Chronic neutrophil leukemia

from Wikipedia, the free encyclopedia
Classification according to ICD-10
C92.7 Other myeloid leukemia
ICD-O 9963/3
ICD-10 online (WHO version 2019)

The chronic neutrophilic leukemia (CNL) is a very rare disease of the hematopoietic system and becomes the myeloproliferative neoplasms (in the sense of the WHO counted -Classification 2008).

Epidemiology

The disease is very rare and its exact incidence is unknown (fewer than 100 cases have been reported in the literature). Men and women seem to be affected roughly equally. The disease usually occurs in older adults.

Clinical features

CNL is characterized by an increase in neutrophil granulocytes in the blood and bone marrow . There is an enlarged liver and spleen (hepatosplenomegaly).

Immunophenotype and Genetics

CNL does not show any specific features immunocytologically . Cytogenetically , the karyotype is usually normal . In 2013, several scientific papers were published in which somatic (i.e. acquired, not inherited) mutations in the CSF3R gene ( colony stimulating factor 3 receptor ) on chromosome 1 were reported in patients with CNL . These mutations appear to be found with high prevalence and specificity in CNL, making them useful as diagnostic markers. In some of the cases, there are accompanying mutations in the SETBP1 gene .

Diagnostic criteria

The diagnosis can be made based on the presence of certain criteria:

  • hypercellular bone marrow:
  • Multiplication of the neutrophil granulocytes
  • <5% myeloblasts
  • no maturation disorders in the neutrophils
  • Hepatosplenomegaly
  • no other reason for neutrophils to multiply:
  • not a chronic infection or inflammatory disease
  • no underlying tumor disease

The criteria make it clear that the diagnosis of CNL is usually made as a diagnosis of exclusion . I.e. first other, much more common diseases must be ruled out before a diagnosis of CNL can be made. The main differences to CML are: 1. no evidence of BCR-ABL or Philadelphia chromosome, 2. predominantly only reproduction of the mature neutrophils, hardly any of the immature precursors.

therapy

Due to the rarity of the disease, there are no therapeutic studies. The condition can be treated with mild cytoreductive drugs such as hydroxyurea . A therapy attempt with interferon alpha is also possible. If there is a CSF3R mutation, therapy with dasatinib or ruxolitinib should be attempted .

literature

  • E. Jaffe, NL Harris, H. Stein , JW Vardiman (Eds.): Pathology and Genetics of Tumors of Haemopoietic and Lymphoid Tissues . IARC Press, Lyon 2001.
  • SH Swerdlow, E. Campo, NL Harris, ES Jaffe, SA Pileri, H. Stein, J. Thiele, JW Vardiman (Eds.): WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues, Fourth Edition . IARC Press, Lyon 2008, ISBN 978-92-832-2431-0 .

Individual evidence

  1. ↑ a b JE Maxson, J. Gotlib, DA Pollyea, AG Fleischman, A. Agarwal, CA Eide, D. Bottomly, B. Wilmot, SK McWeeney, CE Tognon, JB Pond, RH Collins, B. Goueli, ST Oh, MW Deininger, BH Chang, MM Loriaux, BJ Druker, JW Tyner: Oncogenic CSF3R mutations in chronic neutrophilic leukemia and atypical CML. In: N Engl J Med. 2013; 368 (19), pp. 1781-1790. doi: 10.1056 / NEJMoa1214514 PMID 23656643
  2. ↑ A. Pardanani, TL Lasho, RR Laborde, M. Elliott, CA Hanson, RA Knudson, RP Ketterling, JE Maxson, JW Tyner, A. Tefferi: CSF3R T618I is a highly prevalent and specific mutation in chronic neutrophilic leukemia. In: Leukemia. 2013; 27 (9), pp. 1870–1873. doi: 10.1038 / leu.2013.122 PMID 23604229
  3. ^ A b J. Gotlib, JE Maxson, TI George, JW Tyner: The new genetics of chronic neutrophilic leukemia and atypical CML: implications for diagnosis and treatment. In: Blood. 2013; 122 (10), pp. 1707-1711. doi: 10.1182 / blood-2013-05-500959