A rare presentation of BCR-ABL1 and RUNX1-MECOM rearrangement in a pediatric patient with acute myeloid leukemia.

Key Clinical Message: In a patient with de novo AML, co-existing isoform and rearrangement is accompanied by a very poor prognosis including limited response to treatment and no molecular remission. It is essential to develop a consensus on the therapeutic modalities different from the current regimen.

Abstract: Acquisition of fusion as a primary or secondary event and fusion independently is reported in de novo and therapy-related MDS/AML, albeit with low frequency (<0.

Favorable outcome of short isoform and mutation in a patient with several adverse prognostic markers: A case report.

Key Clinical Message: Complete molecular remission in a "variant APL" patient with short isoform of and mutation was achieved in response to ATRA and ATO plus IDA instead of standard treatment protocol. The use of inhibitor in APL induction management is implicated to prevent differentiation syndrome and coagulopathy experienced in in patients with

Abstract: mutations are the most common activating mutations in gene, occurring in about 12 to 38% of acute promyelocytic leukemia cases, and are mainly associated with high white blood cell counts and poor clinical outcomes. Here, we present a case of APL variant with adverse prognostic features who showed short isoform [bcr3] of and ITD mutation at diagnosis.

Fatal intracranial haemorrhage in acute promyelocytic leukemia patients with short isoform of PML-RARα: Review of molecular and radiological data.

Three major fusion gene transcripts (long [bcr1], variant [bcr2], and short [bcr3]) are currently used in clinical laboratories for the diagnosis and treatment monitoring of APL patients. Despite highly improved outcome, relapse and intracranial haemorrhage that may lead to early death is still an unsolved complication in APL. We reviewed APL patients confirmed by qPCR for the presence of PML-RARα transcripts (n = 27) and studied their outcome in relation to the isoform expression at diagnosis and follow-up in King Fahad Medical City.

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.

Biallelic variants in the USP53 gene have recently been reported to segregate with normal gamma glutamyltransferase (GGT) cholestasis. Using whole-exome sequencing (WES), we detected two USP53 homozygous variants (c.951delT; p.

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

Purpose: Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further delineate the ASNSD variant and phenotypic spectrum and determine the value of biochemical testing as a frontline investigation in ASNSD.