title: Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever.
abstract: We report on a familial Mediterranean fever (FMF) patient homozygous for p.M694V in the MEFV gene who developed chronic myelomonocytic leukemia (CMML) leading to an uncontrolled and fatal inflammatory syndrome. Plasma levels of IL-6 and IL-18 were found to be very high, as compared to healthy controls and CMML-free FMF patients.Our study unveils the interplay between two different disorders involving the same target cells, suggesting that in myelodysplasia with inflammatory manifestations, mutations in genes causing autoinflammatory syndromes, like MEFV, can be present and thus could be sought. Early chemotherapy with interleukin inhibitors could be proposed in such unusual situations.
authors.affiliation: Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hôpital Armand-Trousseau, Paris, F-75012, France. fawaz.awad@inserm.fr.
authors.forename: Fawaz
authors.initials: F
authors.lastname: Awad
authors.affiliation: Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hôpital Armand-Trousseau, Paris, F-75012, France. s.georgin.lavialle@gmail.com.|Centre de référence de la fièvre méditerranéenne familiale, DHU I2B, Service de médecine interne, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. s.georgin.lavialle@gmail.com.
authors.forename: Sophie
authors.initials: S
authors.lastname: Georgin-Lavialle
authors.affiliation: Service d'Hématologie clinique, AP-HP, Hôpital Necker, Université Paris Descartes - Sorbonne Paris Cité, Imagine Institute, INSERM UMR 1163 et CNRS ERL 8254, Paris, France. anne.brignier@nck.aphp.fr.
authors.forename: Anne
authors.initials: A
authors.lastname: Brignier
authors.affiliation: Laboratoire d'hématologie biologique, Hôpital Necker, 149 rue de Sèvres, 75015, Paris, France. coralie.derrieux@nck.aphp.fr.
authors.forename: Coralie
authors.initials: C
authors.lastname: Derrieux
authors.affiliation: Service d'Hématologie clinique, AP-HP, Hôpital Necker, Université Paris Descartes - Sorbonne Paris Cité, Imagine Institute, INSERM UMR 1163 et CNRS ERL 8254, Paris, France. achille.aouba@gmail.com.
authors.forename: Achille
authors.initials: A
authors.lastname: Aouba
authors.affiliation: Centre de référence de la fièvre méditerranéenne familiale, DHU I2B, Service de médecine interne, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. katia.stankovic@tnn.aphp.fr.
authors.forename: Katia
authors.initials: K
authors.lastname: Stankovic-Stojanovic
authors.affiliation: Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hôpital Armand-Trousseau, Paris, F-75012, France. gilles.grateau@tnn.aphp.fr.|Centre de référence de la fièvre méditerranéenne familiale, DHU I2B, Service de médecine interne, Hôpital Tenon, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France. gilles.grateau@tnn.aphp.fr.
authors.forename: Gilles
authors.initials: G
authors.lastname: Grateau
authors.affiliation: Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hôpital Armand-Trousseau, Paris, F-75012, France. serge.amselem@inserm.fr.|Service de Génétique, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Trousseau, F-75012, Paris, France. serge.amselem@inserm.fr.
authors.forename: Serge
authors.initials: S
authors.lastname: Amselem
authors.affiliation: Service d'Hématologie clinique, AP-HP, Hôpital Necker, Université Paris Descartes - Sorbonne Paris Cité, Imagine Institute, INSERM UMR 1163 et CNRS ERL 8254, Paris, France. ohermine@gmail.com.
authors.forename: Olivier
authors.initials: O
authors.lastname: Hermine
authors.affiliation: Sorbonne Universités, UPMC University Paris 06, INSERM UMR_S933, Hôpital Armand-Trousseau, Paris, F-75012, France. sonia.karabina@trs.aphp.fr.
authors.forename: Sonia-Athina
authors.initials: SA
authors.lastname: Karabina
mesh_terms: D000369:Aged, 80 and over; D003598:Cytoskeletal Proteins / Q000235:genetics; D010505:Familial Mediterranean Fever / Q000097:blood / Q000276:immunology*; D006801:Humans; D007249:Inflammation / Q000097:blood / Q000209:etiology* / Q000276:immunology*; D020382:Interleukin-18 / Q000097:blood; D015850:Interleukin-6 / Q000097:blood; D015477:Leukemia, Myelomonocytic, Chronic / Q000097:blood / Q000150:complications* / Q000276:immunology*; D008297:Male; D009154:Mutation; D000071198:Pyrin
chemical_list: D003598:Cytoskeletal Proteins; D020382:Interleukin-18; D015850:Interleukin-6; C000604192:MEFV protein, human; D000071198:Pyrin