t(16;21)(p11;q22)

Clinics and Pathology

Disease	Ewing tumours
Note	t(16;21)(p11;q22) has been found in rare cases of Ewing tumours, a paediatric neoplasm with small round-cells derived from neural crests cells usually associated with translocations involving EWSR1
Cytogenetics	Ewing tumours are usually associated with a t(11;22)(q24;q12) with 5' EWSR1 - 3' FLI1 involvement, less often associated with t(21;22)(q22;q12) with 5' EWSR1 - 3' ERG involvement, rarely associated with t(2;22)(q36; q12) (5' EWSR1 - 3' FEV) or with t(17;22)(q21;q12) (5' EWSR1-3' ETV4)
Prognosis	recent treatments have improved the prognosis of Ewing's tumours. The prognosis is mainly determined by the presence of metastases at the time of diagnosis

Disease	de novo acute non lymphocytic leukemia (ANLL); to be noted is one case of chronic myelogenous leukemia (CML) -blast crisis.
Phenotype / cell stem origin	ANLL cases: mainly M1, M2, M4, M5a, M5b, or M7 ANLL; may be preceded by a myelodysplastic syndrome (MDS).
Epidemiology	about 40 reported cases, mainly found in young adults; children cases are described; median age is about 30 yrs; balanced sex ratio
Clinics	blood data: anemia, thrombocytopenia, mild hyperleucocytosis; with high monocytic cell count at times
Cytology	myelocytic and monocytoid features are often present; eosinophils in the bone marrow are sometimes abnormal and/or elevated; erythrophagocytosis may be found
Prognosis	seems poor: complete remission may not be achieved; there is high incidence of relapse within a year and a median of survival is about 22 months (cases herein reviewed)

Cytogenetics

Cytogenetics Molecular

ANLL cases: found solely in about 60% of cases in at least a subclone; associated with +10, +8, or de(9q)/-9 in about 10% of cases each

Genes involved and Proteins

Gene Name	FUS
Location	16p11
Protein	RNA binding protein; member of the TET family, like EWSR1

Gene Name	ERG
Location	21q22
Protein	ETS transcription factor

Result of the chromosomal anomaly

Hybrid Gene
Description	5' FUS including exons 1 to 6, 7 or 8 - 3' ERG from exon 7, 8 or 9 to C-term.
Fusion Protein
Description	N-term FUS transactivation domain fused to the C-term DNA binding ETS domain of ERG
Oncogenesis	seems to act as a transcriptional activator

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REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Contributor(s)

Written	02-1998	Christine Pérot
Updated	01-2005	Jean Loup Huret

Citation

This paper should be referenced as such :

Pérot C . t(16;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. February 1998 . URL : http://AtlasGeneticsOncology.org/Tumors/t1621p11q22EwingID5329.html

Huret JL . t(16;21)(p11;q22). Atlas Genet Cytogenet Oncol Haematol. January 2005 . URL : http://AtlasGeneticsOncology.org/Tumors/t1621p11q22EwingID5329.html

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