An acquired CSF3R mutation in an adult chronic idiopathic neutropenia patient who developed acute myeloid leukaemia

British Journal of Haematology

Volumn 157, Issue 2, 2012, Pages 264-266

  Ikewaki, Junji ^a   Kawano, Rie ^a,b   Sato, Takako ^a   Imamura, Tomoyuki ^c   Kohno, Kazuhiro ^a   Ogata, Masao ^a   Ohtsuka, Eiichi ^d   Kadota, Jun Ichi ^a  

^a OITA UNIVERSITY   (Japan)

^b KUMAMOTO UNIVERSITY   (Japan)

^c Division of Haematology   (Japan)

^d OITA PREFECTURAL HOSPITAL   (Japan)

Author keywords

Acute myeloid leukaemia; Chronic idiopathic neutropenia; CSF3R; Mutation; Severe congenial neutropenia

Indexed keywords

CD19 ANTIGEN; CD33 ANTIGEN; CD34 ANTIGEN; CD7 ANTIGEN; COMPLEMENTARY DNA; MICROSOMAL AMINOPEPTIDASE; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ALLOGENEIC STEM CELL TRANSPLANTATION; AMINO ACID SUBSTITUTION; ANTIGEN DETECTION; BONE MARROW BIOPSY; CASE REPORT; CHROMOSOME ANALYSIS; CHRONIC IDIOPATHIC NEUTROPENIA; CSF3R GENE; CYTOPLASM; DEATH; FLOW CYTOMETRY; GENETIC ASSOCIATION; HLA MATCHING; HUMAN; HUMAN TISSUE; IDIOPATHIC PULMONARY SYNDROME; LETTER; LEUKEMOGENESIS; LUNG DISEASE; MALE; MOLECULAR PATHOLOGY; MYELODYSPLASTIC SYNDROME; NEUTROPENIA; NEUTROPHIL COUNT; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ADULT; CHRONIC DISEASE; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; NEUTROPENIA; RECEPTORS, COLONY-STIMULATING FACTOR;

EID: 84859217604     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08968.x     Document Type: Letter

References (9)

1. Carapeti, M., Soeda-Bobok, A., Hochhaus, A., Sill, H., Touw, I.P., Goldman, J.M. & Cross, N.C.P. (1997) Rarity of dominant-negative mutations of the G-CSF receptor in patients with blast crisis of chronic myeloid leukemia or de novo acute leukemia. Leukemia, 11, 1005-1008.
2. Dale, D.C., Cottle, T.E., Fier, C.J., Bolyard, A.A., Bonilla, M.A., Bover, L.A., Cham, B., Freedman, M.H., Kannourakis, G., Kinsey, S.E., Davis, R., Scarlata, D., Schwinzer, B., Zeidler, C. & Welte, K. (2003) Severe chronic neutropenia: treatment and follow-up of patients in the severe chronic neutropenia international registry. American Journal of Hematology, 72, 82-93.
3. Forbes, L.V., Gale, R.E., Pizzey, A., Pouwels, K., Nathwani, A. & Linch, D.C. (2002) An activating mutation in the transmembrane domain of the granulocyte colony-stimulating factor in patients with acute myeloid leukemia. Oncogene, 21, 5981-5989.
4. Germeshausen, M., Ballmaier, M. & Welte, K. (2007) Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: results of a long-term survey. Blood, 109, 93-99.
5. Hunter, M.G. & Avalos, B.R. (2000) Granulocyte colony-stimulating factor receptor mutations in severe congenial neutropenia transforming to acute myelogenous leukemia confers resistance to apoptosis and enhance cell survival. Blood, 95, 2132-2137.
6. Link, D.C., Kunter, G., Kasai, Y., Zhao, Y., Miner, T., McLellan, M.D., Ries, R.E., Kapur, D., Nagarajan, R., Dale, D.C., Bolyard, A.A., Boxer, L.A., Welte, K., Zeidler, C., Donadieu, J., Bellanne-Chantelot, C., Vardiman, J.W., Caligiuri, M.A., Bloomfield, C.D., DiPersio, J.F., Tomasson, M.H., Graubert, T.A., Wastervelt, P., Watson, M., Shannon, W., Baty, J., Mardis, E.R., Wilson, R.K. & Ley, T.J. (2007) Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood, 110, 1648-1655.
7. Papadaki, H.A., Palmblad, J. & Eliopoulos, G.D. (2001) Non-immune chronic idiopathic neutropenia of adult: an overview. European Journal of Haematology, 67, 35-44.
8. Papadaki, H.A., Kosteas, T., Gemetzi, C., Alexandrakis, M., Psyllaki, M. & Eliopoulos, G.D. (2002) Two patients with nonimmune chronic idiopathic neutropenia of adults developing acute myeloid leukemia with aberrant phenotype and complex karyotype but no mutations in granulocyte colony-stimulating factor receptor. Annals of Hematology, 81, 50-54.
9. Papadaki, H.A., Kosteas, T., Gemetzi, C., Damianaka, A., Anagnou, N.P. & Eliopoulos, G.D. (2004) Acute myeloid/NK precursor cell leukemia with trisomy 4 and a novel point mutation in the extracellular domain of the G-CSF receptor in a patient with chronic idiopathic neutropenia. Annals of Hematology, 83, 345-348.