6 expression suggest SFTP may be a malignant tumor. Gene analysis on next generation sequencing may help reveal the mutation characteristics of SFTP. Complete tumor resection is the gold standard of SFTP. Resectability is the most important prognostic factor. Age, size, mitosis, and necrosis are considered risk stratification factors for prognosis. Fortunately, 80% of SFTP are benign and have anexcellentprognosis but need long-term follow-up.We report a case of rapidly growing tumor with pleural effusion within 9 months, who was surgically treated and is currently under follow-up. And the literature is reviewed.
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PMID:Rapidly growing solitary fibrous tumors of the pleura: a case report and review of the literature. 3279 34