Atlas of Genetics and Cytogenetics in Oncology and Haematology
| 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 |
| 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 |
| 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 |
| Contributor(s) |
| Written | 08-2002 | Sarah 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 |
| Citation |
| This paper should be referenced as such : |
| Moore S, Chunilal S, Beerworth J . . Atlas Genet Cytogenet Oncol Haematol. August 2002 . URL : http://AtlasGeneticsOncology.org/Genes/0412MooreID100005.html |
This paper is referenced by INIST as such : |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:39:47 CET 2013 |
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