20.05.2018 - 13:00 Author:
Mari Kaunisto

FIMM Monthly Publication Highlight April 2018: Genetic heterogeneity between anatomically distinct bone marrow compartments in AML

A research team led by Professor Olli Kallioniemi has performed the first study investigating genomic heterogeneity of acute myeloid leukemia (AML). The researchers identified somatic mutations unique to individual bone marrow compartments and showed that multiple sampling helps to delineate potential clonal evolution pathways.

Every month we publish a publication highlight that summarises some of the research taking place at FIMM. 

The results of this work were recently published in Leukemia and Lymphoma.

The main goal of the study was to investigate whether subclonal genomic heterogeneity between anatomically distinct bone marrow compartments in AML exists. In solid tumors, there is extensive evidence of intratumoral heterogeneity between distinct tumor regions and metastatic sites but very little is still known about subclonal heterogeneity in AML.

The research team performed exome and amplicon sequencing of biopsies obtained from two patients taken from three distinct bone marrow compartments.Based on the allele frequencies of the identified mutations, the cancer cell lineages and subclonal compositions were then inferred. Mutations were validated using ultra-deep amplicon sequencing. The sequencing experiments were done at the sequencing unit of the FIMM Technology Centre.

The results showed that some of the identified mutations were unique to individual bone marrow compartments whereas most were shared between multiple compartments.


Our results indicate that genetic heterogeneity exists to a certain degree between anatomically distinct bone marrow compartments, adding a new dimension to the complexity of the disease.

Poojitha Ojamies, first author of the paper


These observations have important clinical relevance. Further investigation into site-dependent genetic heterogeneity could have significant clinical impact on diagnosis and treatment choices of AML.


Original publication:

Ojamies PN, Kontro M, Edgren H, Ellonen P, Heckman C, Porkka K, Wolf M, Kallioniemi O. Case studies investigating genetic heterogeneity between anatomically distinct bone marrow compartments in acute myeloid leukemia. Leuk Lymphoma. 2018 Apr 4:1-4. doi: 10.1080/10428194.2018.1453067.

Last updated: 04.07.2018 - 12:59