A new complex rearrangement involving the ETV6, LOC115548, and MN1 genes in a case of acute myeloid leukemia
Corresponding Author
Elena Belloni
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Istituto FIRC di Oncologia Molecolare, Via Adamello 16, 20139 Milan, ItalySearch for more papers by this authorMaurizio Trubia
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Search for more papers by this authorMarco Mancini
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorValentina Derme
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorMauro Nanni
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorIdoya Lahortiga
University of Navarra, Department of Genetics, Pamplona, Spain
Search for more papers by this authorRoberta Riccioni
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Search for more papers by this authorStefano Confalonieri
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Search for more papers by this authorFrancesco Lo-Coco
Università di Roma Tor Vergata, Dipartimento di Biopatologia e Diagnostica per Immagini, Rome, Italy
Search for more papers by this authorPier Paolo Di Fiore
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Dipartimento di Medicina, Chirurgia ed Odontoiatria, Universita' degli Studi di Milano, Milan, Italy
Search for more papers by this authorPier Giuseppe Pelicci
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Dipartimento di Medicina, Chirurgia ed Odontoiatria, Universita' degli Studi di Milano, Milan, Italy
Search for more papers by this authorCorresponding Author
Elena Belloni
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Istituto FIRC di Oncologia Molecolare, Via Adamello 16, 20139 Milan, ItalySearch for more papers by this authorMaurizio Trubia
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Search for more papers by this authorMarco Mancini
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorValentina Derme
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorMauro Nanni
University La Sapienza, Section of Hematology, Department of Cellular Biotechnologies and Hematology, Rome, Italy
Search for more papers by this authorIdoya Lahortiga
University of Navarra, Department of Genetics, Pamplona, Spain
Search for more papers by this authorRoberta Riccioni
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Search for more papers by this authorStefano Confalonieri
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Search for more papers by this authorFrancesco Lo-Coco
Università di Roma Tor Vergata, Dipartimento di Biopatologia e Diagnostica per Immagini, Rome, Italy
Search for more papers by this authorPier Paolo Di Fiore
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Dipartimento di Medicina, Chirurgia ed Odontoiatria, Universita' degli Studi di Milano, Milan, Italy
Search for more papers by this authorPier Giuseppe Pelicci
IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
Istituto Europeo di Oncologia, Milan, Italy
Dipartimento di Medicina, Chirurgia ed Odontoiatria, Universita' degli Studi di Milano, Milan, Italy
Search for more papers by this authorAbstract
A new complex rearrangement involving chromosome bands 5q13, 12p13, 22q11, and 3q12 was identified and characterized in a patient with acute myeloid leukemia. Fluorescence in situ hybridization showed the involvement of the ETV6 gene in 12p13. ETV6 primers were specifically designed for 3′- and 5′-RACE-PCR experiments, which led to the identification of the other two rearranged genes. The derivative chromosome 5 harbored a fusion of the ETV6 sequence with that of the LOC115548 gene. The two genes were placed in opposite orientation and did not encode a fusion protein. On the derivative chromosome 12, ETV6 was fused to the MN1 gene on chromosome 22. Also in this case, the insertion, within the MN1 sequence, of a portion of chromosome 3 prevented the formation of a fusion protein. Finally, the derivative chromosome 22 contained the 3′ portions of both LOC115548 and MN1, and no fusion transcript with coding potential could be predicted. In conclusion, all chromosome breakpoints led to the truncation of the three involved genes in the absence of predicted fusion proteins. This study lends further support to the hypothesis that gene disruption resulting in either loss of function or haploinsufficiency may be relevant in acute myeloid leukemia pathogenesis. © 2004 Wiley-Liss, Inc.
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