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These granules, negative to the myeloperoxidase cytochemistry reaction, were found in a median of 5% (range 0-70%) of blasts in I BCR/ABL1 i -like, 0% (range 0-50%) in I BCR/ABL1 i + and 0% (range 0-54%) in non I BCR/ABL1 i -like, respectively (Mann-Whitney I p i =.01 for I BCR/ABL1 i -like I vs. Finally, 67% of I BCR/ABL1 i -like cases underwent an allogeneic hematopoietic stem cell transplantation compared to 33% of I BCR/ABL1 i + cases and 10% of non I BCR/ABL1 i -like cases, confirming the high-risk features of the I BCR/ABL1 i -like subgroup. We selected 36 I BCR/ABL1 i + ALL and, from a cohort of B-lineage ALL negative for the common transcripts ( I BCR/ABL1 i , I KMT2A/AF4 i , I KMT2A/ENL i , I ETV6/RUNX11 i , I E2A/PBX1 i ), 34 I BCR/ABL1 i -like, and 31 non I BCR/ABL1 i -like ALL, identified by the I BCR/ABL1 i -like predictor. Ph-like acute lymphoblastic leukemia ( I BCR/ABL1 i -like ALL) is a subset of B-lineage ALL with a gene expression profile (GEP) similar to that of I BCR/ABL1 i -positive ( I BCR/ABL1 i +) ALL, but lacking the I BCR-ABL1 i fusion protein derived from the t(9;22)(q34;q11) translocation [[1]]. [Extracted from the article]

The median age of I ZNF384-r i patients was 43 years (range 18-64), 47% were female and 53% male; the median WBC count was 4.82 × 10 SP 9 sp /L (range 1-54.9), while the median platelet count was significantly higher in I ZNF-384 i -r patients compared to the remaining cases (176 B × b 10 SP 9 sp /L vs 49 × 10 SP 9 sp /L, I p i <.001) (Table S2, Supplemental Material). We identified 17 (9.2%) patients with I ZNF384- i r, involving different partner genes: the most frequent fusion was I ZNF384-EP300 i ( I n i = 9), followed by I ZNF384-TAF15 i ( I n i = 4) I ZNF384-TCF3 i ( I n i = 2) and I ZNF384-ARID1B i ( I n i = 1). Rearrangements involving I ZNF384 i ( I ZNF384-r i ) were described in B/myeloid mixed phenotype acute leukemia (B/MPAL) [[9]] and in Ph- B-ALL; in the latter, at least 15 partner genes were identified ( I EWSR1 i , I TAF15 i , I TCF3 i , I EP300 i , I SYNRG i , I CREBBP i , I BMP2K i , I SMARCA2, CLLORF74, CCAR1, CLTC, DUX4, NIPBL, SEC24B and ARID1B i ) [[10]]. ZNF384 rearrangement is the most frequent genetic lesion in adult PH-negative and Ph-like-negative B-other acute lymphoblastic leukemia. [Extracted from the article]

In Ph+ acute lymphoblastic leukaemia (Ph+ ALL), minimal residual disease (MRD) is the most relevant prognostic factor. Currently, its evaluation is based on quantitative real‐time polymerase chain reaction (Q‐RT‐PCR). Digital droplet PCR (ddPCR) was successfully applied to several haematological malignancies. We analyzed 98 samples from 40 Ph+ ALL cases, the majority enrolled in the GIMEMA LAL2116 trial: 10 diagnostic samples and 88 follow‐up samples, mostly focusing on positive non‐quantifiable (PNQ) or negative samples by Q‐RT‐PCR to investigate the value of ddPCR for MRD monitoring. DdPCR BCR/ABL1 assay showed good sensitivity and accuracy to detect low levels of transcripts, with a high rate of reproducibility. The analysis of PNQ or negative cases by Q‐RT‐PCR revealed that ddPCR increased the proportion of quantifiable samples (p < 0.0001). Indeed, 29/54 PNQ samples (53.7%) proved positive and quantifiable by ddPCR, whereas 13 (24.1%) were confirmed as PNQ by ddPCR and 12 (22.2%) proved negative. Among 24 Q‐RT‐PCR‐negative samples, 13 (54.1%) were confirmed negative, four (16.7%) resulted PNQ and seven (29.2%) proved positive and quantifiable by ddPCR. Four of 5 patients, evaluated at different time points, who were negative by Q‐RT‐PCR and positive by ddPCR experienced a relapse. DdPCR appears useful for MRD monitoring in adult Ph+ ALL. [ABSTRACT FROM AUTHOR]