A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12.

A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Research Abstract Details 

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A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Abstract Text:

Akiko Sada,Yoshio Katayama,Katsuya Yamamoto,Shin Okuyama,Hideshi Nakata,Hirotoshi Shimada,Kazuo Oshimi,Mayumi Mori,Toshimitsu Matsui, ,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-alphaPDGFR fusion gene resulting from a cryptic del (4)(q12q12) was examined in 24 cases. The FIP1L1-alphaPDGFR 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 alphaPDGFR. 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-alphaPDGFR transcript positive case, extreme care must therefore be taken when making a diagnosis using RT-PCR before imatinib therapy.

A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Publishing Authors By Initials

A Sada,Y Katayama,K Yamamoto,S Okuyama,H Nakata,H Shimada,K Oshimi,M Mori,T Matsui, ,A Sada,Y Katayama,K Yamamoto,S Okuyama,H Nakata,H Shimada,K Oshimi,M Mori,T Matsui, ,

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A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Annals of hematology

VOLUME: 86

Page Numbers: 855-63

Journal Abbreviation: Ann. Hematol.

ISSN: 0939-5555

DAY: 15

MONTH: 08

YEAR: 2007

A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Information

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LANGUAGE: eng

NlmUniqueID: 9107334

A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12. Keywords Mesh Terms:

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Grant and Affiliation Information for A multicenter analysis of the FIP1L1-alphaPDGFR fusion gene in Japanese idiopathic hypereosinophilic syndrome: an aberrant splicing skipping the alphaPDGFR exon 12.

AFFILIATION: Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1, Kusunoki-cho, Chuo-ku, Kobe, 650-0017, Japan, matsui@med.kobe-u.ac.jp.

Country: Germany

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MEDLINETA: Ann Hematol

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