POSTER 5
A CRYPTIC CYTOGENETIC REARRANGEMENT IN CML
Maria Eduarda Couto1, Nuno Cerveira2, Cecília Correia2, Susana Bizarro2, Susana Lisboa2, Manuel
Teixeira2 and José Mariz1
(1)Onco-hematology Department, Instituto Português de Oncologia do Porto, F.G., E.P.E., Porto,
Portugal
(2)Genetics Department, Instituto Portugues de Oncologia do Porto, F.G., E.P.E, Porto, Portugal
Chronic Myeloid Leukemia (CML) is currently a chronic disease, in which an “operational cure”
can be achieved in some cases with treatment with tyrosine kinase inhibitors (TKIs). The
genetic characterization at diagnosis is mandatory, both at the molecular and cytogenetic
levels. This is necessary not only to identify the BCR-ABL1 gene fusion as a result of the t(9;22)
translocation, but also to exclude the present of additional cytogenetic abnormalities with
prognostic relevance. In this work, we report a cryptic cytogenetic rearrangement in a newly
diagnosed CML patient.
Leukocytosis (78x10E9/L) with basophilia (0.78x10E9/L) was identified in a routine blood
analysis in a 67-year-old male. The patient had a past medical history of heart failure with low
ejection fraction caused by ischemic disease (subjected to two coronary bypass in 2004),
pacemaker for atrial-ventricular block, arterial hypertension, dyslipidemia, and benign
prostate hyperplasia. He also had a 2.5 kg weight loss in the previous month and anorexia. He
was referred to the Hematology Department for suspicion of CML. The bone marrow study
was morphologically compatible with CML. The bone marrow karyotype was 46,XY20.ish
ins(22;9)(q11.2;q34q34)(BCR+,ABL1+;ABL1-), showing a cryptic insertion of the ABL1 gene in
chromosome 22. The molecular study of the bone marrow aspirate showed the presence of a
b3a2 BCR-ABL1 fusion variant that codes for the p210 protein and the diagnosis of chronic
phase CML was established. Prognostic score were Sokal high, Hasford intermediate, EUTOS
low, and ELTS intermediate. After a week of cytorreduction with hydoxyurea, imatinib was
initiated and a complete hematologic response was achieved.
In this work, we report a case with a cryptic cytogenetic rearrangement as a result of the
insertion of the ABL1 gene in chromosome 22 which originated the formation of a BCR-ABL1
fusion gene. Although unusual, this rearrangement is not classified as a complex
aberrant karyotype, and for this reason the patient cannot be classified as high risk. However,
since the patient was classified as high risk by Sokal and intermediate by ELTS scores, which
can have a negative impact in the patient overall survival, closer follow-up is warranted.
SCIENTIFIC PROGRAMME
SESSION I
OPTIMIZING
CYTOREDUCTION
SESSION II
MANAGEMENT OF CML
WITH TKI
SESSION III
MPN RISK
STRATIFICATION
INCLUDING VASCULAR
EVENTS
DEBATE 1
INTERFERON ALPHA
SHOULD BE FRONT LINE
THERAPY IN ALL ET/PV
PATIENTS
ROUNDTABLE 1
INFECTIONS IN
MYELOPROLIFERATIVE
DISORDERS, INCLUDING
CML
ROUNDTABLE 2
PREGNANCY AND
PARENTING
DEBATE 2
ALLOGENEIC STEM CELL
TRANSPLANTATION
SHOULD BE CONSIDERED
THIRD LINE OPTION IN
CHRONIC PHASE CML
SESSION IV
EVOLVING THERAPIES
IN MYELOFIBROSIS
SESSION V
MANAGEMENT OF
ADVANCED AND UNUSUAL
DISEASE (MPN AND CML)
SESSION VI
TREATMENT FREE
REMISSION IN CML
KEYNOTE LECTURE
SELECTED ABSTRACTS
FOR AN ORAL
PRESENTATION
SELECTED ABSTRACTS
FO R A POSTER
PRESENTATION
DISCLOSURES