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%2F00064173%3A_____%2F17%3AN0000215" target="_blank" >RIV/00064173:_____/17:N0000215 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/17:43912819 RIV/00216208:11140/17:10359895 RIV/00669806:_____/17:10359895
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
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
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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
1532-8392
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