scholarly journals Detection of New Translocation in Infant Twins with Concordant ALL and Discordant Outcome

2020 ◽  
Vol 13 (1) ◽  
pp. 9-14
Author(s):  
Golamreza Bahoush ◽  
Maryam Vafapour ◽  
Roxana Kariminejad
Keyword(s):  
Gene Rearrangement ◽  
Cytogenetic Study ◽  
Lymphoblastic Leukemia ◽  
Monozygotic Twins ◽  
Protective Role ◽  
Genetic Studies ◽  
Cytogenetic Testing ◽  
The Difference ◽  
Special Case ◽  
Mll Gene Rearrangement

About 2–5% of acute lymphoblastic leukemia (ALL) cases in pediatric patients are infants with an unfavorable prognosis because of high relapse probability. Early detection of the disease is, therefore, very important. Despite the fact that leukemia in twins occurs rarely, more attention has been paid to it in genetic studies. In the present study, through cytogenetic testing, a special case of concordant ALL in monozygotic twins was presented with different outcomes. In spite of an acceptable initial consequence to medical treatment in twins, in another brother (Twin B), early relapse was observed. In the cytogenetic study, both twins expressed t (4; 11) (q21; q23) while twin A expressed t (2; 7) (p10; q10). No cases have previously reported this mutation. Whether this translocation has a protective role for leukemia with mixed-lineage leukemia (MLL) gene rearrangement is still unclear. The difference in the translocation identified in the identical twins is also subject to further investigations.

Unusual profiles of pediatric acute lymphoblastic leukemia with MLL gene rearrangement

2007 ◽  
Vol 48 (10) ◽  
pp. 2083-2086 ◽  
Author(s):  
Malgorzata Kubicka ◽  
Krystyna Soszynska ◽  
Barbara Mucha ◽  
Beata Rafinska ◽  
Beata Kolodziej ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Gene Rearrangement ◽  
Lymphoblastic Leukemia ◽  
Pediatric Acute Lymphoblastic Leukemia ◽  
Mll Gene ◽  
Mll Gene Rearrangement

scholarly journals Molecular analysis of infant acute lymphoblastic leukemia: MLL gene rearrangement and reverse transcriptase-polymerase chain reaction for t(4; 11)(q21; q23)

Blood ◽  
1995 ◽  
Vol 86 (10) ◽  
pp. 3876-3882 ◽  
Author(s):  
JM Hilden ◽  
JL Frestedt ◽  
RO Moore ◽  
NA Heerema ◽  
DC Arthur ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Acute Lymphoblastic Leukemia ◽  
Gene Rearrangement ◽  
Lymphoblastic Leukemia ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Mll Gene ◽  
Polymerase Chain ◽  
Mll Gene Rearrangement ◽  
Infant Acute Lymphoblastic Leukemia

Molecular techniques to detect MLL (11q23) and AF-4 (4q21) gene rearrangements are being evaluated for use in stratification of patients into prognostic groups. We studied 15 cases of infant acute lymphoblastic leukemia (ALL) with Southern blotting for MLL gene rearrangement and reverse transcriptase-polymerase chain reaction (RT- PCR) for t(4;11) fusion transcripts and compared the results to cytogenetic and clinical data. Our results indicate that classic t(4;11)(q21;q23) translocations are detected by RT-PCR; however, unusual 4;11 translocations still require additional investigation. We also extended and updated our original study of MLL gene rearrangement in infant ALL to 40 patients with longer follow-up and show that the group with germline configuration of the MLL gene continues to have an excellent outcome. The results of salvage therapy (bone marrow transplantation or chemotherapy) suggest that transplant may show advantage. Preliminary results of the use of RT-PCR to assess minimal disease are also reported.

scholarly journals Rearrangement of the MLL gene confers a poor prognosis in childhood acute lymphoblastic leukemia, regardless of presenting age

Blood ◽  
1996 ◽  
Vol 87 (7) ◽  
pp. 2870-2877 ◽  
Author(s):  
FG Behm ◽  
SC Raimondi ◽  
JL Frestedt ◽  
Q Liu ◽  
WM Crist ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Poor Prognosis ◽  
Gene Rearrangement ◽  
Lymphoblastic Leukemia ◽  
Treatment Protocol ◽  
Leukemic Cell ◽  
Gene Rearrangements ◽  
Childhood All ◽  
Mll Gene ◽  
Mll Gene Rearrangement

MLL gene rearrangements are associated with an extremely poor prognosis in infants with acute lymphoblastic leukemia (ALL), but little is known about their clinical significance in older children. Therefore, we studied 45 cases of childhood ALL with abnormalities of chromosome 11q23 for rearrangement of the MLL gene to determine if this feature confers a uniformly poor prognosis. MLL gene rearrangements were detected in all 18 cases with the common t(4;11), t(9;11) or t(11;19) translocations, whereas only 5 of 12 patients with either unbalanced or uncommon balanced translocations demonstrated a rearrangement. Abnormalities of the MLL gene were not detected in any of the 15 cases with a deletion or inversion of the chromosomes 11q23 region. The presence of an MLL rearrangement was significantly associated with age less than 1 year (P < .001), leukocyte count –>50 x 10(9)/L (P = .003), and the absence of leukemic cell CD10 expression (P < .001). In a stratified statistical analysis adjusted for age and treatment protocol, MLL gene rearrangement was correlated with an inferior treatment outcome (P = .028). The 4-year event-free survival estimate (+/-SE) was 10% +/-6.5% for cases with a rearranged MLL gene and 64% +/-19.2% for other cases. When infants were excluded from the analysis, MLL rearrangement was still significantly associated with a poor outcome (P = .02), and remained so with the exclusion of t(4;11)-positive cases (P = .05). Thus, regardless of presenting age, MLL gene rearrangement identifies a high-risk subgroup of patients who are not likely to be cured with conventional treatment.

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