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TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia

Leukemia volume 20, pages 1623–1624 (2006)Cite this article

Using metaphase fluorescence in situ hybridization (FISH) to narrow translocation breakpoints and polymerase chain reaction (PCR) to identify genes, we detected the TPM3 gene at 1q21 as a new PDGFRB partner in chronic eosinophilic leukemia (CEL). CEL is defined by a persistent eosinophil count ⩾1.5 × 109/l with no known underlying causes, organ involvement, evidence of eosinophil clonality or increased blasts. In 30–40% of patients with male predominance and high incidence of hepatomegaly and splenomegaly, CEL is associated with del(4)(q12)/FIP1L1-PDGFRA genomic change. Rare cases show 5q31–q33 rearrangements, in a few of which PDGFRB is involved.1 Interestingly, a t(1;5)(q21;q33) disrupting PDGFRB has been reported in one case classified as atypical chronic myeloid leukemia (aCML)/CEL.2

In 1991, a 21-year-old man with CEL showed a 46,XY,t(1;5)(q21;q33) karyotype in 28/29 metaphases.3 Under α-interferon treatment, which was administered for 10 years, the patient obtained a major cytogenetic response. In April 2002, imatinib therapy provided hematological, cytogenetic and FISH remission, which was maintained until the last check-up in January 2005.

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Acknowledgements

Cosmid 9-4 and cosmid 4-1 were kindly provided by Dr Peter Marynen, University of Leuven, Belgium; RP11 and RP1 clones belong to the Roswell Park Cancer Institute libraries (http://www.chori.org/BACPAC) and were kindly provided by Dr Mariano Rocchi, DAPEG, University of Bari, Italy. The CTD-2601I11 clone belongs to the Caltech library and is distributed by Invitrogen. We thank Dr Geraldine Boyd for assistance in the preparation of this paper. This work is supported by AIRC (Associazione Italiana Ricerca sul Cancro), MIUR (Ministero per l'Istruzione, l'Università e la Ricerca Scientifica), FIRB, Fondazione Cassa di Risparmio di Perugia, Associazione ‘Sergio Luciani’ Fabriano, Italy. BC is supported by a grant from FIRC (Fondazione Italiana per la Ricerca sul Cancro), Italy.

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Authors and Affiliations

  1. Department of Hematology, University ‘Federico II’, Naples, Italy

    R Rosati, L Luciano, B Rotoli & F Pane

  2. Hematology and Bone Marrow Transplantation Unit, University of Perugia, Naples, Italy

    R La Starza, P Gorello, C Matteucci, V Pierini, S Romoli, B Crescenzi, M F Martelli & C Mecucci

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  1. R Rosati
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  2. R La Starza
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  3. L Luciano
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  12. C Mecucci
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Correspondence to C Mecucci.

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Rosati, R., La Starza, R., Luciano, L. et al. TPM3/PDGFRB fusion transcript and its reciprocal in chronic eosinophilic leukemia. Leukemia 20, 1623–1624 (2006). https://doi.org/10.1038/sj.leu.2404307

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