title: Clinical characteristics of patients with chronic eosinophilic leukaemia (CEL) harbouring FIP1L1-PDGFRA fusion transcript--results of Polish multicentre study.
abstract: A small subgroup of patients with hypereosinophilic syndrome (HES) demonstrates imatinib-sensitive fusion transcript-the FIP1L1-PDGFRA (F/P+). These cases are currently diagnosed as chronic eosinophilic leukaemia (CEL). In this paper, we screened 77 patients to estimate the frequency of FIP1L1-PDGFRA transcript among patients with unexplained, long-term hypereosinophilia exceeding 1.5 x 10(9)/L and to analyse the clinical and serological features in F/P+ CEL population. The FIP1L1-PDGFRA chimeric protein was detectable in 16 (14 males and 2 females) out of 77 examined HES patients (20%) by RT-PCR. Two patients suffered from cough at diagnosis. Three out of 16 (18%) patients had no organ involvements, in 5-one organ was affected and in the remaining eight cases-at least two. Eosinophilic organ damage/dysfunction identified splenomegaly in the majority of studied patients. We compared clinical and serological features between CEL F/P+ (n = 16) and HES (n = 61) patients. F/P+ cases had significantly increased WBC and absolute eosinophil count (AEC) at diagnosis (p = 0.008 and 0.02), whereas platelet count was decreased in this population (p = 0.03). Serum B12 and tryptase levels were increased (p = 0.002 and 0.004) in CEL F/P+ patients when compared to HES cases whereas serum IL-5 levels were significantly increased in the latter group (p = 0.01). Male gender and splenomegaly occurred more frequent in CEL F/P+ population (p = 0.002 and 0.0007, respectively). Additionally, patients with F/P+ CEL (n = 16) were compared with F/P- CEL (n = 8). The latter group, was significantly older, had lower AEC and higher platelet count. In conclusion, significant clinical symptoms are infrequent present and splenomegaly remains the most common organ involvement in patients with CEL expressing F/P fusion transcript. Our study confirmed the long-term remission on imatinib in this patient population.
authors.affiliation: Departament of Haematology and Bone Marrow Transplantation, Silesian Medical University, Katowice, Poland. ghelbig@o2.pl
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Helbig
authors.forename: Andrzej
authors.initials: A
authors.lastname: Moskwa
authors.forename: Marek
authors.initials: M
authors.lastname: Hus
authors.forename: Jarosław
authors.initials: J
authors.lastname: Piszcz
authors.forename: Alina
authors.initials: A
authors.lastname: Swiderska
authors.forename: Alina
authors.initials: A
authors.lastname: Urbanowicz
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Całbecka
authors.forename: Justyna
authors.initials: J
authors.lastname: Gajkowska
authors.forename: Ilona
authors.initials: I
authors.lastname: Seferyńska
authors.forename: Magdalena
authors.initials: M
authors.lastname: Hałasz
authors.forename: Dariusz
authors.initials: D
authors.lastname: Woszczyk
authors.forename: Miroslaw
authors.initials: M
authors.lastname: Markiewicz
authors.forename: Sławomira
authors.initials: S
authors.lastname: Krzemień
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D001549:Benzamides; D003371:Cough / Q000209:etiology; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D017681:Hypereosinophilic Syndrome / Q000097:blood / Q000150:complications / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D000068877:Imatinib Mesylate; D033162:Incidental Findings; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use; D010976:Platelet Count; D011044:Poland / Q000453:epidemiology; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use; D011743:Pyrimidines / Q000627:therapeutic use; D012333:RNA, Messenger / Q000235:genetics; D012334:RNA, Neoplasm / Q000235:genetics; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D013163:Splenomegaly / Q000209:etiology; D055815:Young Adult; D039221:mRNA Cleavage and Polyadenylation Factors / Q000235:genetics*
chemical_list: D001549:Benzamides; D015514:Oncogene Proteins, Fusion; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D012333:RNA, Messenger; D012334:RNA, Neoplasm; D039221:mRNA Cleavage and Polyadenylation Factors; D000068877:Imatinib Mesylate; C479819:FIP1L1-PDGFRA fusion protein, human; D020796:Receptor, Platelet-Derived Growth Factor alpha