Superficial acral fibromyxoma: clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions
Identifikátory výsledku
Kód výsledku v 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>
Nalezeny alternativní kódy
RIV/00216208:11120/17:43912819 RIV/00216208:11140/17:10359895 RIV/00669806:_____/17:10359895
Výsledek na webu
<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>
Alternativní jazyky
Jazyk výsledku
angličtina
Název v původním jazyce
Superficial acral fibromyxoma: clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions
Popis výsledku v původním jazyce
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.
Název v anglickém jazyce
Superficial acral fibromyxoma: clinicopathological, immunohistochemical, and molecular study of 11 cases highlighting frequent Rb1 loss/deletions
Popis výsledku anglicky
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.
Klasifikace
Druh
J<sub>imp</sub> - Článek v periodiku v databázi Web of Science
CEP obor
—
OECD FORD obor
30109 - Pathology
Návaznosti výsledku
Projekt
—
Návaznosti
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Ostatní
Rok uplatnění
2017
Kód důvěrnosti údajů
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Údaje specifické pro druh výsledku
Název periodika
Human Pathology
ISSN
0046-8177
e-ISSN
1532-8392
Svazek periodika
60
Číslo periodika v rámci svazku
February
Stát vydavatele periodika
US - Spojené státy americké
Počet stran výsledku
7
Strana od-do
192-198
Kód UT WoS článku
000394069800026
EID výsledku v databázi Scopus
2-s2.0-85007029702