Infant acute lymphoblastic leukemia – combined cytogenetic, immunophenotypical and molecular analysis of 77 cases

Borkhardt, Arndt; Wuchter, Christian; Viehmann, Susanne; Pils, S; Teigler‐Schlegel, Andrea; Stanulla, Martin; Zimmermann, Martin; Wd, Ludwig; Janka‐Schaub, Gritta; Schrappe, Martin; Harbott, Jochen

doi:10.1038/sj.leu.2402595

Cited by 69 publications

(53 citation statements)

References 26 publications

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“…4 Another study of 47 ALL infants whose karyotypes were successfully studied reported rearranged MLL and normal karyotype in three (3/47, 6%). 19 In the other study of 14 adult patients with AML-M4/M5 and MLL rearrangements, six had normal karyotype and two had abnormal karyotype with no 11q23 translocation. 3 Thus, the present and the previous studies showed that the discrepancies in the incidences of 11q23/MLL rearrangement between cytogenetic and molecular genetic findings are not uncommon in infant leukemia and in adult AML-M4/M5.…”

Section: Discussionmentioning

confidence: 99%

Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings

et al. 2003

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Of 51 infants with acute leukemia, 13 (25%) had contradictory findings on 11q23/MLL rearrangements that were analyzed by cytogenetic and Southern blot methods: seven had rearranged MLL and normal karyotype, four had rearranged MLL and abnormal karyotype with no 11q23 translocation, and two had germline MLL and 11q23 translocations. Fluorescent in situ hybridization (FISH) analysis using an MLL probe that was performed to elucidate the discrepancy disclosed the presence of normal dividing cells and nondividing leukemic cells in the same bone marrow in five patients, and cryptic insertion or translocation in another five. Subsequent FISH and reverse transcription-polymerase chain reaction analysis identified the MLL-AF10, MLL-AF4, or MLL-AF1q fusions that were produced by the cryptic rearrangements in four of the five patients. In the remaining three patients, the breakpoint of 11q23 translocation was located distal to the MLL locus in one, and the discrepancy was unresolved in two. Thus, FISH should complement cytogenetic analysis when cytogenetic and molecular genetic findings are contradictory in infant leukemia, and when infant leukemia does not show 11q23 translocations or other specific translocations including t(7;12), t(1;22), etc that are recurrently found in infant leukemia.

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Section: Discussionmentioning

confidence: 99%

Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings

et al. 2003

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“…[7][8] However, the t(9;11) translocation, although the most common 11q23 chromosomal abnormality associated with de novo AML with monocytic differentiation (FAB M4 and M5) and DNA-topoisomerase inhibitor therapyrelated AML, is only rarely seen in precursor B-ALL. [10][11][12]26,27 Although the exact fusion gene in our cases was not determined, studies of the t(9;11) translocation in AML most commonly results in a fusion of the MLL and AF9 genes. 26 Additional studies have suggested that the resultant MLL/AF9 fusion gene is involved in myeloproliferation 13 and leukemogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, myeloid and naturalkiller cell antigens, such as CD15 and CD56, can frequently be expressed. 12 This is in contrast to B-ALL in infants without MLL gene rearrangement, which frequently expresses CD10. In gene expression profile studies, MLL þ precursor B-ALL shows a profile consistent with an early hematopoietic progenitor that is distinct from conventional B-ALL and AML, suggesting that MLL þ precursor B-ALL is a clinically and molecularly unique entity.…”

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confidence: 94%

“…Infantile B-ALL, generally a precursor B-ALL, has a poor prognosis and is frequently associated with rearrangement of the MLL gene [10][11][12] through different genetic aberrations involving chromosome 11q23. Reciprocal translocations are most common and the following are most common in decreasing order of frequency: t(4;11)(q21;q23), t(11;19)(q23;p13.3) and t(9;11)(p21-22;q23).…”

mentioning

confidence: 99%

“…Reciprocal translocations are most common and the following are most common in decreasing order of frequency: t(4;11)(q21;q23), t(11;19)(q23;p13.3) and t(9;11)(p21-22;q23). [10][11][12] MLL gene rearrangements are seen in both B-ALL and T-cell ALL, and in acute myelogenous leukemia (AML), especially DNAtopoisomerase inhibitor therapy-related AML. 13,14 Infantile B-ALL with MLL gene rearrangements or MLL þ precursor B-ALL has typically a CD10À, CD20À, CD34 þ , TdT þ, and HLA-DR þ pro-B-cell immunophenotype.…”

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confidence: 99%

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Mature B-cell acute lymphoblastic leukemia with t(9;11) translocation: a distinct subset of B-cell acute lymphoblastic leukemia

et al. 2004

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Mature B-cell acute lymphoblastic leukemia (ALL) is typically associated with the FAB-L3 morphology and rearrangement of the MYC gene, features characteristic of the leukemic phase of Burkitt's lymphoma. However, the term 'mature' has also been used to describe other rare cases of B-ALL with light-chain surface immunoglobulin expression. In contrast, infantile B-cell ALL is generally characterized by rearrangement of the MLL gene, an immature pro-B-cell phenotype, and CD10 negativity. We describe two unusual cases of infantile B-ALL with non-L3 morphology, expressing a mature B-cell phenotype (k sIg þ , CD19 þ , CD10À, TdTÀ, and CD34À), and showing MLL rearrangement without MYC rearrangement at presentation. Both infants relapsed after months of morphologic and genetic remission. At relapse, the t(9;11) translocation was detected in both cases by spectral karyotyping. After the initial relapse, both cases followed a rapid and aggressive course. Literature search identified few similar cases, all expressed k surface immunoglobulin and showed MLL rearrangement (majority with the t(9;11) translocation). These cases show that B-ALL with MLL rearrangement, especially the t(9;11) translocation, can express a 'mature' B-cell phenotype and may represent a distinct subset. Identification of additional cases will further clarify the significance of MLL rearrangements in mature B-ALL.

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Acute Leukaemia

2013

Practical Flow Cytometry in Haematology Diagnosis

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Infant acute lymphoblastic leukemia – combined cytogenetic, immunophenotypical and molecular analysis of 77 cases

Cited by 69 publications

References 26 publications

Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings

Cryptic insertion and translocation or nondividing leukemic cells disclosed by FISH analysis in infant acute leukemia with discrepant molecular and cytogenetic findings

Mature B-cell acute lymphoblastic leukemia with t(9;11) translocation: a distinct subset of B-cell acute lymphoblastic leukemia

Acute Leukaemia

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