Dataset Information

Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.

ABSTRACT: BACKGROUND:The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features. RESULTS:We report the case of a small blue round cell tumor with an EWS gene rearrangement detected by fluorescent in situ hybridization (FISH) analysis that mimicked Ewing sarcoma, but with unusual histology and immunohistochemical features. Multi-color karyotyping identified the presence of a t(2;22)(q34;q12) that was initially expected to represent a variant EWSR1-FEV translocation. After an extensive workup, the lesion is considered to represent a clear cell sarcoma harboring an EWSR1-CREB1 fusion transcript. CONCLUSIONS:This case appears to represent a rare variant of clear cell sarcoma arising in peripheral soft tissues with unusual histology and unique immunophenotype. In this circumstance, FISH for all EWSR1 translocation partners or RT- PCR for a spectrum of possible transcript variants is critically important for diagnosis, since cytogenetic analysis or clinical FISH assay using only commercial EWSR1 probes will be misleading.

SUBMITTER: Pacheco M

PROVIDER: S-EPMC2908072 | biostudies-literature | 2010 Jul

REPOSITORIES: biostudies-literature

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Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.

Pacheco Marina M Horsman Douglas E DE Hayes Malcolm M MM Clarkson Paul W PW Huwait Hassan H Nielsen Torsten O TO

Molecular cytogenetics 20100702

<h4>Background</h4>The group of small blue round cell tumors encompasses a heterogeneous group of neoplasms characterized by primitive appearing round cells with few distinguishing histologic features.<h4>Results</h4>We report the case of a small blue round cell tumor with an EWS gene rearrangement detected by fluorescent in situ hybridization (FISH) analysis that mimicked Ewing sarcoma, but with unusual histology and immunohistochemical features. Multi-color karyotyping identified the presence ...[more]

PMID: 20598147

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Project description:The round window membrane (RWM) covers an opening between the perilymph fluid-filled inner ear space and the air-filled middle ear space. As the only non-osseous barrier between these two spaces, the RWM is an ideal candidate for aspiration of perilymph for diagnostics purposes and delivery of medication for treatment of inner ear disorders. Routine access across the RWM requires the development of new surgical tools whose design can only be optimized with a thorough understanding of the RWM's structure and properties. The RWM possesses a layer of collagen and elastic fibers so characterization of the distribution and orientation of these fibers is essential. Confocal and two-photon microscopy were conducted on intact RWMs in a guinea pig model to characterize the distribution of collagen and elastic fibers. The fibers were imaged via second-harmonic-generation, autofluorescence, and Rhodamine B staining. Quantitative analyses of both fiber orientation and geometrical properties of the RWM uncovered a significant correlation between mean fiber orientations and directions of zero curvature in some portions of the RWM, with an even more significant correlation between the mean fiber orientations and linear distance along the RWM in a direction approximately parallel to the cochlear axis. The measured mean fiber directions and dispersions can be incorporated into a generalized structure tensor for use in the development of continuum anisotropic mechanical constitutive models that in turn will enable optimization of surgical tools to access the cochlea. STATEMENT OF SIGNIFICANCE: The Round Window Membrane (RWM) is the only non-osseous barrier separating the middle and inner ear spaces, and thus is an ideal portal for medical access to the cochlea. An understanding of RWM structure and mechanical response is necessary to optimize the design of surgical tools for this purpose. The RWM geometry and the connective fiber orientation and dispersion are measured via confocal and 2-photon microscopy. A region of the RWM geometry is characterized as a hyperbolic paraboloid and another region as a tapered parabolic cylinder. Predominant fiber directions correlate well with directions of zero curvature in the hyperbolic paraboloid region. Overall fiber directions correlate well with position along a line approximately parallel to the central axis of the cochlea's spiral.

Dataset Information

Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.

Publications

Small blue round cell tumor of the interosseous membrane bearing a t(2;22)(q34;q12)/EWS-CREB1 translocation: a case report.

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