Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia

Kralik, Johanna Marlene; Kranewitter, Wolfgang; Boesmueller, Hans; Marschon, Renate; Tschurtschenthaler, G.; Rumpold, Holger; Wiesinger, K; Erdel, Martin; Petzer, Andreas; Webersinke, Gerald

doi:10.1186/1746-1596-6-19

Cited by 89 publications

(68 citation statements)

References 15 publications

(26 reference statements)

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“…26 Other examples include involvement of ALK-TPM3 in inflammatory myofibroblastic tumor and anaplastic large cell lymphomas, and ETV6-NTRK in infantile fibrosarcoma, secretory breast carcinomas, and acute myeloid leukemia. 24,31 These findings challenge the previously held notion that recurrent translocations are unique to a particular sarcoma or tumor class. A similar scenario is possible for sclerosing epithelioid fibrosarcoma and low-grade fibromyxoid sarcoma.…”

Section: Resultsmentioning

confidence: 63%

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

et al. 2012

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Several recent reports have described low-grade fibromyxoid sarcoma with sclerosing epithelioid fibrosarcoma-like areas. We evaluated cases of pure sclerosing epithelioid fibrosarcoma lacking areas of low-grade fibromyxoid sarcoma for FUS rearrangement to determine whether this entity could be related to low-grade fibromyxoid sarcoma. Available formalin-fixed paraffin-embedded tissue of 27 sclerosing epithelioid fibrosarcoma from 25 patients was retrieved and tabulated with clinical information. Unstained slides from formalin-fixed paraffin-embedded blocks were prepared and fluorescence in-situ hybridization was performed using a commercial FUS break-apart probe. The median patient age at presentation was 50 (range, 14-78) years, with 14 males and 10 females. Sclerosing epithelioid fibrosarcoma most commonly involved the extremities (n ¼ 8) or chest (n ¼ 6). Sixteen patients had a median follow-up of 17 (range, 1-99) months; seven were alive and well at 12 (range, 5-30) months; three alive with disease at 28 (range, 9-99) months; five dead of disease at a median of 22 (range, 1-36) months and one was dead of unknown causes. Twelve patients were known to have metastases; the most common site was lung (n ¼ 7), followed by bone (n ¼ 3), lymph nodes (n ¼ 2) and peritoneum (n ¼ 1). Only 2 of 22 (9%) analyzable cases of sclerosing epithelioid fibrosarcoma showed rearrangement in the FUS locus by fluorescence in-situ hybridization. Although cytogenetically confirmed lowgrade fibromyxoid sarcoma can have sclerosing epithelioid fibrosarcoma-like areas, FUS rearrangement, which is characteristic of low-grade fibromyxoid sarcoma, appears to be relatively rare in pure sclerosing epithelioid fibrosarcoma.

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Section: Resultsmentioning

confidence: 63%

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

et al. 2012

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“…Accordingly, it is quite necessary for finding more valuable biomarkers to improve our understanding of the biology of leukemia and identify those who tend to have adverse prognosis as well as optimize treatment strategies in CN-AML patients. Nowadays, considerable progress has been made in identifying, characterizing and applying new molecular markers (33,34), including miRNAs that were known to be dysregulated during oncogenesis. Due to their advantages of easy detection and less degradation, a growing number of miRNAs has been reported to be biomarkers involved in tumor progression, diagnosis, prognosis and so on (35)(36)(37).…”

Section: Discussionmentioning

confidence: 99%

ReducedmiR-215expression predicts poor prognosis in patients with acute myeloid leukemia

Wang

Zhang

Yang

et al. 2016

Jpn. J. Clin. Oncol.

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Objective: Abnormal expression of microRNA-215 has been identified in a variety of solid cancers. However, little is known about the expression pattern of microRNA-215 in acute myeloid leukemia. This study was to investigate the status of microRNA-215 expression and further analyze its clinical significance in acute myeloid leukemia. Methods: Real-time quantitative polymerase chain reaction assay was performed to evaluate the expression level of microRNA-215 in 113 patients with acute myeloid leukemia. Besides, the relationship between microRNA-215 levels and clinical and pathological factors was explored. Results: Compared with the healthy individuals, microRNA-215 expression in acute myeloid leukemia patients was significantly down-regulated (P = 0.001). MicroRNA-215 low-expressed patients had higher white blood cells than microRNA-215 high-expressed patients (P = 0.014). The incidence of FLT3/ITD mutation in the patients with low microRNA-215 expression was significantly higher than those with high microRNA-215 expression (P = 0.025). MicroRNA-215 low-expressed patients had significantly shorter overall survival than microRNA-215 high-expressed patients in both non-M3 acute myeloid leukemia patients and cytogenetically normal patients (P = 0.017 and P = 0.044, respectively). Meanwhile, multivariate analysis confirmed the adverse prognostic value of microRNA-215 expression in acute myeloid leukemia patients with non-M3 subtypes. Conclusions: Our study demonstrates that reduced microRNA-215 expression is a common event and is associated with poor clinical outcome in acute myeloid leukemia.

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“…Both tumors have the t(12;15) (p13;q25) translocation which creates the ETV6-NTRK3 fusion gene [1,2]. This fusion gene has also been detected in congenital fibrosarcoma, the cellular variant of congenital mesoblastic nephroma and rare cases of acute myelogenous leukemia [3][4][5][6][7]. While secretory carcinoma of the breast is a rare carcinoma subtype, the incidence of MASC is yet unknown.…”

Section: Introductionmentioning

confidence: 99%

Morphology in Conjunction with Immunohistochemistry is Sufficient for the Diagnosis of Mammary Analogue Secretory Carcinoma

Shah

Wenig

LeGallo

et al. 2014

Head and Neck Pathol

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The recently described mammary analogue secretory carcinoma (MASC) is a low-grade salivary gland malignancy that harbors the recurrent cytogenetic abnormality t(12;15) (p13;q25) ETV6-NTRK3. Confirmation of this is currently considered the gold standard for diagnosis. Some have postulated that morphology together with supporting immunohistochemistry is sufficient to diagnose MASC. In this study we retrospectively review a series of 19 MASCs diagnosed based on histology in conjunction with immunohistochemistry; subsequently we performed in situ hybridization using an ETV6 break-apart probe. Immunohistochemistry for S100 protein and mammaglobin as well as fluorescence in situ hybridization using the Vysis ETV6 Dual Color Break-Apart FISH Probe Kit were performed on all cases. The 19 cases were from 12 females and 7 males with ages ranging from 16 to 76 years (mean = 45 years). Sixteen cases were from the parotid gland, 1 case was from a periparotid lymph node and 2 cases were from the submandibular gland. All 19 cases demonstrated moderate to strong expression of S100 protein. Eighteen cases demonstrated strong, diffuse expression of mammaglobin, while one case had only rare tumor cells that strongly expressed mammaglobin. Eighteen of 19 cases (95 %) demonstrated the ETV6 rearrangement by fluorescence in situ hybridization. Given that morphology together with immunohistochemistry is highly correlated with the ETV6 gene rearrangement, we conclude that molecular confirmation is not required to diagnose MASC.Keywords Mammary analogue secretory carcinoma Á Salivary gland Á ETV6 Á Fluorescence in situ hybridization Á Immunohistochemistry Á Mammaglobin

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Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia

Cited by 89 publications

References 15 publications

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

FUS rearrangements are rare in ‘pure' sclerosing epithelioid fibrosarcoma

ReducedmiR-215expression predicts poor prognosis in patients with acute myeloid leukemia

Morphology in Conjunction with Immunohistochemistry is Sufficient for the Diagnosis of Mammary Analogue Secretory Carcinoma

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