title: Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin.
abstract: The ETV6/ABL1 (TEL/ABL) fusion gene is a rare aberration in malignant disorders. Only 19 cases of ETV6/ABL1-positive hematological malignancy have been published, diagnosed with chronic myeloid leukemia, other types of chronic myeloproliferative neoplasm, acute myeloid leukemia or acute lymphoblastic leukemia (ALL). This study reports three new cases (aged 8 months, 5 years, and 33 years) of ALL with the ETV6/ABL1 fusion found by screening 392 newly diagnosed ALL patients (335 children and 57 adults). A thorough review of the literature and an analysis of all published data, including the three new cases, suggest poor prognosis of ETV6/ABL1-positive acute leukemias. The course of the disease in the two pediatric patients is characterized by minimal residual disease monitoring, using quantification of both the ETV6/ABL1 transcript and immunoreceptor gene rearrangements. Eosinophilia could not be confirmed as a hallmark of the ETV6/ABL1-positive disease. Studies of neonatal blood spots demonstrated that, in the child diagnosed at five years, the ETV6/ABL1 fusion initiating the ALL originated prenatally.
authors.affiliation: Department of Pediatric Hematology and Oncology, CLIP (Childhood Leukaemia Investigation Prague), Charles University Prague, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. jan.zuna@lfmotol.cuni.cz
authors.forename: Jan
authors.initials: J
authors.lastname: Zuna
authors.forename: Marketa
authors.initials: M
authors.lastname: Zaliova
authors.forename: Katerina
authors.initials: K
authors.lastname: Muzikova
authors.forename: Claus
authors.initials: C
authors.lastname: Meyer
authors.forename: Libuse
authors.initials: L
authors.lastname: Lizcova
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Zemanova
authors.forename: Jana
authors.initials: J
authors.lastname: Brezinova
authors.forename: Felix
authors.initials: F
authors.lastname: Votava
authors.forename: Rolf
authors.initials: R
authors.lastname: Marschalek
authors.forename: Jan
authors.initials: J
authors.lastname: Stary
authors.forename: Jan
authors.initials: J
authors.lastname: Trka
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D015997:Neonatal Screening; D018365:Neoplasm, Residual / Q000175:diagnosis* / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000473:pathology; D011379:Prognosis; D011446:Prospective Studies; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D015514:Oncogene Proteins, Fusion; D011505:Protein-Tyrosine Kinases; D012333:RNA, Messenger; C426234:TEL-ABL fusion protein, human; D000097764:ETS Translocation Variant 6 Protein