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العنوان
The role of fluorescent in situ hybridizationtechnique in management of acute lympholasticleukemia among egyptian children /
المؤلف
El Assi, Hoda Hamdy .
الموضوع
Clinical Genetics .
تاريخ النشر
2010 .
عدد الصفحات
93 p. :
الفهرس
Only 14 pages are availabe for public view

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from 122

Abstract

The present study included 34 cases of newly diagnoses acute lymphoblastic
leukemia. Fifteen cases were lost due to contamination and other 2 cases failed to show
neither metaphase nor interphase nuclei. The remaining 17 cases were successfully
processed. They were found to be of c-ALL (7cases 41.1%), pre B-ALL (8 cases 47%) and
T-ALL (2 cases 11.7%) phenotypes by both morphology and immunopheotyping. They
were further subjected to karyotyping after direct, synchronization and short term blood
culture techniques using GTG banding method. Fluorescent in situ hybridization analysis
was done afterwards using red/green labeled break apart dual colour probes spanning the
critical region 11q23.
A single case revealed successful cytogenetics but with fuzzy bad morphology and
overcrowded metaphase spread chromosomes.
FISH results revealed a single case with (75% positivity of its counted nuclei) with
translocation of one chromosome 11q23, while double translocations involving
chromosome 11q23 were found in (10% counted nuclei) and a deletion of one
chromosome 11q23 (5%) seen in one nucleus. The remaining nuclei (5%) showed normal
chromosomes 11 without any rearrangements detected.
Twelve cases showed from 5-15% positive t(11q23); case 1 showed double t(11q23)
in one nucleus and single translocation in another nucleus. There was one cell with
complete chromosome 11 deletion, 2 minimal probe separation were once recorded, while
the remaining cells were negative for any chromosome 11 abnormality. Case 2 had one
positively counted translocation, minimal probe separation was seen in other 3 nuclei while
the remaining cells were found to be normal with no apparent chromosome 11
rearrangement. Case 4 had only 2 minimally separated signals. Case 5 had 3 positive
translocations of one chromosome 11, one nucleus with double t(11q23) and one
minimally separated red/green probes. Case 7 had 3 nuclei showing deletion of one
chromosome 11 and 2 minimally separated probe signals. Case 8 showed one split apart
signal, one minimally separated signal and one deleted signal. Case 9 had 2 nuclei with
positive translocations of one chromosome 11, one nucleus with double probe separation,
one nucleus with double minimally separated probes and another nucleus with a single
minimal probe separation. Case 11 had 3 nuclei with positive chromosome 11
translocation, a minimally separated signal seen in other 3 nuclei, double minimally
separated probes detected in another nucleus and a deleted chromosome 11 seen in another
nucleus. Case 13 and 16 had one positive signal splitting in one nucleus and another
rminimally separated signal. Case 14 revealed 2 nuclei with positive split signal and one
minimal probe separation. Case 15 had 2 nuclei with a deleted chromosome 11 in each one
and a single minimal probe separation.
Four cases were found to be lacking any chromosome 11q23 translocations and were
considered as negative FISH results. Six cases(1,7,8,10,11,15) showed either complete or
partial deletion of one chromosome 11. Five cases showed translocations involving both
chromosomes 11 cases (1,5,9,10,16) that was not reported in the literature before.