[Molecular characterization of atypical chronic myeloid leukemia and chronic neutrophilic leukemia].
OBJECTIVE
Atypical chronic myeloid leukemia (aCML) and chronic neutrophilic leukemia (CNL) display similar clinical and hematological characteristics. The objective of the present study was to determine the mutational status of SETBP1 and CSF3R in these diseases.


METHODS
The mutational status of SETBP1 and CSF3R was studied in 7 patients with aCML (n = 3), CNL (n = 1) and unclassifiable myeloproliferative neoplasms (MPN-u) (n = 3). Additionally, mutations in ASXL1, SRSF2, IDH1/2, DNMT3A, and RUNX1 were also analyzed.


RESULTS
SETBP1 mutations (G870S and G872R) were detected in 2 patients with MPN-u, and one of them also presented mutations in SRSF2 (P95H) and ASXL1 (E635fs). The CNL case showed mutations in CSFR3 (T618I), SETBP1 (G870S) and SRSF2 (P95H). No patient classified as aCML had mutations in SETBP1 or CSF3R. One of the patients with mutations evolved to acute myeloid leukemia, while the other 2 had disease progression without transformation to overt leukemia.


CONCLUSIONS
The knowledge of the molecular alterations involved in these rare diseases is useful in the diagnosis and may have an impact on both prognosis and therapy.
Servicio de Hematología, Hospital del Mar-IMIM, Parc de Salut Mar, Universitat Autónoma de Barcelona, Barcelona, España.
Alicia
A
Senín
Laboratorio de Citología, Servicio de Anatomía Patológica, Hospital del Mar, Parc de Salut Mar, Barcelona, España.
Leonor
L
Arenillas
Laboratorio de Biología Molecular, Servicio de Anatomía Patológica, Hospital del Mar, Parc de Salut Mar, Barcelona, España.
Luz
L
Martínez-Avilés
Laboratorio de Biología Molecular, Servicio de Anatomía Patológica, Hospital del Mar, Parc de Salut Mar, Barcelona, España.
Concepción
C
Fernández-Rodríguez
Laboratorio de Biología Molecular, Servicio de Anatomía Patológica, Hospital del Mar, Parc de Salut Mar, Barcelona, España.
Beatriz
B
Bellosillo
Laboratorio de Citología, Servicio de Anatomía Patológica, Hospital del Mar, Parc de Salut Mar, Barcelona, España.
Lourdes
L
Florensa
Servicio de Hematología, Hospital del Mar-IMIM, Parc de Salut Mar, Universitat Autónoma de Barcelona, Barcelona, España.
Carles
C
Besses
Servicio de Hematología, Hospital del Mar-IMIM, Parc de Salut Mar, Universitat Autónoma de Barcelona, Barcelona, España. Electronic address: 95967@parcdesalutmar.cat.
Alberto
A
Álvarez-Larrán
D000368:Aged; D000369:Aged, 80 and over; D002352:Carrier Proteins / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics*; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics; D015467:Leukemia, Neutrophilic, Chronic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics; D009363:Neoplasm Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D011379:Prognosis; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics; D012261:Ribonucleoproteins / Q000235:genetics; D000068103:Serine-Arginine Splicing Factors
C473949:ASXL1 protein, human; C517047:CSF3R protein, human; D002352:Carrier Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004273:DNA, Neoplasm; D009363:Neoplasm Proteins; D009687:Nuclear Proteins; C493728:RUNX1 protein, human; D016184:Receptors, Colony-Stimulating Factor; D012097:Repressor Proteins; D012261:Ribonucleoproteins; C425066:SETBP1 protein, human; C073288:SRSF2 protein, human; D000068103:Serine-Arginine Splicing Factors
Atypical chronic myeloid leukemia; CSFR3; Chronic neutrophilic leukemia; Leucemia mieloide crónica atípica; Leucemia neutrofílica crónica; Myeloproliferative neoplasms; Neoplasias mieloproliferativas; SETBP1