CASE REPORTS in HAEMATOLOGY (Paper co-edited with the European LeukemiaNet)

t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML

Written	2018-01	Adriana Zamecnikova
		Kuwait Cancer Control Center, Kuwait annaadria@yahoo.com

Clinics

Age and sex :	25 year(s) old female patient.
Previous History :	preleukemia
	no previous malignant disease
	no inborn condition of note

Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement

Blood

WBC : 20 x 109/L ; Hb : 86 g/dL ; platelets : 14 x 109/L; blasts : 12 % .

Bone marrow : Hyperplastic bone marrow with dyserythropoiesis, megaloblastic erythropoiesis, presence of multinuclear forms, depressed megakaryocytes and 23% blasts.

Cyto pathology classification

Phenotype : Acute myeloid leukemia

Immunophenotype : Positive for CD13, CD33, CD34, HLDR, CS45, CD11b, MPO and CD64, dim expression of CD14 and CD117.

Precise diagnosis : AML with t(3;3)(q21;q26.2)

Survival

Date of diagnosis: 12-2017

Complete remission : None

Karyotype

Sample : bone marrow ; culture time : 24 h ; banding : G-banding

Results : 45,XX,t(3;3)(q21;q26.2),t(6;17)(p21;p13),-7[14]/45,XY,t(3;3)(q21;q26.2),-7[4]/ 46,XX [2]

Other molecular cytogenetics technics : Fluorescence in situ hybridization studies (FISH) were performed using Kreatechô MECOM (EVI1) t(3;3); inv(3)(3q26) Break FISH probe and SureFISH 17p13.3 (PAFAH1B1) and RUNX2 (6p21.1) probes.

Other molecular cytogenetics results : Hybridization with EVI1 probe confirmed the rearrangement of the gene as a result of t(3;3)(q21;q36.2) on 10 metaphases and in 90 % of interphase cells. Hybridization with Vysis D7S486/ Vysis CEP 7 probe showed monosomy 7 in 90% of cells. FISH studies with SureFISH PAFAH1B1 and RUNX2 probes showed normal signals on 2 metaphases without t(6;17) and juxtaposition of PAFAH1B1 from 17p13.3 to 6p21.1 at the site of RUNX2 gene in 5 metaphases.

Figure 1. Karyotype of the patient with t(3;3)(q21;q26.2) and -7 (A) and with t(6;17)(p21;p13) as an additional anomaly (B).

Figure 2. (A) Fluorescence in situ hybridization with Kreatechô MECOM (EVI1) break apart probe confirmed the rearrangement of the gene as a result of t(3;3)(q21;q36.2). FISH studies with SureFISH PAFAH1B1 located at 17p.13.3 revealed juxtaposition of PAFAH1B1 from 17p13.3 to der(6) chromosome (B). Simultaneous hybridization with SureFISH PAFAH1B1 and RUNX2 probes showed cohybridization of PAFAH1B1 and RUNX2 genes on 6p21.1 (C).

Comments

We described here an AML patient with t(3;3)(q21;q26.2) associated with monosomy 7 and a rare translocation t(6;17)(p21;p13) (La Starza et al., 26). The chromosomal t(6;17)(p21;p13) was found in a  sideline as an additional anomaly to t(3;3)(q21;q26.2) and monosomy 7, therefore likely representing a secondary aberration to these primary anomalies. inv(3)(q21q26.2) or t(3;3)(q21;q26.2) in AML or MDS result in deregulation of the proto-oncogene EVI1 (MECOM), which affect the RAS/receptor tyrosine kinase pathway. The concomitant monosomy 7 and t(6;17)(p21;p13) are probably cooperating genetic lesions that developed during malignant transformation processes in our patient.

Internal links

Atlas Card	t(6;17)(p21;p13)
Case Report	t(6;17)(p21;p13) and acquisition of the Philadelphia chromosome translocation with p190 BCR-ABL1 transcript during the course of myelodysplastic syndrome

Bibliography

Genomic gain at 6p21: a new cryptic molecular rearrangement in secondary myelodysplastic syndrome and acute myeloid leukemia.

La Starza R, Aventin A, Matteucci C, Crescenzi B, Romoli S, Testoni N, Pierini V, Ciolli S, Sambani C, Locasciulli A, Di Bona E, Lafage-Pochitaloff M, Martelli MF, Marynen P, Mecucci C

Leukemia 2006 Jun;20(6):958-64.

PMID 16617324

Citation

This paper should be referenced as such :

Zamecnikova A

t(6;17)(p21;p13) associated with t(3;3)(q21;q26.2) in AML

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Reports/t0617p21p13AdrianaMECOMID100092.html

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