A pdgfrb-positive acute myeloid malignancy with a new t(5;12)(q33;p13. 3) involving the erc1 gene

Access through your institution Buy or subscribe 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 This is a preview of subscription content, access via your institution RELEVANT ARTICLES Open Access articles citing this article. *

GENOMIC AND CLINICAL FINDINGS IN MYELOID NEOPLASMS WITH PDGFRB REARRANGEMENT * Danika Di Giacomo * , Martina Quintini *  … Cristina Mecucci _Annals of Hematology_ Open Access 02 December

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about institutional subscriptions * Read our FAQs * Contact customer support ACCESSION CODES ACCESSIONS GENBANK/EMBL/DDBJ * NM_002609.3 * NM_178040.1 REFERENCES * La Starza R, Specchia G,

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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. AUTHOR INFORMATION Author notes * P Gorello and R La Starza: These authors equally

contributed to this work. AUTHORS AND AFFILIATIONS * 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 * Department of Hematology, University ‘La Sapienza’, Rome, Italy S M Trisolini, M Z Limongi, M Nanni, R Foà

 & G Meloni * European Institute of Oncology and IFOM-IEO Campus, Milan, Italy E Belloni, C Tapinassi, E Gerbino & P G Pelicci Authors * P Gorello View author publications You can

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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).

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