caa a22 4500 463255976 CHVBK 20180405153355.0 cr unu---uuuuu 170326e20071201xx s 000 0 eng 10.1007/s00277-007-0357-8 doi (NATIONALLICENCE)springer-10.1007/s00277-007-0357-8 A multicenter analysis of the FIP1L1-αPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the αPDGFR exon 12 [Elektronische Daten] [Akiko Sada, Yoshio Katayama, Katsuya Yamamoto, Shin Okuyama, Hideshi Nakata, Hirotoshi Shimada, Kazuo Oshimi, Mayumi Mori, Toshimitsu Matsui] To study the clinical characteristics of hypereosionophilic syndrome and chronic eosinophilic leukemia (HES/CEL) in Japan, the clinical data of 29 HES/CEL patients throughout the country were surveyed. Moreover, the involvement of the FIP1L1-αPDGFR fusion gene resulting from a cryptic del (4)(q12q12) was examined in 24 cases. The FIP1L1-αPDGFR messenger RNA (mRNA) was detected in three patients (13% of patients fulfilled WHO criteria and 17% of Chusid criteria). One had a novel fusion transcript, which skipped the exon 12 of αPDGFR. The transcript appears to be generated by a splicing mechanism that is different from the previously reported splicing patterns. In silico analysis, the exon skipping was not related to a disruption of the exonic splicing enhancers within the exon but strongly associated with the loss of the vast majority of the FIP1L intron 8a where intronic splicing enhancers were accumulated. Unexpectedly, pseudo-chimera DNA fragments with some shared characteristic features were occasionally generated from healthy control samples by reverse transcriptase polymerase chain reaction (RT-PCR). Considering the relatively low incidence of the FIP1L1-αPDGFR transcript positive case, extreme care must therefore be taken when making a diagnosis using RT-PCR before imatinib therapy. Springer-Verlag, 2007 Hypereosionophilic syndrome nationallicence Imatinib nationallicence FIP1L1-αPDGFR nationallicence RT-PCR nationallicence Exon skipping nationallicence Alternative splicing nationallicence CEL nationallicence Sada Akiko Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut Katayama Yoshio Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut Yamamoto Katsuya Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut Okuyama Shin Department of Medicine, Akita University School of Medicine, Akita, Japan aut Nakata Hideshi Department of Medicine, Kochi Medical School, Kochi, Japan aut Shimada Hirotoshi Department of Medicine, Kyushu University School of Medicine, Fukuoka, Japan aut Oshimi Kazuo Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan aut Mori Mayumi Tama Hokubu Medical Center, Tokyo, Japan aut Matsui Toshimitsu Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut Annals of Hematology Springer-Verlag 86/12(2007-12-01), 855-863 0939-5555 86:12<855 2007 86 277 https://doi.org/10.1007/s00277-007-0357-8 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00277-007-0357-8 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Sada Akiko Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut NATIONALLICENCE 700 1- Katayama Yoshio Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut NATIONALLICENCE 700 1- Yamamoto Katsuya Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut NATIONALLICENCE 700 1- Okuyama Shin Department of Medicine, Akita University School of Medicine, Akita, Japan aut NATIONALLICENCE 700 1- Nakata Hideshi Department of Medicine, Kochi Medical School, Kochi, Japan aut NATIONALLICENCE 700 1- Shimada Hirotoshi Department of Medicine, Kyushu University School of Medicine, Fukuoka, Japan aut NATIONALLICENCE 700 1- Oshimi Kazuo Hematology, Department of Medicine, Juntendo University School of Medicine, Tokyo, Japan aut NATIONALLICENCE 700 1- Mori Mayumi Tama Hokubu Medical Center, Tokyo, Japan aut NATIONALLICENCE 700 1- Matsui Toshimitsu Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, 650-0017, Kobe, Japan aut NATIONALLICENCE 773 0- Annals of Hematology Springer-Verlag 86/12(2007-12-01), 855-863 0939-5555 86:12<855 2007 86 277 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer