Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia.
- Resource Type
- Article
- Authors
- Calvo, Charlotte; Lainey, Elodie; Caye, Aurélie; Cuccuini, Wendy; Fenneteau, Odile; Yakouben, Karima; Bellanné‐Chantelot, Christine; Baruchel, André; Dalle, Jean‐Hugues; Leblanc, Thierry
- Source
- British Journal of Haematology. Sep2022, Vol. 198 Issue 6, p1069-1072. 4p.
- Subject
- *EXOCRINE pancreatic insufficiency
*NEUTROPENIA
*CORD blood transplantation
*HEMATOPOIETIC stem cell transplantation
*SOMATIC mutation
- Language
- ISSN
- 0007-1048
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]