<i><scp>MYD</scp>88</i> L265P mutation contributes to the diagnosis of Bing Neel syndrome
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- Stéphanie Poulain
- Service d'Hématologie‐Immunologie –Cytogénétique Centre Hospitalier de Valenciennes Valenciennes France
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- Eileen M. Boyle
- U837 IRCL Lille France
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- Christophe Roumier
- Laboratoire d'Hématologie Centre de Biologie Pathologie CHRU Lille France
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- Hélène Demarquette
- Service d'Hématologie Clinique Centre Hospitalier de Valenciennes Valenciennes France
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- Mathieu Wemeau
- Service des Maladies du Sang Hôpital Huriez CHRU Lille France
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- Sandrine Geffroy
- Laboratoire d'Hématologie Centre de Biologie Pathologie CHRU Lille France
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- Charles Herbaux
- U837 IRCL Lille France
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- Elisabeth Bertrand
- U837 IRCL Lille France
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- Bénédicte Hivert
- Service des Maladies du Sang Hôpital Huriez CHRU Lille France
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- Louis Terriou
- Service des Maladies du Sang Hôpital Huriez CHRU Lille France
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- Albert Verrier
- Service de Neurologie Centre hospitalier de Valenciennes Valenciennes France
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- Jean Paul Pollet
- Service d'Hématologie Clinique Centre Hospitalier de Valenciennes Valenciennes France
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- Claude Alain Maurage
- Service d'Anatomopathologie CHRU Lille France
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- Brigitte Onraed
- Service de Biochimie des Protéines CHRU Lille France
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- Franck Morschhauser
- Service des Maladies du Sang Hôpital Huriez CHRU Lille France
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- Bruno Quesnel
- U837 IRCL Lille France
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- Patrick Duthilleul
- Service d'Hématologie‐Immunologie –Cytogénétique Centre Hospitalier de Valenciennes Valenciennes France
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- Claude Preudhomme
- Laboratoire d'Hématologie Centre de Biologie Pathologie CHRU Lille France
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- Xavier Leleu
- U837 IRCL Lille France
抄録
<jats:title>Summary</jats:title><jats:p>Bing‐Neel syndrome (BNS), a rare neurological syndrome associated with Waldenström macroglobulinaemia (WM), is a direct involvement of the central nervous system by lymphoplasmacytoid cells characterized with an adverse prognostic. The <jats:italic>MYD88</jats:italic> L265P mutation has been identified in the vast majority of patients with WM. The diagnosis of BNS is often challenging because of the variety of clinical presentations associated with difficult histological techniques. We hypothesized that identification of <jats:italic>MYD88</jats:italic> L265P mutation in the cerebrospinal fluid (CSF) would contribute to the diagnosis of BNS in addition to imaging, flow cytometry and cytology. We identified <jats:italic>MYD88</jats:italic> L265P mutation in the CSF and the bone marrow of all cases of BNS using quantitative polymerase chain reaction q<jats:styled-content style="fixed-case">PCR</jats:styled-content> and Sanger sequencing. Copy neutral loss of heterozygosity including <jats:italic>MYD88</jats:italic> was observed in one case. No mutation of <jats:italic>CXCR4</jats:italic>,<jats:italic> CD79A</jats:italic> and <jats:italic>CD79B</jats:italic> was observed in parallel. We further showed that monitoring the quantitative expression of <jats:italic>MYD88</jats:italic> L265P mutation might be a useful molecular tool to monitor response to chemotherapy using q<jats:styled-content style="fixed-case">PCR</jats:styled-content>. In conclusion, identification of <jats:italic>MYD88</jats:italic> L265P mutation might be a new molecular‐based biomarker tool to add to the diagnostic and monitoring armamentarium for BNS.</jats:p>
収録刊行物
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- British Journal of Haematology
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British Journal of Haematology 167 (4), 506-513, 2014-08-27
Wiley
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キーワード
詳細情報 詳細情報について
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- CRID
- 1363388846068635520
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- ISSN
- 13652141
- 00071048
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- データソース種別
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- Crossref