Two novel cases of NUTM1‐rearranged B‐cell acute lymphoblastic leukaemia presenting with high‐risk features.

(D) Analysis of deletions in key B-ALL genes in Case 1 were identified by multiplex ligand-dependent probe amplification (MLPA) on BM TWC using probes sets P202-erg and (E) P335 respectively. Congenital B-ALL, adult B-ALL, NUTM1-rearranged, CRLF2-rearranged, B-cell acute lymphoblastic leukaemia (B-ALL) (D) Analysis of deletions in key B-ALL genes in Case 2 were identified by multiplex ligand-dependent probe amplification (MLPA) on BM MNC using probes sets P202-erg and (E) P335 respectively. Keywords: B-cell acute lymphoblastic leukaemia (B-ALL); congenital B-ALL; adult B-ALL; NUTM1-rearranged; CRLF2-rearranged EN B-cell acute lymphoblastic leukaemia (B-ALL) congenital B-ALL adult B-ALL NUTM1-rearranged CRLF2-rearranged 1407 1411 5 03/22/22 20220315 NES 220315 Rare recurrent chromosomal rearrangements involving 15q13-15 have been reported in paediatric B-cell acute lymphoblastic leukaemia (B-ALL), occurring with higher frequency in infant than non-infant B-ALL.1 High-throughput sequencing identified these as NUT midline carcinoma family member 1 ( I NUTM1 i ) (15q14) rearrangements ( I NUTM1 i -r).2-7 I NUTM1 i -r were originally identified as the driving lesion of NUT midline carcinomas (NMC), an aggressive malignancy with poor prognosis.8 I NUTM1-r i infant B-ALL however is associated with favourable prognosis,3,9 in contrast to infants with I KMT2A i rearrangements.10 Multiple 5' partners have been identified in I NUTM1 i -r B-ALL including I BRD9 i , I IKZF1 i , I CUX1 i , I AFF1 i , I ZNF618 i , I SLC12A6 i , and the cytogenetically cryptic I ACIN1 i .6 I NUTM1 i -r increases I NUTM1 i expression,3-6 upregulates I HOX1 i family genes5 and downregulates I NOTCH i and Hedgehog pathways.5 Rare cases of infant B-ALL that co-harbour I KMT2A- i r and I NUTM1 i -r have been reported2,6 and no cases of adult I NUTM1 i -r B-ALL have been identified. [Extracted from the article]