2014
DOI: 10.14302/issn.2372-6601.jhor-13-358
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Molecular Cytogenetic Investigations In A Novel Chromosomal Abnormality Of T(10;15)(q22;q22) In A Pediatric Precursor-B-Acute Lymphoblastic Leukemia Patient

Abstract: Acute lymphoblastic leukemia (ALL) is a rapid form of leukemia characterized by clonal proliferation and accumulation of immature hematopoietic stem cells of the lymphoid lineage in the bone marrow as well as peripheral blood. Chromosomal aberrations identified in childhood ALL have an important role in disease diagnosis, prognosis and management. We present the results of hematologic, immunophenotypic, cytogenetic, FISH and Multiplex RT-PCR analysis of a 6-year-old boy diagnosed with B-cell precursor Acute Ly… Show more

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“…We karyotyped bone marrow aspirate or whole blood cells withdrawn at diagnosis as per standard unstimulated direct (0 h, 3 h) and short term (24 h, 48 h) cell culture technique previously described (Bhandari et al, 2014). In brief, cells were cultured in RPMI (Sigma, Schnelldorf, Germany) medium supplemented with 20% FBS (Gibco, Grand Island, NY) at 37°C.…”
Section: Cytogenetic Analysismentioning
confidence: 99%
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“…We karyotyped bone marrow aspirate or whole blood cells withdrawn at diagnosis as per standard unstimulated direct (0 h, 3 h) and short term (24 h, 48 h) cell culture technique previously described (Bhandari et al, 2014). In brief, cells were cultured in RPMI (Sigma, Schnelldorf, Germany) medium supplemented with 20% FBS (Gibco, Grand Island, NY) at 37°C.…”
Section: Cytogenetic Analysismentioning
confidence: 99%
“…Additionally as shown in Figure 2, in the current study FISH analysis helped reveal additional structural or numerical changes. These included cryptic deletions at ABL breakpoint on chromosome 9(q) (n=7), multiplication involving the 22q11.2 BCR locus (n=1), presence of masked double/ multiple Philadelphia chromosome (n=4) in BCR-ABL positive patients; and deletions of non- (Bhandari et al, 2014). Further, in the present study molecular [FISH and RT-PCR] techniques helped overcome hurdles of detection of cryptic rearrangements and lack of metaphase cells allowing identification of t(9;22) (n=24), t(12;21) (n=8), t(1;19) (n=16) and 11q23 rearrangements (n=5).…”
Section: Structural Chromosomal Changesmentioning
confidence: 99%