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Superficial acral fibromyxoma: clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F17%3A43912819" target="_blank" >RIV/00216208:11120/17:43912819 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11140/17:10359895 RIV/00669806:_____/17:10359895 RIV/00064173:_____/17:N0000215

  • Result on the web

    <a href="http://dx.doi.org/10.1016/j.humpath.2016.10.016" target="_blank" >http://dx.doi.org/10.1016/j.humpath.2016.10.016</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.humpath.2016.10.016" target="_blank" >10.1016/j.humpath.2016.10.016</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Superficial acral fibromyxoma: clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions

  • Original language description

    Superficial acral fibromyxoma (SAF) is an uncommon benign dermal mesenchymal lesion of adults with predilection for acral sites, in particular the nail region. To date, less than 300 cases have been reported. SAFs consistently express CD34, but other diagnostic markers or specific genetic alterations have not been established yet. We describe 11 SAFs occurring in 7 men and 4 women aged 37 to 86 years (median, 48 years). Mean size was 6 mm (range, 4-20 mm). Affected sites were fingers (n = 5), toes (n = 3), heel (n = 1), calf (n = 1), and unspecified digit (n = 1). None of 10 patients with available follow-up (2-60 months; median, 24 months) developed recurrence. Histology showed relatively hypocellular vaguely lobulated nodules composed of bland-looking spindled or stellate fibroblast-like cells arranged into storiform or loose fascicles within a variably myxoid, fibromyxoid, or collagenous vascularized stroma. Immunohistochemistry showed expression of CD34 (9/10) and focal weak reactivity for epithelial membrane antigen (2/11). None of the lesions expressed protein S100 (0/11), MUC4 (0/11), or STAT6 (0/11). Loss of Rb1 immunoexpression was observed in 9 (90%) of 10 cases. All 7 cases with successful RB1 fluorescence in situ hybridization testing showed RB1 gene deletions, which was variably associated with co-loss of the corresponding 13q12 signal (monosomy at the 13q region). To our knowledge, this is the first study investigating the expression status of the tumor suppressor Rb1 in SAF by immunohistochemistry and fluorescence in situ hybridization. Our results showed frequent Rb1 deficiency as a possible driver molecular event in SAF (seen in 90% of cases) indicating relationship of SAF to the RB1-deleted tumor family.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30109 - Pathology

Result continuities

  • Project

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2017

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Human Pathology

  • ISSN

    0046-8177

  • e-ISSN

  • Volume of the periodical

    60

  • Issue of the periodical within the volume

    February

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    7

  • Pages from-to

    192-198

  • UT code for WoS article

    000394069800026

  • EID of the result in the Scopus database

    2-s2.0-85007029702