Acute bilineal leukemia

We examined 3 pediatric patients with bilineal acute leukemia. Patient 1 with B-cell acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML) with B-ALL dominance responded well to prednisolone and ALL-type induction therapy. Patients 2 and 3 with T-ALL and AML with AML dominance responded poorly to prednisolone. Patient 2 was resistant to AML-type therapy; patient 3 was resistant to ALL-type induction therapy until day 15. However, all 3 patients eventually achieved complete remission after ALL-type induction therapy. Thus, ALL-type induction therapy should be initiated for bilineal acute leukemia even with AML-dominant, poor prednisolone response, or poor early response features.

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease that accounts for 5-10% of end-stage renal disease in developed countries. Mutations in PKD1 and PKD2 account for a majority of cases. Mutation screening of PKD1 is technically challenging largely due to the complexity resulting from duplication of its first 33 exons in six highly homologous pseudogenes (i.e. PKD1P1-P6). Protocol using locus-specific long-range and nested PCR has enabled comprehensive PKD1 mutation screening but is labor-intensive and costly. Here, the authors review how recent advances in Next Generation Sequencing are poised to transform and extend molecular diagnosis of ADPKD. Areas covered: Key original research articles and reviews of the topic published in English identified through PubMed from 1957-2017. Expert commentary: The authors review current and evolving approaches using targeted resequencing or whole genome sequencing for screening typical as well as challenging cases (e.g. cases with no detectable PKD1 and PKD2 mutations which may be due to somatic mosaicism or other cystic disease; and complex genetics such as bilineal disease).

The present study was focused on leukemia bilineality is triggered by a subclonally derived genetic aberration driving the transdifferentiation or reprogramming of individual subclones and transforming leukemia that was originally uniform into bilineal leukemias. High-throughput genomic methods to analyze the genomic landscape of immunophenotypically distinct subpopulations in 2 bilineal leukemia patients, whole transcriptome sequencing and whole exome sequencing in addition, bulk leukemic samples were analyzed with whole genome single nucleotide polymorphism arrays. Single nucleotide polymorphism arrays detected copy number aberrations in MTAP, CDKN2A, and CDKN2B genes and uniparental disomy was associated with bilineal leukemia and acute lymphoblastic leukemia patients. Immunophenotypically heterogeneous leukemic populations derived from an identical founder cell, but multiple leukemic cells possess the potential to differentiate into very distinct cell types.