Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive
Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecu...
Saved in:
| Main Authors: | , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
|
| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2012/517546 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850235782517751808 |
|---|---|
| author | Magalie Joris Sophie Georgin-Lavialle Marie-Olivia Chandesris Ludovic Lhermitte Jean-François Claisse Danielle Canioni Katia Hanssens Gandhi Damaj Olivier Hermine Mohammed Hamidou |
| author_facet | Magalie Joris Sophie Georgin-Lavialle Marie-Olivia Chandesris Ludovic Lhermitte Jean-François Claisse Danielle Canioni Katia Hanssens Gandhi Damaj Olivier Hermine Mohammed Hamidou |
| author_sort | Magalie Joris |
| collection | DOAJ |
| description | Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient’s case with rare phenotypic and genotypic characteristics is described with review of major clinical biological and therapeutic approaches in MCL. |
| format | Article |
| id | doaj-art-123032b0bdf941efa52bd76f95a437d9 |
| institution | OA Journals |
| issn | 2090-6560 2090-6579 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-123032b0bdf941efa52bd76f95a437d92025-08-20T02:02:09ZengWileyCase Reports in Hematology2090-65602090-65792012-01-01201210.1155/2012/517546517546Mast Cell Leukaemia: c-KIT Mutations Are Not Always PositiveMagalie Joris0Sophie Georgin-Lavialle1Marie-Olivia Chandesris2Ludovic Lhermitte3Jean-François Claisse4Danielle Canioni5Katia Hanssens6Gandhi Damaj7Olivier Hermine8Mohammed Hamidou9Service d'Hématologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, FranceService de Médecine Interne, Hôpital Européen Georges Pompidou, Université Paris Descartes, Paris Sorbonne Cité, Assistance Publique-Hôpitaux de Paris, 20 Rue Leblanc, 75015, FranceCentre de Référence des Mastocytoses, Faculté de Médecine et AP-HP Necker-Enfants Malades, 156 Rue de Vaugirard, 75743 Paris Cedex 15, FranceLaboratoire d'Hématologie Biologique et UMR CNRS 8147, Université Paris Descartes, Paris Sorbonne Cité, Faculté de Médecine et AP-HP Necker-Enfants Malades, 161 Rue des Sèvres, 75743 Paris Cedex 15, FranceLaboratoire de Biologie et de Cytologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, FranceService d'Anatomie-Pathologie, Necker-Enfants Malades, 149 Rue des Sèvres, 75743 Paris Cedex 15, FranceINSERM UMR 891, Centre de Recherche en Cancérologie de Marseille, Laboratoire d'Hématopoïèse Moléculaire et Fonctionnelle, 13009 Marseille, FranceService d'Hématologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, FranceCentre de Référence des Mastocytoses, Faculté de Médecine et AP-HP Necker-Enfants Malades, 156 Rue de Vaugirard, 75743 Paris Cedex 15, FranceService de Médecine Interne, Centre Hospitalier Universitaire, 44000 Nantes, FranceMast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient’s case with rare phenotypic and genotypic characteristics is described with review of major clinical biological and therapeutic approaches in MCL.http://dx.doi.org/10.1155/2012/517546 |
| spellingShingle | Magalie Joris Sophie Georgin-Lavialle Marie-Olivia Chandesris Ludovic Lhermitte Jean-François Claisse Danielle Canioni Katia Hanssens Gandhi Damaj Olivier Hermine Mohammed Hamidou Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive Case Reports in Hematology |
| title | Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive |
| title_full | Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive |
| title_fullStr | Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive |
| title_full_unstemmed | Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive |
| title_short | Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive |
| title_sort | mast cell leukaemia c kit mutations are not always positive |
| url | http://dx.doi.org/10.1155/2012/517546 |
| work_keys_str_mv | AT magaliejoris mastcellleukaemiackitmutationsarenotalwayspositive AT sophiegeorginlavialle mastcellleukaemiackitmutationsarenotalwayspositive AT marieoliviachandesris mastcellleukaemiackitmutationsarenotalwayspositive AT ludoviclhermitte mastcellleukaemiackitmutationsarenotalwayspositive AT jeanfrancoisclaisse mastcellleukaemiackitmutationsarenotalwayspositive AT daniellecanioni mastcellleukaemiackitmutationsarenotalwayspositive AT katiahanssens mastcellleukaemiackitmutationsarenotalwayspositive AT gandhidamaj mastcellleukaemiackitmutationsarenotalwayspositive AT olivierhermine mastcellleukaemiackitmutationsarenotalwayspositive AT mohammedhamidou mastcellleukaemiackitmutationsarenotalwayspositive |