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(Paper co-edited with the European LeukemiaNet)
t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia.
Written2015-01Nicolas Duployez, Stéphanie Struski, Catherine Roche-Lestienne
Institut 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.;;
Age and sex : 86 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 61 x 109/L ((neutrophils  0.2 x 109/l)); Hb : 9.2 g/dL ; platelets : 60 x 109/L; blasts : 10 % (blasts = 6.1 x 109/l (Blood)).
Bone marrow : 80% blasts (with features of monocytic lineage)
Cyto pathology classification
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.
Date of diagnosis: 02-2014
Treatment : Because of high advanced age, the treatment was based on transfusions and HYDREA® to control leukocytosis and cytopenias.
Complete remission : None
Treatment related death : -
Relapse : -
Status : Alive 03_2014
Sample : Bone marrow ; culture time : 48 h ; banding : GTG
Results : 48,XY,t(11;17)(p15;q21),+mar x2[23]/49,sl,+13[1].
Other molecular cytogenetics technics : FISH
Other molecular cytogenetics results : 48,XX,t(11;17)(p15;q21). ish t(11;17)(5'NUP98+;3'NUP98+)[2]
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
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.
Internal links
Atlas Cardt(11;17)(p15.5;q21)
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, Heim S, Blennow E, Borgström G, Holmgren G, Heinonen K, Johannsson J, Kerndrup G, Andersen MK, Lundin C, Nordgren A, Rosenquist R, Swolin B, Johansson B; Nordic Society of Paediatric Haematology and Oncology (NOPHO); Swedish Cytogenetic Leukaemia Study Group (SCLSG); NOPHO Leukaemia Cytogenetic Study Group (NLCSG).
Br J Haematol. 2003 May;121(4):566-77.
PMID 12752097
11p15 translocations involving the NUP98 gene in childhood therapy-related acute myeloid leukemia/myelodysplastic syndrome.
Nishiyama M, Arai Y, Tsunematsu Y, Kobayashi H, Asami K, Yabe M, Kato S, Oda M, Eguchi H, Ohki M, Kaneko Y.
Genes Chromosomes Cancer. 1999 Nov;26(3):215-20.
PMID 10502319


This paper should be referenced as such :
Duployez N, Struski S, Roche-Lestienne C
t(11;17)(p15;q21) involving the NUP98 gene is a rare event in adult acute myeloid leukemia.
Atlas Genet Cytogenet Oncol Haematol. in press
On line version :

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