Late ovarian relapse of TEL/AML1 positive ALL confirming that TEL deletion is a secondary event in leukemogenesis.
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.
Ly-Sunnaram
Beatrice
B
Laboratoire d'ématologie et d'mmunologie CHU - Université de Rennes1, Avenue du Professeur Léon Bernard, Rennes, France.
Henry
Catherine
C
Gandemer
Virginie
V
Mee
Franseza Le
FL
Burtin
Florence
F
Blayau
Martine
M
Cayuela
Jean-Michel
JM
Oster
Magalie
M
Clech
Philippe
P
Rambeau
Marc
M
Marie
Celine
C
Pampin
Cecilia
C
Edan
Christine
C
Gall
Edouard Le
EL
Goasguen
Jean E
JE
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
D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein