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Subspecialties Hematology, Oncology, Genetics and epigenetics, Software and hardware, Technology and innovation

Hematopathology? Hemato-technology!

Credit : NordForsk /

It seems like most subfields of pathology are benefiting from technological booms – but can the same be said of hematopathology? Well, we’ve taken a look at the American Society of Hematology Meeting and Exposition to find out.

Unmatched potential

Researchers have developed and demonstrated the effectiveness of an unmatched whole-genome sequencing (uWGS) workflow designed to detect alterations in leukemia across variant classes including copy number variations, translocations, and point mutations. Apparently, the uWGS workflow is capable of spotting events that were missed by matched WGS workflows – specifically, nine mutations across eight patients. The research indicates the need for further investigation into the uWGS workflow for clinical biomarkers (1).


One study has found that cfRNA analysis by NGS is significantly productive for use in liquid biopsy evaluation of lymphoid neoplasms, as it is able to provide information on the immunophenotype of lymphoid neoplasms. When the team investigated cfRNA’s potential, they found a “significantly higher” amount of B-cell markers – CD19, CD20, CD22, CD79A, and CD79B – than normal. When the data were paired with machine learning they produced lymphoid neoplasms diagnosis and classification with high accuracy (2).

Highest score in TetRS?

A study has described the clinical performance of a targeted rapid sequencing (TetRS) assay designed to use cerebrospinal fluid (CSF) to detect highly recurrent point mutations found in central nervous system (CNS) neoplasms. Out of 98 patients, 40 were eventually diagnosed with CNS neoplasm, and TetRS was able to detect point mutations in 15 out of the diagnosed cohort (37.5 percent). A number of cases that were detected by TetRS led to patients avoiding neurosurgical biopsy. There is promise, the authors conclude, for TetRS to offer rapid and accurate point mutation detection that is applicable to a wide range of CNS neoplasms (3).

A new kind of assay

Researchers have developed a DNA-based NGS assay for detection of MRD in NPM1m AML patients in the hope it may offer a standardized and highly sensitive alternative to standard RT-qPCR methods. The DNA-based assay showed high sensitivity and specificity and was reliably able to detect MRD-positive samples over a RT-qPCR threshold of 10 copies. The authors note that this required threshold is 10 times less than that of European LeukemiaNet’s definition for high-level MRD (4).

You can call MPAL

Using a blend of genomics and transcriptomics, a team has detailed the molecular characteristics found in adult patients with mixed phenotype acute leukemia (MPAL). Eight subgroups, each with distinctive mutation and gene expression, were found in adult MPAL patients – and distinct patterns were also present among different subtypes of MPAL. The CEBPA, DNMT3A, and NOTCH1 mutations had the greatest link to T/My MPAL in comparison with other MPALs. Conversely, RUNX1 was more common in Ph+ MPAL and NOTCH1 in B/T MPAL. In all, 74 mutated genes were identified with a variant allele frequency of more than 2 percent in 90.4 percent of patients, including 135 indels and 239 single nucleotide polymorphisms (5).

Digging into DS

One team has explored the use of differentiation scoring (DS) derived from Cellworks Computational Omics Biology Model (CBM) of a patient’s genomic aberrations to serve as a predictive biomarker for response to hypomethylating agents (HMA) in light of myelodysplastic syndrome (MDS). The study revealed thatbiosimulations based on patients’ individual genomic aberrations can show a range of DS among MDS patients. Non-responders had lower DS and survival than high-DS patients. Conversely, patients with low DS scores may have seen worse outcomes without HMA therapy. The data suggests that patients with low DS should be evaluated for novel combination therapy at diagnosis (6).

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  1. J Gutiérrez-Abril et al., “Unmatched Whole-Genome Sequencing As a Clinical Tool for Hematological Neoplasms with Significant Utility in Cases with Tumor-in-Normal Contamination.” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #495.
  2. M Albitar et al., “Liquid Immunophenotyping and the Diagnosis of Lymphoid Neoplasms Using Cell-Free RNA.” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #3488.
  3. M Gupta et al., “A Rapid Genotyping Assay for CSF Accelerates Diagnosis and Treatment Initiation for CNS Malignancies.” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #4802.
  4. LA Carvajal et al., “Development of a Standardized, DNA-Based Next Generation Sequencing Assay for Assessment of Measurable Residual Disease (MRD) in Acute Myeloid Leukemia (AML) As the Primary Endpoint in the Agility Study.” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #1463.
  5. Q Wang et al., “Integrative Genomic and Transcriptomic Profiling Reveals Distinct Molecular Subsets in Adult Mixed Phenotype Acute Leukemia” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #4146.
  6. M Castro et al., “Differentiation Scoring (DS) Derived from Cellworks Computational Omics Biology Model (CBM) Predicts Response to Hypomethylating Agents (HMA) and Patient Survival in Myelodysplastic Syndrome (MDS).” Presented at the 64th ASH Annual Meeting and Exposition; December 10, 2022; New Orleans, USA. Abstract #2171.
About the Author
George Francis Lee

Deputy Editor, The Pathologist

Interested in how disease interacts with our world. Writing stories covering subjects like politics, society, and climate change.

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