Scientific journal
European Journal of Natural History
ISSN 2073-4972

DERIVATE DER (9) AS UNIQUE CYTOGENETIC ANOMALY IN A ACUTE MYELOID LEUKAEMIA FOR AML – M4: A CASE REPORT

Sokolova T.A., Olchovik T.I., Ivanovskaya O.V., Savyak L.N., Kotlovski Y.V., Kuznetsova E.

As far as we know, it is the first case of disease at an acute myeloleukemia (М4), which is described with the given anomaly der (9), as a unique not casual marker of an acute leukosis.

Cases i (9) have been described at an acute lymphoid leukosis (Martineau M, end att., 1996).

Disease cases by the Acute lymphoid leukosis at children with a syndrome of Down in which additional chromosomal reorganization i (9) has been found out have been described (Kalwinsky DK, et att., 1990).

The aberration der (9) as a cytogenetic marker has been described repeatedly at a myelosis at patients (Bennour A. and ett., 2011, Huh J. and ett., 2011).

The present history the first where the mutation der (9) as unique cytogenetic anomaly is described at an acute myeloleukemia (М4) (FAB-classification).

We represent to your attention the previous history:

No preleukaemia

Clinics

AGE (d: 12; m: 10; y: 59)

SEX M

ENLARGED LIVER (-)

ENLARGED SPLEEN (-)

ENLARGED LYMPH NODES (-)

CENTRAL NERVOUS SYST INVOLVED - Condition of the expressed asthenia

Blood Data

WBC (10´9/l) 2,7

Hb (g/dl) 13,5

PLATELETS (10×9/l) 117

BLASTS (%) 0

BONE MARROW 41,4%

Cyto-Pathological Classification

Phenotype (FAB): AML-M4

Immunophenotype (as CD): not done

Rearranged Ig or Tcr: not done

Pathology: Punctate nonuniformly cellular at the expense of granulocytes with blasts to 41,4%, promyelocytes - 19,2% difficultly differentiated with blasts. Half of blasts contains azurophilic granularity, In individual blasts - sticks of Auer. It was not possible to find out megacaryocytes. According to cytochemistry: a peroxidase negative (in dynamics - positive 7%), lipids - poorly positive 26%.

Electron microscopy: not done

Precise diagnosis: AML-M4, the first attack

Survival Data

DATE OF DIAGNOSIS (04/2011)

TREATMENT according to report «7 + 3»: (Cytarabine 100 mg/m2 - 7d.; Daunorubicine 60 mg/m2 - 3d.)

COMPLETE REMISSION None

DEATH RELATED WITH TREATMENT None

RELAPSE None

IF RELAPSE: PHENOTYPE None

ALIVE

SURVIVAL 8 month

Karyotype

SAMPLE: Bone Marrow

CULTURE TIME 24 h and 48-hours without stimulating agents

BANDING G-band

DETAILED COMPLETE RESULTS (using ISCN) 46,XY [18], der (9) [1]

KARYOTYPE(S) AT RELAPSE(S): 46, XY [20]

Molecular Cytogenetics

TECHNICS: Multiplex PCR

RESULTS: Anomalies it is not revealed

Other Molecular Studies: None

Other Findings: None

Comments

Even the insignificant quantitative clone of abnormal cells can dictate leukemia implications, let in the erased clinical variant, but with the satisfactory forecast for a survival. Moreover, it can be interesting in respect of etiology and forecast studying at an acute leukemia (AML-M4).

CALL FOR COLLABORATION

References

  1. Clinical and biological characteristics of acute lymphocytic leukemia in children with Down syndrome / D.K. Kalwinsky, S.C. Raimondi, N.J. Bunin, D. Fairclough, C.H. Pui,M.V. Relling, R. Ribeiro, G.K. Rivera // American journal of medical genetics. Supplement. - 1990. - №7. - Р. 267-271.
  2. Isochromosomes in acute lymphoblastic leukaemia: i(21q) is a significant finding / M. Martineau, R. Clark, D.M. Farrell, J.M. Hawkins, A.V. Moorman, L.M. Secker-Walker // Genes, chromosomes & cancer. - 1996. - №17 (1). - Р. 21-30.
  3. Molecular cytogenetic study of derivative chromosome 9 deletion in chronic myeloid leukemia patients / A. Bennour, I. Ouahchi, Y. Ben Youssef, M. Zaier, M.A. Laatiri, I. Harrabi, B. Meddeb, M. Elloumi, A. Khelif, A. Saad, H. Sennana // Med Oncol. - 2011 Apr 3. [Epub ahead of print] PMID:21461967 [PubMed - as supplied by publisher].
  4. Genome-wide high density single-nucleotide polymorphism array-based karyotyping improves detection of clonal aberrations including der(9) deletion, but does not predict treatment outcomes after imatinib therapy in chronic myeloid leukemia / J. Huh, C.W. Jung, J.W. Kim, H.J. Kim, S.H. Kim, M.G. Shin, Y.K. Kim, H.J. Kim, J.S. Suh, J.H. Moon, S.K. Sohn, G.H. Nam, J.E. Lee, D.H. Kim // Ann Hematol. - 2011 Nov. - №90(11). - Р. 1255-64. Epub 2011 Mar 8. PMID: 21384125 [PubMed - indexed for MEDLINE].

The work is submitted to the Scientific International Conference «Practitioner», Italy, September, 6-13, 2012, came to the editorial office оn 19.06.2012.