Aims: Vascular malformations (vMs) encompass a wide range of diseases often associated with somatic or, more rarely, germinal genetic mutations. A mutation in the PIK3Ca/mTOR pathway is more often involved in various vMs. CD10 and CD34 are cellular markers that may play a role in mesenchymal differentiation and proliferation. The aim of our study was to find a possible link between the immunohistochemical expression of CD10 and CD34 in vMs and their relationship with mutations in the PIK3CA/mTOR signaling pathway. Methods and results: Our study on 58 samples of vMs showed that in endothelial cells, CD10 was significantly expressed in PIK3CA-mutated samples compared with samples without any mutation (p < 0.05), especially and even more consistently when compared with samples with mutation in other pathways (p < 0.0001). Conversely, in the same PIK3CA-mutated samples, CD34 expression in endothelial cells was significantly reduced compared with samples either without any mutation or mutations in other pathways (p < 0.05 and p < 0.0005). Compared with samples with mutations in other pathways, a significant overexpression of endothelial CD10 was also found in samples with TEK/TIE2 mutation, a gene linked to the PIK3CA/mTOR pathway (p < 0.01). However, CD34 expression was not altered. In samples with PIK3CA mutation, the CD10 expression was significantly increased in the stroma compared with samples with TEK/TIE2 gene or other gene mutations (p < 0.05). Conclusion: Therefore, the CD10 and CD34 immunohistochemical profile could suggest/support the presence of mutations in the PIK3CA/mTOR pathway in samples of vMs.
CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations / L. Moneghini, D. Tosi, D. Graziani, A. Caretti, G. Colletti, V. Baraldini, E. Cattaneo, L. Spaccini, A. Zocca, G.P. Bulfamante. - In: HUMAN PATHOLOGY. - ISSN 0046-8177. - 99(2020 May), pp. 98-106.
CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations
L. Moneghini
Primo
;D. TosiSecondo
;A. Caretti;A. ZoccaPenultimo
;G.P. BulfamanteUltimo
2020
Abstract
Aims: Vascular malformations (vMs) encompass a wide range of diseases often associated with somatic or, more rarely, germinal genetic mutations. A mutation in the PIK3Ca/mTOR pathway is more often involved in various vMs. CD10 and CD34 are cellular markers that may play a role in mesenchymal differentiation and proliferation. The aim of our study was to find a possible link between the immunohistochemical expression of CD10 and CD34 in vMs and their relationship with mutations in the PIK3CA/mTOR signaling pathway. Methods and results: Our study on 58 samples of vMs showed that in endothelial cells, CD10 was significantly expressed in PIK3CA-mutated samples compared with samples without any mutation (p < 0.05), especially and even more consistently when compared with samples with mutation in other pathways (p < 0.0001). Conversely, in the same PIK3CA-mutated samples, CD34 expression in endothelial cells was significantly reduced compared with samples either without any mutation or mutations in other pathways (p < 0.05 and p < 0.0005). Compared with samples with mutations in other pathways, a significant overexpression of endothelial CD10 was also found in samples with TEK/TIE2 mutation, a gene linked to the PIK3CA/mTOR pathway (p < 0.01). However, CD34 expression was not altered. In samples with PIK3CA mutation, the CD10 expression was significantly increased in the stroma compared with samples with TEK/TIE2 gene or other gene mutations (p < 0.05). Conclusion: Therefore, the CD10 and CD34 immunohistochemical profile could suggest/support the presence of mutations in the PIK3CA/mTOR pathway in samples of vMs.File | Dimensione | Formato | |
---|---|---|---|
CD10 AND CD34 AS MARKERS IN VASCULAR MALFORMATIONS WITH PIK3CA.pdf
Open Access dal 07/04/2021
Tipologia:
Post-print, accepted manuscript ecc. (versione accettata dall'editore)
Dimensione
581.77 kB
Formato
Adobe PDF
|
581.77 kB | Adobe PDF | Visualizza/Apri |
1-s2.0-S0046817720300666-main.pdf
accesso riservato
Tipologia:
Publisher's version/PDF
Dimensione
2.29 MB
Formato
Adobe PDF
|
2.29 MB | Adobe PDF | Visualizza/Apri Richiedi una copia |
Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.