t(4;11)(q23;p15) in paediatric early T cell precursor acute lymphoblastic leukemia.

S Anurag Gupta, Sirisharani Siddaiahgari, Nagaraju Nalla, Mukkanteeswara Rao Kasaragadda, Manu Goyal  

Department of Hematopathology and Genetics, AMPATH, Nallagandla, Serilingampally Hyderabad, Telangana, India 500019 (AG, NN, MRK, MG); Department of Paediatric Oncology, Rainbow Children s Hospital, Karvy Lanes, Banjara Hills, Hyderabad, Telangana, India - 500 034 (SS); dr.anuraggupta30@gmail.com.

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
12 yrs
Sex
F
Liver
+ 3 cms below right costal margin
Spleen
+ 3 cms below left costal margin
Lymph nodes
+ Cervical lymphadenopathy
Cns involv
-

Blood data

Wbc
1.49
Hb
6.6
Platelets
1.9
Blasts
2
Bone marrow
30%; Hypocellular and aparticulate bone marrow aspirate smears and show presence of 30% blasts.

Cyto path

Phenotype
L1
Immunophenotype
The blast cells were dim CD45 positive and expressed moderate CD34, CD38, CD7, CD33, dim CD2, partially CD117 and dim cytoplasmic CD3. These cells are negative for CD19, CD10, CD20, HLADR, CD4, CD8, surface CD3, CD5 and CD1a.
Rearranged ig tcr
Not done
Pathology
Acute lymphoblastic leukemia
Electron microscopy
Not done
Precise diagnosis
Early T cell precursor Lymphoblastic leukemia.

Survival data

Date diagnosis
12-2015
Treatment
High risk BFM 95
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
11-2017
Survival
24+

Karyotype

Sample
Bone marrow aspirate
Culture time
17 overnight with and without colcemid
Banding
GTG
Results
46,XX,t(4?11)(q23?p15)[09]/46,XX[11]
Mol cytogenet technics
Fluorescence in situ hybridisation was done on bone marrow culture pellet using NUP98 break apart probe, Zytovysion, Fischai, Bremerhaven, Germany.
Mol cytogenet results
Positive for rearrangement of the NUP98 gene in 34% of the cells.

Other findings

Note
Negative for BCR/ABL1 fusion, ETV6/RUNX1 fusion, KMT2A gene rearrangement and E2A gene rearrangement by FISH.

Images

Atlas Image
Figure 1: Karyogram showing t(4;11)(q23?p15) GTG staining and banding method × 100 oil immersion, Carl Zeiss Axios cope and processed using IKAROS software)
Atlas Image
Figure 2: FISH using NUP98 break apart probe, Zytovysion, Fischai, Bremerhaven, Germany.

Comments section

Comments
ACKNOWLEDGEMENTS: The authors wish to acknowledge Ms. Emily-Jane Rüschendorf and her scientific team at Zytovysion, Fischai, Bremerhaven, Germany for their support in performing FISH for NUP98 on this case.

Article Bibliography

Pubmed IDLast YearTitleAuthors
34558281986Chromosomal abnormalities identify high-risk and low-risk patients with acute lymphoblastic leukemia.Bloomfield CD et al
113256542001Molecular evaluation of the NUP98/RAP1GDS1 gene frequency in adults with T-acute lymphoblastic leukemia.Cimino G et al
191474082009Early T-cell precursor leukaemia: a subtype of very high-risk acute lymphoblastic leukaemia.Coustan-Smith E et al
38425671985A variant translocation between chromosomes 4 and 11, t(4q;11p) in a child with acute leukemia.Inoue S et al
109290312000t(4;11)(q21;p15) translocation involving NUP98 and RAP1GDS1 genes: characterization of a new subset of T acute lymphoblastic leukaemia.Mecucci C et al
19911611991Clinical characteristics and treatment outcome of childhood acute lymphoblastic leukemia with the t(4;11)(q21;q23): a collaborative study of 40 cases.Pui CH et al
296849342018[Optimal Medical Therapy and Secondary Prevention in Patients after an Acute Coronary Syndrome].Stähli BE et al

Citation

S Anurag Gupta, Sirisharani Siddaiahgari, Nagaraju Nalla, Mukkanteeswara Rao Kasaragadda, Manu Goyal

t(4;11)(q23;p15) in paediatric early T cell precursor acute lymphoblastic leukemia.

Atlas Genet Cytogenet Oncol Haematol. 2018-03-01

Online version: http://atlasgeneticsoncology.org/case-report/208892/js/css/gene-explorer/