PMID- 17879017 OWN - NLM STAT- MEDLINE DCOM- 20071130 LR - 20121115 IS - 0723-5003 (Print) IS - 0723-5003 (Linking) VI - 102 IP - 9 DP - 2007 Sep 15 TI - [Diagnostic algorithm in chronic myeloproliferative diseases (CMPD)]. PG - 770-7 AB - The Philadelphia-negative chronic myeloproliferative diseases (CMPD) are very complex and heterogeneous disorders. They are represented by polycythemia vera (PV), chronic idiopathic myelofibrosis (CIMF), essential thrombocythemia (ET), CMPD/unclassifiable (CMPD-U), chronic neutrophilic leukemia (CNL), and chronic eosinophilic leukemia/hypereosinophilic syndrome (CEL/HES) according to the WHO classification. Before, diagnostics were mainly focused on clinical and morphological aspects, but in recent years cytogenetics and fluorescence in situ hybridization (FISH) found entrance in routine schedules as chromosomal abnormalities are relevant for prognosis and classification. Recently, there is rapid progress in the field of molecular characterization: the JAK2V617F mutation which shows a high incidence in PV, CIMF, and ET already plays a central role and will probably soon be included in follow-up procedures. Due to the detection of mutations in exon 12 of the JAK2 gene or mutations in the MPL gene the variety of activating mutations in the CMPD is still increasing. In CEL/HES the detection of the FIP1L1-PDGFRA fusion gene and overexpression of PDGFRA and PDGFRB led to targeted therapy with tyrosine kinase inhibitors. Thus, diagnostics in the CMPD transform toward a multimodal diagnostic concept based on a combination of methods - cyto-/histomorphology, cytogenetics, and individual molecular methods which can be included in a diagnostic algorithm. FAU - Haferlach, Torsten AU - Haferlach T AD - MLL Munchner Leukamielabor GmbH, Munchen. torsen.haferlach@mll-online.com FAU - Bacher, Ulrike AU - Bacher U FAU - Kern, Wolfgang AU - Kern W FAU - Schnittger, Susanne AU - Schnittger S FAU - Haferlach, Claudia AU - Haferlach C LA - ger PT - English Abstract PT - Journal Article PT - Review TT - Neue Erkenntnisse in der Diagnostik chronischer myeloproliferativer Syndrome: Die therapeutische Relevanz steigt. PL - Germany TA - Med Klin (Munich) JT - Medizinische Klinik (Munich, Germany : 1983) JID - 8303501 RN - 0 (Receptors, Thrombopoietin) RN - 143641-95-6 (MPL protein, human) RN - EC 2.7.10.2 (JAK2 protein, human) RN - EC 2.7.10.2 (Janus Kinase 2) SB - IM MH - *Algorithms MH - Chromosome Aberrations MH - Chronic Disease MH - Cytogenetic Analysis MH - DNA Mutational Analysis MH - Diagnosis, Differential MH - Gene Expression/physiology MH - Humans MH - Janus Kinase 2/genetics MH - Myeloproliferative Disorders/classification/*diagnosis/genetics MH - Receptors, Thrombopoietin/genetics MH - World Health Organization RF - 61 EDAT- 2007/09/20 09:00 MHDA- 2007/12/06 09:00 CRDT- 2007/09/20 09:00 PHST- 2006/11/15 00:00 [received] PHST- 2007/06/11 00:00 [accepted] PHST- 2007/09/20 09:00 [pubmed] PHST- 2007/12/06 09:00 [medline] PHST- 2007/09/20 09:00 [entrez] AID - 10.1007/s00063-007-1094-4 [doi] PST - ppublish SO - Med Klin (Munich). 2007 Sep 15;102(9):770-7. doi: 10.1007/s00063-007-1094-4.