Abstract
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. Mutations of the ENG and ACVRL1 genes cause at least 80% of cases. We report the first case of merkeloma found in a patient with HHT carrying an ENG mutation. We analysed the tumour with immunohistochemical methods using primary antibodies against CD105 (endoglin), TGF-β, Smad4, CD31 and CD34. Tumour cells were positive for Smad4, weakly positive for TGF-β, and negative for CD105. Vasal endothelial cells were highly positive for CD105, CD31 and CD34. No remarkable differences between cancer and normal cells in our patient or between the patient's merkeloma and two control merkelomas were observed. The presence of a merkeloma in an HHT patient could be an occasional association, but to certainly assume it further investigations are needed.
| Original language | English |
|---|---|
| Journal | BMJ Case Reports |
| DOIs | |
| Publication status | Published - Feb 8 2010 |
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ASJC Scopus subject areas
- Medicine(all)
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Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia. / Rossi, Elisa; Boeri, Laura; Morbini, Patrizia; Pagella, Fabio; Colombo, Andrea; Matti, Elina; Olivieri, Carla; Villanacci, Vincenzo; Minelli, Antonella; Buscarini, Elisabetta; Canzonieri, Cecilia; Danesino, Cesare.
In: BMJ Case Reports, 08.02.2010.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Immunohistochemical analysis of a merkeloma observed in a patient affected by hereditary haemorrhagic telangiectasia
AU - Rossi, Elisa
AU - Boeri, Laura
AU - Morbini, Patrizia
AU - Pagella, Fabio
AU - Colombo, Andrea
AU - Matti, Elina
AU - Olivieri, Carla
AU - Villanacci, Vincenzo
AU - Minelli, Antonella
AU - Buscarini, Elisabetta
AU - Canzonieri, Cecilia
AU - Danesino, Cesare
PY - 2010/2/8
Y1 - 2010/2/8
N2 - Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. Mutations of the ENG and ACVRL1 genes cause at least 80% of cases. We report the first case of merkeloma found in a patient with HHT carrying an ENG mutation. We analysed the tumour with immunohistochemical methods using primary antibodies against CD105 (endoglin), TGF-β, Smad4, CD31 and CD34. Tumour cells were positive for Smad4, weakly positive for TGF-β, and negative for CD105. Vasal endothelial cells were highly positive for CD105, CD31 and CD34. No remarkable differences between cancer and normal cells in our patient or between the patient's merkeloma and two control merkelomas were observed. The presence of a merkeloma in an HHT patient could be an occasional association, but to certainly assume it further investigations are needed.
AB - Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterised by epistaxis, telangiectases, and multiorgan vascular dysplasia. Mutations of the ENG and ACVRL1 genes cause at least 80% of cases. We report the first case of merkeloma found in a patient with HHT carrying an ENG mutation. We analysed the tumour with immunohistochemical methods using primary antibodies against CD105 (endoglin), TGF-β, Smad4, CD31 and CD34. Tumour cells were positive for Smad4, weakly positive for TGF-β, and negative for CD105. Vasal endothelial cells were highly positive for CD105, CD31 and CD34. No remarkable differences between cancer and normal cells in our patient or between the patient's merkeloma and two control merkelomas were observed. The presence of a merkeloma in an HHT patient could be an occasional association, but to certainly assume it further investigations are needed.
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UR - http://www.scopus.com/inward/citedby.url?scp=84896524073&partnerID=8YFLogxK
U2 - 10.1136/bcr.09.2009.2251
DO - 10.1136/bcr.09.2009.2251
M3 - Article
AN - SCOPUS:84896524073
JO - BMJ Case Reports
JF - BMJ Case Reports
SN - 1757-790X
ER -