TY - JOUR
T1 - Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders
AU - Pecci, Alessandro
AU - Noris, Patrizia
AU - Invernizzi, Rosangela
AU - Savoia, Anna
AU - Seri, Marco
AU - Ghiggeri, Gian Marco
AU - Sartore, Saverio
AU - Gangarossa, Simone
AU - Bizzaro, Nicola
AU - Balduini, Carlo L.
PY - 2002
Y1 - 2002
N2 - May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Döhle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders.
AB - May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with Döhle-like leucocyte inclusions. These diseases are due to mutations of the MHY9 gene, encoding the heavy chain of non-muscle myosin IIA (NMMHC-A). We investigated the NMMHC-A localization in blood cells from eight MHA, SBS or FTNS patients with known MYH9 mutations. All the patients showed an altered localization of NMMHC-A in granulocytes and platelets, suggesting that Döhle-like bodies are due to the aggregation of NMMHC-A in the cytoplasm. Therefore, immunocytochemistry for NMMHC-A is a simple and sensitive method to detect pathological phenotypes of granulocytes and platelets in the diagnosis of MYH9-related disorders.
KW - Fechtner syndrome
KW - Macrothrombocytopenia
KW - May-Hegglin anomaly
KW - MYH9 gene
KW - Non-muscle myosin
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U2 - 10.1046/j.1365-2141.2002.03385.x
DO - 10.1046/j.1365-2141.2002.03385.x
M3 - Article
C2 - 11918549
AN - SCOPUS:0036229482
VL - 117
SP - 164
EP - 167
JO - British Journal of Haematology
JF - British Journal of Haematology
SN - 0007-1048
IS - 1
ER -