t(X;11)(q13;q23)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(X;11)(q13;q23)

Clinics and Pathology

Disease Rare type of acute leukemia: acute non lymphocytic leukemia (ANLL), and acute lymphoblastic leukemia (ALL)

Note Peripheral leucocytes at diagnosis of Case 2 were cultured and are presently known as the KARPAS-45 cell line.

Epidemiology Two cases known in the litterature: Case 1: 7 mths, ANLL, male; Case 2: 30 mths, T-ALL, male.CLINICS Clinics at presentation: Case 1: Fever, bloody stool. WBC: 72.000 X 10⁹/l; Case 2: Mediastinal mass, dyspnoea. No hepatosplenomegaly. WBC: 5.600 X 10⁹/l.

Prognosis Grave, both cases died within a year after diagnosis.

Cytogenetics

Probes Pooled cDNA FISH-probes from AFX1: AFX 12, 115, 106, 108, 114.

Additional anomalies in KARPAS 45: Hypotetraploidy. 若, -3, +6, -14, -18 t(1;5)(q21;q12.2)x2, del4(4)(q22), del(16)(q22)

Genes involved and Proteins

Gene Name AFX1 (All-1 fusion partner on chromosome X)

Location Xq13

Gene Name MLL (Mixed Lineage Leukemia)

Location 11q23

Result of the chromosomal anomaly

Hybrid gene
Description 5' MLL-AFX1 3'and the reciprocal: 5' AFX1-MLL 3'

Fusion Protein
Description Hybrid transcript MLL-AFX1 contains the code for the following domains: AT-hook + DNA methyltransferase (from MLL) + part, aa 147-187 of the DNA-binding domain (from AFX1)

External links

Other database t(X;11)(q13;q23) Mitelman database (CGAP - NCBI)

Other database t(X;11)(q13;q23) CancerChromosomes (NCBI)

Other database	t(X;11)(q13;q23)	Mitelman database (CGAP - NCBI)
Other database	t(X;11)(q13;q23)	CancerChromosomes (NCBI)

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

Characterisation of malignant mediastinal lymphoid neoplasm (Sternberg sarcoma) as thymic in origin.

Smith JL, Clein GP, Barker CR, Collins RD

Lancet. 1973 ; 1 (7794) : 74-77.

PMID 4118652

The Establishment and Cytological, Cytochemical and Immunological Characterisation of Human Haemic Cell Lines: Evidence for Heterogeneity

Karpas A, Hayhoe FGJ, Greenberger JS, Barker CR, Cawley JC, Lowenthal RM, Moloney WC

Leukaemia Res. 1977 january ; 1 : 35-49.

Acute myelogenous leukemia in a child with primary involvement of chromosomes 11 and X.

Nacheva E, Fischer P, Haas O, Manolova Y, Manolov G, Levan A

Hereditas. 1982 ; 97 (2) : 273-288.

PMID 6962201

Acute leukemias of different lineages have similar MLL gene fusions encoding related chimeric proteins resulting from chromosomal translocation.

Corral J, Forster A, Thompson S, Lampert F, Kaneko Y, Slater R, Kroes WG, van der Schoot CE, Ludwig WD, Karpas A

Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (18) : 8538-8542.

PMID 8378328

Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family.

Parry P, Wei Y, Evans G

Genes, chromosomes & cancer. 1994 ; 11 (2) : 79-84.

PMID 7529552

Cloning and characterization of AFX, the gene that fuses to MLL in acute leukemias with a t(X;11)(q13;q23).

Borkhardt A, Repp R, Haas OA, Leis T, Harbott J, Kreuder J, Hammermann J, Henn T, Lampert F

Oncogene. 1997 ; 14 (2) : 195-202.

PMID 9010221

Contributor(s)

Written 08-2001 Stig E. Bojesen

Citation

This paper should be referenced as such :
Bojesen SE . t(X;11)(q13;q23). Atlas Genet Cytogenet Oncol Haematol. August 2001 .
URL : http://AtlasGeneticsOncology.org/Anomalies/t0X11ID1127.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon May 12 18:12:51 2008

Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Case Reports Journals Portal Teaching

For comments and suggestions or contributions, please contact us

j.l.huret@chu-poitiers.fr.

Disease	Rare type of acute leukemia: acute non lymphocytic leukemia (ANLL), and acute lymphoblastic leukemia (ALL)
Note	Peripheral leucocytes at diagnosis of Case 2 were cultured and are presently known as the KARPAS-45 cell line.
Epidemiology	Two cases known in the litterature: Case 1: 7 mths, ANLL, male; Case 2: 30 mths, T-ALL, male.CLINICS Clinics at presentation: Case 1: Fever, bloody stool. WBC: 72.000 X 10⁹/l; Case 2: Mediastinal mass, dyspnoea. No hepatosplenomegaly. WBC: 5.600 X 10⁹/l.
Prognosis	Grave, both cases died within a year after diagnosis.

Probes	Pooled cDNA FISH-probes from AFX1: AFX 12, 115, 106, 108, 114.
Additional anomalies	in KARPAS 45: Hypotetraploidy. 若, -3, +6, -14, -18 t(1;5)(q21;q12.2)x2, del4(4)(q22), del(16)(q22)

Gene Name	AFX1 (All-1 fusion partner on chromosome X)
Location	Xq13

Description	Hybrid transcript MLL-AFX1 contains the code for the following domains: AT-hook + DNA methyltransferase (from MLL) + part, aa 147-187 of the DNA-binding domain (from AFX1)