Written | 2003-06 | Charles D Bangs |
Cytogenetics Laboratory, Rm. H1517, Stanford Hospital, Clinics, 300 Pasteur Dr. Stanford, CA 94305, USA |
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). |
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Chromosome and FISH images showing : | |
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) |
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 |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:25:22 CET 2020 |
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