t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia.
2015-01-01 S Nicolas Duployez, Stéphanie Struski, Catherine Roche-Lestienne AffiliationInstitut de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU Lille (ND, CRL); Institut Universitaire du Cancer Toulouse Oncopole, Laboratoire d Hématologie /Plateau Technique Hématologie-Oncologie, bâtiment B, 1 avenue Irène Joliot-Curie, 31059 TOULOUSE Cedex 9 (SS), France. [email protected]; [email protected]; [email protected]
Previous history
Preleukaemia
-
Malignant disease
-
Inborn condition
-
Clinics case report
Age
86 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-
Blood data
Wbc
61 (neutrophils 0.2 x 109/l)
Hb
9.2
Platelets
60
Blasts
10% blasts = 6.1 x 109/l (Blood)
Bone marrow
80% blasts (with features of monocytic lineage)
Cyto path
Phenotype
M5b-AML
Immunophenotype
blasts CD34-, HLA-DR+ (78%), CD33+ (99%), CD13+ (99%), CD14+ (98%), CD15+ (95%)
Rearranged ig tcr
Not performed.
Pathology
Acute myeloid leukemia, not otherwise specified (AML-NOS).
Electron microscopy
Not performed.
Precise diagnosis
Acute monocytic leukemia subtype.
Survival data
Date diagnosis
02-2014
Treatment
Because of high advanced age, the treatment was based on transfusions and HYDREA® to control leukocytosis and cytopenias.
Complete remission
-
Treatment relat death
-
Relapse
-
Status
A
Date last follow
03_2014
Survival
-
Karyotype
Sample
Bone marrow
Culture time
48
Banding
GTG
Results
48,XY,t(11;17)(p15;q21),+mar x2[23]/49,sl,+13[1].
Mol cytogenet technics
FISH
Mol cytogenet results
48,XX,t(11;17)(p15;q21). ish t(11;17)(5 NUP98+;3 NUP98+)[2]
Images
Partial GTG-banding karyotype of the t(11;17)(p15;q21)
Implication of NUP98 in the t(11;17) by FISH, using RP11-120E20 (3 NUP98, in red) and RP11-438N5 (5 NUP98, in green)BACs probes. Arrows indicate the der(11) and der(17) chromosomes
Comments section
Comments
To the best of our knowledge, only three cases of paediatric AML with the t(11;17)(p15;q21) have been reported (Nishiyama et al, 1999; Forestier et al, 2003). Here we describe a case in a 86 year old man with acute monocytic leukemia. FISH analysis showed the implication of the nucleoporin 98 (NUP98) gene, located on chromosome 11p15. Considering the frequent formation of NUP98/HOX chimaeras in haematological malignancies [i.e. t(7;11)(p15;p15), t(11;12)(p15;q23) and t(2;11)(q31;p15) leading to the fusion of the NUP98 gene with HOXA, HOXC and HOXD clusters respectively], the t(11;17)(p15;q21) is likely to involve the HOXB cluster in 17q21.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12752097 | 2003 | Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all children enrolled in the NOPHO-93-AML trial between 1993 and 2001. | Forestier E et al |
| 10502319 | 1999 | 11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome. | Nishiyama M et al |
Citation
S Nicolas Duployez, Stéphanie Struski, Catherine Roche-Lestienne
t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia.
Atlas Genet Cytogenet Oncol Haematol. 2015-01-01
Online version: http://atlasgeneticsoncology.org/case-report/208880/teaching-explorer/tumors-explorer/new-content/humanGenome
