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CASE REPORTS in HAEMATOLOGY
The rare t(4;12)(q11;p13) in an elderly patient with de novo AML with multilineage dysplasia co-expressing stem cell markers
 
Written2002-08Sarah Moore, Sanjeev Chunilal, Jacqueline Beerworth
(1)SA Cancer Cytogenetic Unit, Institute of Medical & veterinary Science, Adelaide, South Australia ; (2)Department of Haematology, The Queen Elizabeth Hospital, Adelaide, South Australia ; e-MAIL sarah.moore@imvs.sa.gov.au
Clinics
Age and sex : 84 year(s) old female 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
Blood
WBC : 30.2 x 109/L ; Hb : 11.8 g/dL ; platelets : 189 x 109/L;
Bone marrow : 20
Cyto pathology classification
Cytology : (FAB) M2 with maturation; myeloid/stem cell
Immunophenotype : CD13+, CD33+, CD7+, CD34+, CD117+, HLA-DR+
Rearranged Ig Tcr : -
Pathology : Numerous mononuclear megakaryocytes. Active erythropoiesis. Active granulopoiesis, hypogranular neutrophils, giant band forms, donut nuclei, pseudo Pelger-Huet anomalies. Blasts have moderate nuclear: cytoplasmic ratio.
Precise diagnosis : de novo AML with multilineage dysplasia
Survival
Date of diagnosis: 03-2002
Treatment : Palliative treatment with oral etoposide
Complete remission : None
Treatment related death : -
Status : Dead 07-2002
Survival : 4 month(s)
Karyotype
Sample : Bone marrow ; culture time : 24 h ; banding : GTL
Results : 46,XX,t(4;12)(q11;p13)[15]/46,XX[5]
t(4;12)(q11;p13) GTL banded
Comments
This elderly woman did not receive induction chemotherapy. Her disease rapidly progressed from a smouldering leukaemia to a florid form. Findings are consistent with previous reports of t(4;12) with stem cell leukaemia in older patients, and with rarity of additional cytogenetic changes.
Internal links
Atlas Cardt(4;12)(q11-q21;p13)
Case ReportThe rare t(4;12)(q11;p13) in an elderly patient with de novo AML with multilineage dysplasia co-expressing stem cell markers
Case Report(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia
Bibliography
Characterization of acute leukemia with t(4;12).
Harada H, Harada Y, Eguchi M, Dohy H, Kamada N
Leukemia & lymphoma. 1997 ; 25 (1-2) : 47-53.
PMID 9130613
 
t(4;12)(q11;p13) in a CD7-negative acute myeloid leukaemia.
Sainty D, Arnoulet C, Mozziconacci MJ, De Pina JJ, Garnotel E, Lafage-Pochitaloff M
British journal of haematology. 1997 ; 96 (1) : 210-212.
PMID 9012712
 
Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13).
Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P
Blood. 1999 ; 94 (5) : 1820-1824.
PMID 10477709
 
A new translocation, t(2;4;12)(p21;q12;p13), in CD7-positive acute myeloid leukemia: a variant form of t(4;12).
Hamaguchi H, Nagata K, Yamamoto K, Kobayashi M, Takashima T, Taniwaki M
Cancer genetics and cytogenetics. 1999 ; 114 (2) : 96-99.
PMID 10549263
 
Isochromosome (17)(q10) and translocation (4;12)(q12;p13) in a child with acute myeloid leukemia.
Nathan PC, Chun K, Abdelhaleem M, Malkin D
Cancer genetics and cytogenetics. 2001 ; 131 (1) : 82-85.
PMID 11734325
 

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