Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation

Leukemia

Volumn 22, Issue 9, 2008, Pages 1797-

  Yetgin, S ^a   Olcay, L ^b   Koc A ^c   Germeshausen, M ^d  

^a HACETTEPE UNIVERSITY   (Turkey)

^b Oncology State Hospital   (Turkey)

^c HARRAN UNIVERSITY   (Turkey)

^d HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GRANULOCYTE COLONY STIMULATING FACTOR;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; BACTERIAL INFECTION; BONE MARROW BIOPSY; CASE REPORT; CAUSE OF DEATH; DISEASE COURSE; FEMALE; FLOW CYTOMETRY; GENE MUTATION; HUMAN; INFANT; LEUKOCYTE COUNT; LEUKOCYTE DIFFERENTIAL COUNT; MALIGNANT TRANSFORMATION; NEUTROPENIA; ONSET AGE; PRIORITY JOURNAL; SEPTICEMIA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CELL TRANSFORMATION, NEOPLASTIC; FATAL OUTCOME; FEMALE; HUMANS; INFANT; MUTATION; NEUTROPENIA; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; PROTEINS; RECEPTORS, GRANULOCYTE COLONY-STIMULATING FACTOR; SEPSIS;

EID: 51649109108     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2008.64     Document Type: Article

References (5)

1. Yetgin S, Germeshausen M, Touw I, Koç A, Olcay L. Acute lymphoblastic leukemia in a patient with congenital neutropenia without G-CSF-R and ELA2 mutations. Leukemia 2005; 19: 1710-1711.
2. Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Result of a long-term survey. Blood 2007; 109: 93-99.
3. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA et al. Hax1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39 86-92.
4. Cassinat B, Bellanne-Chantelot C, NotzCarrere A, Menot ML, Vaury C, Micheau M et al. Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the France neutropenia register. Leukemia 2004; 18: 1553-1555.
5. Germeshausen M, Ballmaier M, Schulze H, Welte K, Flohr T, Beiske K et al. Granulocyte colony-stimulating factor receptor mutations in a patient with acute lymphoblastic leukemia secondary to severe congenital neutropenia. Blood 2001; 97: 829-831.