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.
Titolo: | CD10 and CD34 as markers in vascular malformations with PIK3CA and TEK mutations |
Autori: | TOSI, DELFINA (Secondo) ZOCCA, ALFREDO (Penultimo) BULFAMANTE, GAETANO PIETRO (Ultimo) |
Parole Chiave: | CD10 and CD34 expression; PIK3CA-mTOR pathway; Vascular malformations |
Settore Scientifico Disciplinare: | Settore MED/08 - Anatomia Patologica Settore BIO/10 - Biochimica Settore BIO/11 - Biologia Molecolare |
Data di pubblicazione: | mag-2020 |
Rivista: | |
Tipologia: | Article (author) |
Data ahead of print / Data di stampa: | 6-apr-2020 |
Digital Object Identifier (DOI): | http://dx.doi.org/10.1016/j.humpath.2020.04.001 |
Appare nelle tipologie: | 01 - Articolo su periodico |
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