Transformation to acute myeloid leukemia (AML) is a known complication of myeloproliferative neoplasia (MPN). Recent studies reported the high incidence (53%) of JAK2 negative blasts from transformed JAK2V617F-MPN. We collected, by cell sorting, blast cells, and mature cells (GRA) from total bone marrow (BM) of 34 patients newly diagnosed of secondary AML. At MPN diagnosis (PMF n 5 18; PV n 5 9; ET n 5 7), JAK2 was mutated in 22 of 34 patients. Twenty of 22 JAK2V617F-MPN (91%) maintained the mutation in blasts and GRA after leukemic switch, while in 2 of 22 patients the selected compartments lost the mutation. Surprisingly, we also found the first case of JAK2V617F-AML from a wild type (WT)-MPN. In contrast to the previous study, we conclude that JAK2V617F-MPN yields rarely (9%) a JAK2WT-AML and any JAK2-status modification/persistence involves always the entire BM during leukemic transformation.

JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study / Rinaldi, Cr; Rinaldi, P; Gemei, M; Grimaldi, F; Battipaglia, G; Del Vecchio, L; Martino, B; Specchia, G; Candoni, A; Gugliotta, L; Vannucchi, Am; Barbui, T; Pane, Fabrizio. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - STAMPA. - 85:(2010), pp. 383-386. [10.1002/ajh.21687]

JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study.

Grimaldi F;Battipaglia G;PANE, FABRIZIO
2010

Abstract

Transformation to acute myeloid leukemia (AML) is a known complication of myeloproliferative neoplasia (MPN). Recent studies reported the high incidence (53%) of JAK2 negative blasts from transformed JAK2V617F-MPN. We collected, by cell sorting, blast cells, and mature cells (GRA) from total bone marrow (BM) of 34 patients newly diagnosed of secondary AML. At MPN diagnosis (PMF n 5 18; PV n 5 9; ET n 5 7), JAK2 was mutated in 22 of 34 patients. Twenty of 22 JAK2V617F-MPN (91%) maintained the mutation in blasts and GRA after leukemic switch, while in 2 of 22 patients the selected compartments lost the mutation. Surprisingly, we also found the first case of JAK2V617F-AML from a wild type (WT)-MPN. In contrast to the previous study, we conclude that JAK2V617F-MPN yields rarely (9%) a JAK2WT-AML and any JAK2-status modification/persistence involves always the entire BM during leukemic transformation.
2010
JAK2V617F mutation persists in blasts and mature cells of transformed JAK2V617F-positive-myeloproliferative neoplasia: a European Leukemia Net (ENL) study / Rinaldi, Cr; Rinaldi, P; Gemei, M; Grimaldi, F; Battipaglia, G; Del Vecchio, L; Martino, B; Specchia, G; Candoni, A; Gugliotta, L; Vannucchi, Am; Barbui, T; Pane, Fabrizio. - In: AMERICAN JOURNAL OF HEMATOLOGY. - ISSN 0361-8609. - STAMPA. - 85:(2010), pp. 383-386. [10.1002/ajh.21687]
File in questo prodotto:
File Dimensione Formato  
JAK2V617F mutation, 2010.pdf

non disponibili

Tipologia: Documento in Post-print
Licenza: Accesso privato/ristretto
Dimensione 1.24 MB
Formato Adobe PDF
1.24 MB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/574353
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 2
  • ???jsp.display-item.citation.isi??? 2
social impact