title: MLLT10 and IL3 rearrangement together with a complex four-way translocation and trisomy 4 in a patient with early T-cell precursor acute lymphoblastic leukemia: A case report.
abstract: Cytogenetic classification of acute lymphoblastic leukemia (ALL) is primarily based on numerical and structural chromosomal abnormalities. In T-cell ALL (T-ALL), chromosomal rearrangements are identified in up to 70% of the patients while the remaining patients show a normal karyotype. In the present study, a 16-year-old male was diagnosed with T-precursor cell ALL and a normal karyotype after standard GTG-banding, was studied retrospectively (>10 years after diagnosis) in frame of a research project by molecular approaches. In addition to molecular cytogenetics, multiplex ligation-dependent probe amplification (MLPA) and high resolution array-comparative genomic hybridization (aCGH) were also applied. Thus, the following yet unrecognized balanced chromosomal aberrations were detected: der(3)t(3;5)(p23;q31.1), der(5)t(3;5)(p23;q35.3), der(5)t(5;10)(q31.1;p12.3) and der(10)t(5;10)(q35.3;p12.3). The oncogene MLLT10 was involved in this rearrangement as was the IL3 gene; in addition, trisomy 4 was present. All of these clonal aberrations were found in 40% of the cells. Even if this complex karyotype would have been identified at the time of diagnosis, most likely no other protocol of anticancer therapy (ALL-BFM 95) would have been applied. Three months after the end of a successful 2-year treatment, the patient suffered from isolated bone marrow relapse and died of sepsis during ALL-REZ-BFM protocol treatment.
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Moneeb A K
authors.initials: MA
authors.lastname: Othman
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
authors.forename: Joana B
authors.initials: JB
authors.lastname: Melo
authors.affiliation: Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
authors.forename: Isabel M
authors.initials: IM
authors.lastname: Carreira
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Martina
authors.initials: M
authors.lastname: Rincic
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Eyad
authors.initials: E
authors.lastname: Alhourani
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Kathleen
authors.initials: K
authors.lastname: Wilhelm
authors.affiliation: Department of Pediatrics (Oncology and Hematology), Jena University Hospital, Friedrich Schiller University, Jena, Germany.
authors.forename: Bernd
authors.initials: B
authors.lastname: Gruhn
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Anita
authors.initials: A
authors.lastname: Glaser
authors.affiliation: Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000293:Adolescent; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D020732:Cytogenetic Analysis / Q000379:methods; D006801:Humans; D007377:Interleukin-3 / Q000235:genetics*; D008297:Male; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D011379:Prognosis; D012189:Retrospective Studies; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*
chemical_list: C508596:IL3 protein, human; D007377:Interleukin-3; C092513:MLLT10 protein, human; D014157:Transcription Factors