Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia.

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. In 2018, Bellanné-Chantelot et al. first reported patients with I SRP54 i mutations presenting with severe congenital neutropenia (SCN) and extra-haematopoietic organ dysfunctions close to Shwachman-Diamond syndrome (SDS) phenotypes.1,2 I SRP54 i mutations have been shown as the second most common cause of SCN in the French neutropenia registry.2 Our female patient was diagnosed with SCN at the age of five weeks: full blood cell counts showed profound neutropenia at 100 cells/ l with relative monocytosis at 1400 cells/ l. Systematic screening for immune deficiency and anti-neutrophil autoantibodies was negative. Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe congenital neutropenia. [Extracted from the article]