-

-

-

18 yrs

F

-

-

-

-

1.3 (neut 0.1x10⁹/L);

7.4

55

The marrow smears showed heavily infiltrated with medium sized cells, which are round, have minimal lightly basophilic agranular cytoplasm and inconspicuous nucleoli, with partially clumped nuclear chromatin. Some of the nuclei appear cleaved or folded. A minority of the cells has very immature chromatin and/or prominent nucleoli, and are more classically blasts. There are no Auer rods in either population. Very minimal evidence of maturing granulopoiesis and erythropoiesis is seen. Granulopoesis appears to have normal granulation. Erythropoiesis appears normoblastic and not grossly dysplastic. Some of the mature neutrophils appear dysplastic with abnormal nuclear stranding. Megakaryocytes are not seen.

AML with recurrent cytogenetic translocations

CD45lo/ SSClo blasts account for 61.2% of total BM intact single cells. Positive for: CD34, CD33, CD15, CD38, CD56, HLADR. By intracellular staining, these cells were entirely cCD34+ and 45% were cMPO+. These cells were negative for: TdT, cCD3- and cCD79a-.

Not performed

Not performed

Not performed

Common Acute Myeloid Leukaemia.

05-2017

according to FLAG-Ida chemotherapy protocol.

+ Complete remission was obtained on 06/2017

-

-

A

08-2019

26

Bone marrow

24

GTG

46,XX[20] - All 20 G-banded metaphase cells analysed showed a female karyotype with no apparent cytogenetic abnormalities.

3. The target myeloid gene panel TruSight on a MiSeq platform (Illumina, USA) was used to screen mutational hotspots of 54 cancer-related genes relevant in myeloid malignancy as before (Boneva et al., 2017). Gene variances were reported at allele frequencies (VAF) >10% and at minimum read depth of 300 as per manufacturers criteria. We used the Catalogue of Somatic Mutations In Cancer (COSMIC), dbSNP and 1000 genome (>2%) to classify gene variants as either drivers, variants of unknown significance and/or germline polymorphisms (SNPs). Genome addresses are given according to hg19 (GRCH37).

Variants: The only mutation identified in this sample is a missense variance of the RUNX1 gene (NP_001745.2:p.Gly372Ser at 36164761) which is reported SNV which is predicted to be tolerated (http://cancer.sanger.ac and http://www.ncbi.nlm.nih. gov/SNP) and therefore considered indicative for disease only in the presence of cell morphology and immunophenotyping evidence (Genovese et al., 2014; Cargo et al., 2015 and reviewed in Steensma, 2018).

The presented case provides further support to the investigative power of CMA and a reminder for the existence of rare and possibly recurrent 5 KMT2A -3 CBL fusion gene in adult AML.