| Written | 2009-03 | Tae Sung Park, Jong Rak Choi |
| Department of Laboratory Medicine, Kyung Hee University College of Medicine, 1 Hoegi-dong, Dongdaemun-gu, Seoul 130-702, Korea (TSP); Department of Laboratory Medicine, Yonsei University College of Medicine, 250 Seongsanno, Seodaemun-gu, Seoul 120-752, Korea (JRC) |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| ICD-Morpho | 9807/3 Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged |
| ICD-Morpho | 9813/3 B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged |
| ICD-Morpho | 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS |
| Atlas_Id | 1522 |
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| Giemsa-banding partial karyograms of t(6;11)(q15;q23). (Each left side chromosomes 6 and 11: normal, each right side chromosomes 6 and 11: derivative chromosome). | |
| Clinics and Pathology |
| Disease | Acute myeloid leukemia (AML) |
| Note | Only 4 cases to date, 3 of which do not provide further descriptions. |
| Phenotype / cell stem origin | All cases were acute myeloid leukaemia (AML); AML-M0 (1 case), AML-M2 (1 case), AML-M4 (2 cases). |
| Epidemiology | All patients were female between the ages of 13 to 68 years. |
 | |
| Multi-color FISH image showing t(6;11)(q15;q23). | |
 | |
| Bone marrow morphology from AML-M2 case with t(6;11)(q15;q23). | |
| Prognosis | Very poor in 1 case (survival : only 2 weeks in AML-M2). |
| Cytogenetics |
| Cytogenetics Morphological | It shows distinct balanced chromosomal abnormalities between chromosomes 6 and 11; however, it should be differentiated from t(6;11)(q13;q23) in association with MLL/ SMAP1 rearrangement. |
| Cytogenetics Molecular | MLL breakapart FISH probe is very useful. |
| Additional anomalies | del(5)(q13q15) in 1 case, sole abnormality in remaining 3 cases. |
| Genes involved and Proteins |
| Note | The gene involved in 6q15 is unknown. |
| Gene Name | KMT2A |
| Location | 11q23 |
| Note | More than 50 different translocation fusion partners in association with the MLL gene have been reported in the literature. In chromosome 6, t(6;11)(q27;q23) (MLL/AF6 rearrangement) is the most commonly encountered chromosomal abnormality. In contrast, t(6;11)(q13;q23) or t(6;11)(q15;q23) is the rarest type of MLL rearrangement involving the long arm of chromosome 6. |
| Result of the chromosomal anomaly |
| Note | Unknown. However, MLL/SMAP1 rearrangement was excluded in one case by both our group and Dr. Meyer. |
| Note | Unknown. |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. |
| Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R. |
| Proc Natl Acad Sci U S A. 2005 Jan 11;102(2):449-54. Epub 2004 Dec 30. |
| PMID 15626757 |
| Comparison of multiplex reverse transcription polymerase chain reaction and conventional cytogenetics as a diagnostic strategy for acute leukemia. |
| Park JS, Yi JW, Jeong SH, Lee HW, Kang SY, Choi JH, Kim HC, Park JE, Kim E, Lim YA, Kim HJ, Cho SR. |
| Int J Lab Hematol. 2008 Dec;30(6):513-8. |
| PMID 18983303 |
| MLL rearrangement with t(6;11)(q15;q23) as a sole abnormality in a patient with de novo acute myeloid leukemia: conventional cytogenetics, FISH, and multicolor FISH analyses for detection of rare MLL-related chromosome abnormalities. |
| Park TS, Lee ST, Song J, Lee KA, Lee SG, Kim J, Suh B, Kim SJ, Lee JH, Park R, Choi JR. |
| Cancer Genet Cytogenet. 2008 Nov;187(1):50-3. |
| PMID 18992643 |
| Analysis of balanced rearrangements of chromosome 6 in acute leukemia: clustered breakpoints in q22-q23 and possible involvement of c-MYB in a new recurrent translocation, t(6;7)(q23;q32 through 36). |
| Sinclair P, Harrison CJ, Jarosova M, Foroni L. |
| Haematologica. 2005 May;90(5):602-11. |
| PMID 15921375 |
| Analysis of treatment failure in patients with minimally differentiated acute myeloid leukemia (AML-M0). |
| Stasi R, Del Poeta G, Venditti A, Masi M, Stipa E, Dentamaro T, Cox C, Dallapiccola B, Papa G. |
| Blood. 1994 Mar 15;83(6):1619-25. |
| PMID 8123853 |
| Citation |
| This paper should be referenced as such : |
| Park, TS ; Choi, JR |
| t(6;11)(q15;q23) |
| Atlas Genet Cytogenet Oncol Haematol. 2010;14(2):161-163. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0611q15q23ID1522.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | CASP8AP2 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(6;11)(q15;q23) KMT2A/? | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:23:19 CEST 2017 |
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