with flowcytometry, cytogenetic and molecular biology findings
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Myeloid neoplasms with germline RUNX1 mutation

BM MGG (1000×)

This image shows a neoplastic promonocyte (red arrow) and abnormal monocytes (yellow arrows).

BM MGG (1000×)

Promonocytes (red arrows) have irregular nuclei with fine chromatin and their nucleoli are not prominent, which distinguishes promonocytes from monoblasts (not shown in this image).

BM MGG (1000×)

Abnormal monocytes (red arrows).

BM MGG (1000×)

Abnormal monocytes (red arrows).

RUNX1 sequencing analysis

Results of exome sequencing analysis of one thrombocytopenia patient performed by massive parallel sequencing show an exonic heterozygous deletion of one nucleotide (C) in the RUNX1 gene resulting in a frameshift mutation. The grey lines represent individual reads of this patient. The black line shows the missing nucleotide.

RUNX1 sequencing analysis

Results of exome sequencing analysis of eight family members from one thrombocytopenia family showing that the first six family members carry an exonic heterozygous deletion (a pathogenic frameshift mutation), whereas the two remaining ones do not. The rows show individual family members, grey columns represent individual nucleotides. This heterozygous deletion is visualised as a height decrease of a grey column compared with two neighbouring columns.

Atlas of Haematological Cytology [online]. 2016 [cit. 2024-3-28]. Available from WWW: http://www.leukemia-cell.org/atlas.

2024 CELL - Atlas of Haematological Cytology | site map