Rare Cytogenetic Abnormalities Showing both MLL Rearrangement and Philadelphia Chromosome Positive in Pediatric Acute Lymphoblastic Leukemia Patients.
Loading...
Date
2016-07
Authors
Journal Title
Journal ISSN
Volume Title
Publisher
Abstract
Objective: To evaluate the cytogenetics abnormalities in pediatric ALL cases and to
correlate the cytogenetics Philadelphia chromosome - positive with the Fluorescence
In - Situ Hybridization results.
Methods: Retrospective cytogenetics and FISH analysis of the Bone marrow samples
of both adult and pediatric patientswere done. However, since the inclusion criteria
for this study was pediatric ALL, only the data of the pediatric patients were taken
for this study. For the prospective samples, the cytogenetic analyses and Fluorescence
in - Situ Hybridization were performed on the procured samples. The cytogenetics and
FISH test were performed as per the standard protocol of our lab and were analysed
as per the standard guideline. The cytogenetics Philadelphia chromosome - positive
were correlated with the Fluorescence In - Situ Hybridization results and vice versa.
Results: In our study of 50 pediatric ALLB patients, two patients showed low Ph+ by
FISH. A confirmatory test by conventional cytogenetics revealed a rare association
of Philadelphia chromosome positive along with the cytogenetics abnormality
involving the MLL gene as well. One of the patient showed a karyotype of 46,XY,del(9)
(p21),t((10;11)(p12;q21)[7]/46,XY,del(9)(p21)[9]/46,XYdel(22)(q11.2)[3] and the
other patient showed 46, XX, t(9;11) (p13;q23)),?del(22)(q11.2)[6]/46,XX,del (11)
(q23) [8]/46, XX[5] which were confirmed by cytogenetics and Fluorescence In - Situ
Hybridization (FISH). Two patients showed complete Ph+ve and one patient showed
normal karyotype along with tetraploidy. The rest of the cases showed either a normal
karyotype or an insignificant abnormality.
Conclusion: In our study of 50 pediatric ALL patients, two cases showed a rare
association of Philadelphia chromosome positive along with a cytogenetics abnormality
involving the MLL gene. Apart from the rare findings in our study, emphases is also
made on the confirmatory test by cytogenetics incidence of low Ph+ve by FISH and
vice versa and a need for larger collaborative studies and intense follow up of the
treatment and the prognosis of this subset of patients to determine the prognostic
pattern to improve the treatment options for these kind of rare patients.
Description
Keywords
Ph+ve, Acute lymphoblastic leukemia, Pediatric ALL, BCR-ABL- positive acute lymphoblastic leukemia, MLL gene
Citation
Beula P R Angel, Kumari Prasanna. Rare Cytogenetic Abnormalities Showing both MLL Rearrangement and Philadelphia Chromosome Positive in Pediatric Acute Lymphoblastic Leukemia Patients. Acta Medica International. 2016 Jul-Dec; 3(2): 36-39.