Scientists at St. Jude Children’s Research Hospital, the American Society for Haematology (ASH) and the Munich Leukaemia Laboratory have developed a data-sharing platform that unites genomics, gene expression and clinical information from nearly 6,000 patients with blood cancers.

By integrating large paediatric and adult datasets, the ASH HematOmics Programme (ASHOP) provides one of the most comprehensive blood cancer data collections to date, with built-in analysis tools.

ASHOP enables researchers to explore these datasets together in a single open resource, accelerating discovery in haematological malignancies.

The platform and its initial findings were published today in Blood.

“Large genomic, transcriptomic and clinical datasets for blood cancers have been generated across many studies, but they have remained disconnected,” said senior co-corresponding author Xin Zhou, PhD, St. Jude Department of Computational Biology.

“ASHOP brings these data together into one accessible platform so researchers can look at haematological malignancies more holistically and analyse them deeper to make novel discoveries.”

The platform includes data from 5,960 patients across multiple blood cancers, including acute lymphoblastic leukaemia, acute myeloid leukaemia, myelodysplastic syndromes and chronic lymphocytic leukaemia.

It combines whole genome sequencing, whole transcriptome sequencing and connected clinical outcomes from these samples in one place.

Within the platform, users can leverage built-in tools to explore that data, whether looking at cancer types and subtypes, comparing patient groups, or investigating connected clinical outcomes, to perform complex analyses that were not possible before.

“ASHOP is much more than a collection of haematology data; it’s an interactive tool and resource that allows users to interrogate the data without the need for advanced coding skills,” said Robert Negrin, MD, ASH president.

“Genomic sequencing has been pivotal in driving advancements in hematologic conditions, and this database empowers the haematology community to explore genomic variants, interpret clinical correlations and uncover potential therapeutic targets.”

ASHOP can be accessed at https://ashop.haematology.org.

Platform reveals new insights into blood cancers from existing data

“Our vision is that ASHOP will provide a user-friendly portal for the sophisticated interrogation of genomic and associated data, not just from cancers, but eventually from the full range of haematological disorders,” said co-corresponding author Charles Mullighan, MBBS (Hons), MSc, MD, St. Jude Comprehensive Cancer Centre deputy director and Department of Pathology member.

“This study represents an important first step that shows the feasibility and power of the approach.” Using the ASHOP platform, the researchers showed how combining genetic and gene‑expression data can reveal important differences between patients that are not obvious otherwise.

In one example, they identified two developmental subgroups within a form of childhood B-cell leukaemia, one of which had more immature, inflammation‑associated cancer cells, specific gene mutations and worse outcomes.

In another example, they found that adult patients with NPM1‑mutated acute myeloid leukaemia could be divided into groups with different HOX gene activity, mutation patterns and levels of cell maturity, suggesting differences in disease behaviour and treatment resistance.

Together, these examples illustrate how the portal helps researchers uncover biologically and clinically meaningful leukaemia subtypes that may guide future research and patient care.

“With the rapid expansion of genomic and transcriptomic data, the challenge in haematology is no longer generating data, but integrating and interpreting it,” said co-corresponding author Ilaria Iacobucci, PhD, St. Jude Department of Pathology.

“The combined multi-omics and clinical data from the ASH HematOmics Programme enable new questions to be explored, advancing our understanding of haematological disease biology and therapeutic response.”

“Powered by the pioneering St. Jude team and ASH, the ASH HematOmics platform is an open and interactive resource that brings advanced integrative analyses of leukaemia to individual clinicians and researchers,” said co-corresponding author Torsten Haferlach, MD, PhD, Munich Leukaemia Laboratory.

“Munich Leukaemia Laboratory is proud to contribute data and expertise to help translate these rich genomic and clinical datasets into better insights and care for patients.”

Article: ASH HematOmics Program supports integrative analysis of genomic and clinical data in hematologic diseases

Source: St. Jude Children's Research Hospital