title: Late ovarian relapse of TEL/AML1 positive ALL confirming that TEL deletion is a secondary event in leukemogenesis.
abstract: We describe here a late extramedullary ovarian relapse in an 18-year-old female who was diagnosed with hypotetraploid cell acute lymphoblastic leukaemia (cALL) at the age of 6. At both occurrences of the disease cells were analyzed by morphology, immunophenotyping, cytogenetics and molecular methods. TEL/AML1 was detected by RT-PCR and FISH analysis in both events. We demonstrated, using detection of IGH/TCR rearrangements and TEL/AML1 breakpoints sequencing that the cells were clonally related. Moreover, interphasic FISH using TEL and AML1 probes showed the loss of a second TEL at the time of relapse. This observation confirms that TEL/AML1 alone is not sufficient to trigger ALL and that TEL deletion is a secondary event in leukemogenesis. To our knowledge, it is the first complete description of extramedullary ALL relapse combining all methodologies.
authors.affiliation: Laboratoire d'ématologie et d'mmunologie CHU - Université de Rennes1, Avenue du Professeur Léon Bernard, Rennes, France.
authors.forename: Beatrice
authors.initials: B
authors.lastname: Ly-Sunnaram
authors.forename: Catherine
authors.initials: C
authors.lastname: Henry
authors.forename: Virginie
authors.initials: V
authors.lastname: Gandemer
authors.forename: Franseza Le
authors.initials: FL
authors.lastname: Mee
authors.forename: Florence
authors.initials: F
authors.lastname: Burtin
authors.forename: Martine
authors.initials: M
authors.lastname: Blayau
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Cayuela
authors.forename: Magalie
authors.initials: M
authors.lastname: Oster
authors.forename: Philippe
authors.initials: P
authors.lastname: Clech
authors.forename: Marc
authors.initials: M
authors.lastname: Rambeau
authors.forename: Celine
authors.initials: C
authors.lastname: Marie
authors.forename: Cecilia
authors.initials: C
authors.lastname: Pampin
authors.forename: Christine
authors.initials: C
authors.lastname: Edan
authors.forename: Edouard Le
authors.initials: EL
authors.lastname: Gall
authors.forename: Jean E
authors.initials: JE
authors.lastname: Goasguen
mesh_terms: D000293:Adolescent; D050676:Core Binding Factor Alpha 2 Subunit; D005260:Female; D017353:Gene Deletion; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000556:secondary*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics / Q000473:pathology*; D012008:Recurrence; D020133:Reverse Transcriptase Polymerase Chain Reaction; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein