Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Alessandro Pecci; Patrizia Noris; Rosangela Invernizzi; Anna Savoia; Marco Seri; Gian Marco Ghiggeri; Saverio Sartore; Simone Gangarossa; Nicola Bizzaro; Carlo L. Balduini

doi:10.1046/j.1365-2141.2002.03385.x

Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders

Alessandro Pecci, Patrizia Noris, Rosangela Invernizzi, Anna Savoia, Marco Seri, Gian Marco Ghiggeri, Saverio Sartore, Simone Gangarossa, Nicola Bizzaro, Carlo L. Balduini

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Pages (from-to)	164-167
Number of pages	4
Journal	British Journal of Haematology
Volume	117
Issue number	1
DOIs	https://doi.org/10.1046/j.1365-2141.2002.03385.x
Publication status	Published - 2002

Keywords

Fechtner syndrome
Macrothrombocytopenia
May-Hegglin anomaly
MYH9 gene
Non-muscle myosin

ASJC Scopus subject areas

Hematology

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Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. / Pecci, Alessandro ; Noris, Patrizia ; Invernizzi, Rosangela ; Savoia, Anna; Seri, Marco; Ghiggeri, Gian Marco; Sartore, Saverio; Gangarossa, Simone; Bizzaro, Nicola; Balduini, Carlo L.

In: British Journal of Haematology, Vol. 117, No. 1, 2002, p. 164-167.

Research output: Contribution to journal › Article › peer-review

Pecci, Alessandro ; Noris, Patrizia ; Invernizzi, Rosangela ; Savoia, Anna ; Seri, Marco ; Ghiggeri, Gian Marco ; Sartore, Saverio ; Gangarossa, Simone ; Bizzaro, Nicola ; Balduini, Carlo L. / Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. In: British Journal of Haematology. 2002 ; Vol. 117, No. 1. pp. 164-167.

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abstract = "May-Hegglin anomaly (MHA), Sebastian syndrome (SBS) and Fechtner syndrome (FTNS) are autosomal-dominant macrothrombocytopenias with D{\"o}hle-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 D{\"o}hle-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.",

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author = "Alessandro Pecci and Patrizia Noris and Rosangela Invernizzi and Anna Savoia and Marco Seri and Ghiggeri, {Gian Marco} and Saverio Sartore and Simone Gangarossa and Nicola Bizzaro and Balduini, {Carlo L.}",

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AU - Savoia, Anna

AU - Seri, Marco

AU - Ghiggeri, Gian Marco

AU - Sartore, Saverio

AU - Gangarossa, Simone

AU - Bizzaro, Nicola

AU - Balduini, Carlo L.

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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.

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