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1q triplication in hematologic malignancies

Written2009-07Tae Sung Park, Jong Rak Choi
Department of Laboratory Medicine, Kyung Hee University School 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)

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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
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1528
 
  Giemsa-banding partial karyograms of 1q triplication and its representative ideogram. The arrows indicate a trp(1)(q21q32) chromosome.

Clinics and Pathology

Disease Acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), Burkitt lymphomas or non-Burkitt type lymphomas, acute lymphoblastic leukemia (ALL), multiple myeloma (MM), myeloproliferative neoplasm (MPN) and Fanconi anemia.
Note 29 cases have been reported in the literature.
Phenotype / cell stem origin Rare secondary karyotypic event in various hematologic malignancies; AML/MDS (8 cases), Lymphoma (9 cases), ALL (6 cases), MM (3 cases), MPN (2 cases), Fanconi anemia without other hematologic malignancies (1 case).
Epidemiology Male predominance (71%), patients ranged in age from 14 to 69 (median 41.5 years).
Prognosis Most of 1q triplication cases did not provide detailed information for the patients' survival. Although partial duplication/triplication of 1q or trisomy 1 was reported to be correlated with a poor outcome, further studies are needed for the evaluation of prognosis in such patients.

Cytogenetics

Cytogenetics Morphological 1q triplication is a distinct secondary chromosomal abnormality. Most repeated region (tandem triplication) of 1q is q21-q32 (33% of total cases).
Additional anomalies Most cases showed a complex karyotype except three solitary abnormalities of trp(1)(q) cases.

Genes involved and Proteins

Note The gene involved in trp(1)(q) is unknown. However, it was suggested that the most common region of duplication, 1q23-q24, habors genes associated with tumor cell invasiveness.

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Citation

This paper should be referenced as such :
Park, TS ; Choi, JR
1q triplication in hematologic malignancies
Atlas Genet Cytogenet Oncol Haematol. 2010;14(6):588-590.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/trp1qID1528.html


External links

arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
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