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I DDX41 i mutations were detected in 0.6% (2/329) adult ALL patients of our cohorts comparable with a recent report.[10] Previous studies showed that I DDX41 i -mutated patients of MNs presented as male predominance and old age. Germline DDX41 mutations define a significant entity within adult MDS/AML patients. We found three variants in I DDX41 i (p.R525H, p.G530D and p.Y259C) and confirmed the germline origin of p.Y259C of I DDX41 i by Sanger sequencing. [Extracted from the article]

Overall survival (OS) (A) and OS censored at the time of transplantation (B) of 24 relapsed pediatric B-ALL patients with mean VAF >=20% versus patients with mean VAF < 20% at relapse. Moreover, in 18 patients with remission-relapse pairs, VAF was significantly increased in relapsed patients, indicating delta VAF can be used to evaluate patients for recurrence ( I p i < 0.001) (Figure 2B). (C) Comparison of VAFs at three different relapse stages in 24 relapsed patients, including very early, early and late relapse stage. [Extracted from the article]

The IK6 isoform plays an important role in Philadelphia chromosome-positive adult acute lymphoblastic leukemia (Ph + ALL). This study was designed to monitor the expression of the IK6 isoform with associated cytogenetic and molecular abnormalities. The IK6 isoform, cytogenetic and molecular abnormalities were detected in 100 Chinese patients with de novo Ph+ adult ALL. Expression levels of the IK6 isoform and BCR-ABL1 transcripts were monitored during treatment. BCR-ABL1 mutation was identified in 45 paired samples. Strong correlations were found between the expression status of the IK6 isoform and blast cells, additional cytogenetic abnormalities, BCR-ABL1 transcripts, increased risk of relapse, shorter relapse-free survival and overall survival at diagnosis. Higher frequencies of single IK6 expression and ABL mutation, including the types and shifts thereof, were confirmed in relapsed patients. Furthermore, expression of the IK6 isoform was dynamically consistent with BCR-ABL1 transcript levels during treatment in the single expression group, whereas no such correlation was observed in the co-expression group. The expression pattern of the IK6 isoform was altered in three patients from the co-expression group. The findings of this study in Chinese patients with Ph+ adult ALL exhibit some discrepancies with data reported in other countries, thereby enhancing current knowledge on the therapeutic response and prognosis of this disease. [ABSTRACT FROM AUTHOR]

Abstract: We have studied forty Chinese adult ALL patients at newly diagnosis, using standard primers and protocols of BIOMED-2 multiplex PCR, to determine the feasibility of Ig and TCR gene rearrangements as diagnostic and patient-specific MRD-RQ-PCR targets for molecular monitoring. Clonal IGH, IGK, IGL, TCRB, TCRG and TCRD rearrangements were found in 86%, 22%, 9%, 19%, 77%, 55% of adult patients with B-lineage ALL, respectively. While in T-ALL, clonal IGH, TCRB, TCRG and TCRD rearrangements were detected in 6%, 83%, 78%, 33% of patients. Several specialties in the pattern of Ig/TCR gene rearrangements in Chinese adult ALL patients in comparison with those reported for children and adult patients in other countries have been noted. These results are useful for further MRD-RQ-PCR detection and quantification for all patients. [Copyright &y& Elsevier]