Page 241 - Haematologica Atlas of Hematologic Cytology

CHAPTER 29 - Neutropenia and agranulocytosis
hyperplasia of the granulocytic series and reduced or absent late neutrophils In congenital neutropenias spe- cific bone marrow morphological features suggest particular gene mutations Myelokathexis (i e e e e e e e e e accumulation of hypersegmented neutrophils with chromatin hypercondensation and long filaments between nuclear lobes) is
associated with with CXCR2 or CXCR4 mutation whereas hyposegmented neutrophils with with condensed chromatin are found in Shwachman-Diamond syndrome Congenital neutropenias are at high risk of developing myelodysplastic syndrome or acute myeloid leukemia which is
is
preceded by clonal somatic evolution The leukemic transformation rate is
is
60% in patients with GATA2 mutations mutations mutations 30% in in those with with SBDS mutations mutations mutations and 15% in in patients with with ELANE mutations mutations mutations (Donadieu et al 2017) References
Bartels M M M Murphy K Rieter E Bruin M M M nderstanding chronic neutropenia: life is
short Br Br J Haematol 2016 172(2):157- 169 Donadieu J Beaupain B B B Fenneteau O Bellann -Chantelot C C C Congenital neutropenia in in the era of genomics: classi ca- on diagnosis and natural history Br J Haematol 2017 179(4):557-574 228