t(1;21)(p32;q22) RUNX1/?

Identity

ICD-Topo	C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho	9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id	1259

Clinics and Pathology

Disease	Acute myelomonoblastic leukemia (M4 by FAB subtype)
Phenotype / cell stem origin	CD34+, DR+, CD117+, CD15+, CD13+, CD33+, MPO+, CD64+ blast population consistent with AML-M4 by FAB subtype.
Etiology	Unknown, reported agricultural chemical exposure in single case.
Epidemiology	Single case involving 25 year old male.
Clinics	Patient presented w/o palpable adenopathy, gingival hyperplasia, systolic murmur, hepatosplenomegaly and petechia. WBC was normal with anemia and thrombocytopenia.
Cytology	Predominately large blasts with moderate cytoplasm, smooth nuclear chromatin, and prominent nucleoli, folded nuclear contours present in blast subset.
Treatment	Patient lost to treatment.
Evolution	Unknown
Prognosis	Unknown

Cytogenetics

Cytogenetics Morphological	Single case presented with second copy of der(1)t(1;21).
	Chromosome and FISH images showing : 1) partial karyotype and ideogram of t(1;21)(p32;q22) including a second copy of the der(1)t(1;21) present in the clone; and 2) metaphase FISH showing red AML1 signal on the two copies of the der(t)t(1;21), the der(21)t(1;21) and the normal 21 homolog. Green TEL signal is present of both 12 homologs indicating that no cryptic TEL/AML1 gene rearrangement is present. The adjacent interphase nucleus shows four AML1 signals and two TEL signals consistent with the metaphase pattern.
Cytogenetics Molecular	AML1 fusion suggested by partial translocation of 500kb probe signal to der(1)t(1;21).

Genes involved and Proteins

Note	The putative 1p32 gene partner is unknown. Cryptic t(12;21) TEL(ETV6)/AML1 rearrangement is unlikely due to normal TEL metaphase FISH signal using commercial TEL/AML1 probe.

Gene Name	RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location	21q22.12
Dna / Rna	AML1 is oriented 3' toward the centromere.
Protein	Contains a runt domain and at C-term a tranactivation domain; forms heterodimers, widely expressed; nuclear localization; transcription factor (activator) for various hematopoietic-specific genes.

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.
Case Report	t(1;21)(p32;q22) as a non-random abnormality in AML M4

Bibliography

A unique AML1 (CBF2A) rearrangement, t(1;21)(p32;q22), observed in a patient with acute myelomonocytic leukemia.

Cherry AM, Bangs CD, Jones P, Hall S, Natkunam Y

Cancer genetics and cytogenetics. 2001 ; 129 (2) : 155-160.

PMID 11566347

Citation

This paper should be referenced as such :

Bangs, CD

t(1;21)(p32;q22)

Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):183-184.

Free journal version : [ pdf ]   [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Anomalies/t0121p32q22ID1259.html

Translocations implicated (Data extracted from papers in the Atlas)

	t(1;21)(p32;q22) RUNX1/?

External links

Mitelman database	t(1;21)(p32;q22) [Case List]    t(1;21)(p32;q22) [Transloc-MCList] RUNX1/? [Fusion-MCList]
arrayMap (UZH-SIB Zurich)	Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

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

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indexed on : Tue Aug 28 18:16:35 CEST 2018

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