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A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene

Leukemia volume 22, pages 216–218 (2008)Cite this article

A 36-year-old man was referred to the Division of Hematology, Rome, in November 2006 because of a relapsed AML after an autologous stem cell transplantation (auto-SCT). The previous diagnosis of AML M5a had been made in 2002. The past history revealed a slight leukocytosis (14 × 109/l) from October 2000. On admission, the peripheral blood count was: hemoglobin, 11.4 g/dl, Platelets 97 × 109/l, white blood cells, 3.1 × 109/l (polymorphonuclear cells 12%, lymphocytes 63%, monocytes 11%, Blast 14%). Liver and spleen were enlarged. The bone marrow aspirate was hypercellular with a diffuse infiltration of medium and large blasts with basophilic cytoplasm (71% of nucleated cells). Megakaryocytes were dysplastic. The karyotype was 46,XY,t(5;12)(q33;p13.3)[9]/92,XXYY,t(5;12)(q33;p13.3)X2[12]. Given the 5q33 breakpoint we performed a double-color metaphase FISH with cosmid 9-4 for the 3′-PDGFRB (orange) and cosmid 4-1 (green) for the 5′-PDGFRB.1 FISH gave one orange/green fusion signal on normal five, one orange signal on der(5) and one green signal on der(12), indicating the t(5;12) disrupted PDGFRB. Cosmid 179A6 (5′-ETV6) and cosmid 148B6 (3′-ETV6) gave two orange/green fusion signals on normal 12 and on der(12), indicating that the 12p13.3 breakpoint mapped telomeric to ETV6.1

FISH with five cosmids for loci/genes localized telomeric to ETV6, that is, cosmid 214C9 for D12S994, cosmid 135H12 for D12S939, cosmid 139D4 for CACNL1A1, cosmid 152H1 for FGF6 and cosmid 147G1 for NOL1 narrowed the 12p13 breakpoint to a 1 M region, between locus D12S939 and locus D12S994.2 We hypothesized that ERC1 (ELKS/RAB6-interacting/CAST family member 1) was a putative partner for PDGFRB since of all the genes mapping within this DNA segment, only ERC1 contains dimerization domains, which are a common feature of all PDGFRB partners. FISH with four DNA clones RP11-359B12, RP4-773N5, RP11-1087E18 and RP11-73H11 encompassing the ERC1 gene from telomere to centromere indicated that the breakpoint fell within clone RP11-1087E18.3

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Acknowledgements

We thank Dr Geraldine Boyd for assistance in the preparation of the manuscript. This study was partly supported by AIRC (Associazione Italiana Ricerca sul Cancro), MIUR (Ministero per l'Istruzione, l'Università e la Ricerca Scientifica), Fondazione Cassa di Risparmio and AULL (Associazione Umbra per la lotta contro le leucemie), Perugia and “Associazione Sergio Luciani”, Fabriano, Italy. BC is supported by FIRC (Federazione Italiana Ricerca sul Cancro). Cosmids for PDGFRB, ETV6, and for the short arm of chromosome 12 were kindly provided by Dr J Cools and Dr P Marynen (Centre for Human Genetics, University of Leuven, Leuven, Belgium); RP11 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 belong to the Caltech library and is distributed by Invitrogen. Fondazione Benilde Viotti.

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  1. P Gorello and R La Starza: These authors equally contributed to this work.

Authors and Affiliations

  1. Department of Hematology, University of Perugia, IBiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Perugia, Italy

    P Gorello, R La Starza, L Brandimarte, V Pierini, B Crescenzi, M F Martelli & C Mecucci

  2. Department of Hematology, University ‘La Sapienza’, Rome, Italy

    S M Trisolini, M Z Limongi, M Nanni, R Foà & G Meloni

  3. European Institute of Oncology and IFOM-IEO Campus, Milan, Italy

    E Belloni, C Tapinassi, E Gerbino & P G Pelicci

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Correspondence to C Mecucci.

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Gorello, P., La Starza, R., Brandimarte, L. et al. A PDGFRB-positive acute myeloid malignancy with a new t(5;12)(q33;p13.3) involving the ERC1 gene. Leukemia 22, 216–218 (2008). https://doi.org/10.1038/sj.leu.2404894

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