1q triplication in hematologic malignancies

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1q triplication in hematologic malignancies

Identity



	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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Contributor(s)

Written	07-2009	Tae 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)

Citation

This paper should be referenced as such :

Park TS, Choi JR . 1q triplication in hematologic malignancies. Atlas Genet Cytogenet Oncol Haematol. July 2009 .
URL : http://AtlasGeneticsOncology.org/Anomalies/trp1qID1528.html

indexed on : Sat Feb 6 15:46:38 CET 2010

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