1q triplication in hematologic malignancies

2009-07-01 Tae Sung Park , Jong Rak Choi Affiliation

1.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)

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 stem cell 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.

Article Bibliography

Pubmed ID	Last Year	Title	Authors
7692950	1993	Chromosome painting as a supplement to cytogenetic banding analysis in non-Hodgkin's lymphoma.	Bajalica S et al
8431915	1993	Chromosome abnormalities in bone marrow of Fanconi anemia patients.	Berger R et al
15198354	2004	Utility of routine classical cytogenetic studies in the evaluation of suspected lymphomas: results of 279 consecutive lymph node/extranodal tissue biopsies.	Cook JR et al
8547655	1996	Marginal zone B-cell lymphomas of different sites share similar cytogenetic and morphologic features.	Dierlamm J et al
11408063	2001	Triplication of 1q in Fanconi anemia.	Ferro MT et al
8464232	1993	Interphase in situ hybridization reveals minimal residual disease in early remission and return of the diagnostic clone in karyotypically normal relapse of acute lymphoblastic leukemia.	Heerema NA et al
8057669	1994	N-ras mutation and karyotypic evolution are closely associated with leukemic transformation in myelodysplastic syndrome.	Horiike S et al
11369658	2001	Cytogenetic analysis and clinical significance in adult T-cell leukemia/lymphoma: a study of 50 cases from the human T-cell leukemia virus type-1 endemic area, Nagasaki.	Itoyama T et al
12378526	2002	Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma.	Itoyama T et al
6654522	1983	Prognostic implications of karyotype and morphology in patients with non-Hodgkin's lymphoma.	Kaneko Y et al
6683122	1983	Chromosome 1q+ in erythroid and granulocyte-monocyte precursors in a patient with essential thrombocythemia.	Knuutila S et al
6722756	1984	Novel tandem triplication of 1q in a patient with a myelodysplastic syndrome.	Papenhausen PR et al
19215795	2009	A tandem triplication, trp(1)(q21q32), in a patient with follicular lymphoma: a case study and review of the literature.	Park TS et al
8630981	1996	Cytogenetic, cytomorphologic, and immunologic analysis in 55 children with acute lymphoblastic leukemia.	Petković I et al
15642390	2005	Frequent aberrations of chromosome 8 in aggressive B-cell non-Hodgkin lymphoma.	Pienkowska-Grela B et al
8637229	1996	Heterogeneity of hyperdiploid (51-67) childhood acute lymphoblastic leukemia.	Raimondi SC et al
10459351	1999	Cytogenetic abnormalities correlate with the plasma cell labeling index and extent of bone marrow involvement in myeloma.	Rajkumar SV et al
9529139	1998	Detection of hyperdiploid karyotypes (>50 chromosomes) in childhood acute lymphoblastic leukemia (ALL) using fluorescence in situ hybridization (FISH).	Ritterbach J et al
11516111	2001	Detection of translocations affecting the BCL6 locus in B cell non-Hodgkin's lymphoma by interphase fluorescence in situ hybridization.	Sanchez-Izquierdo D et al
9834233	1998	Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping.	Sawyer JR et al
9473240	1998	Jumping translocations of chromosome 1q in multiple myeloma: evidence for a mechanism involving decondensation of pericentromeric heterochromatin.	Sawyer JR et al
3592130	1987	Confirmation of Fanconi's anemia and detection of a chromosomal aberration (1Q12-32 triplication) via BrdU/Hoechst flow cytometry.	Schindler D et al
8194046	1994	Cytogenetic studies, ras mutation, and clinical characteristics in primary myelodysplastic syndrome. A study on 68 Chinese patients in Taiwan.	Tien HF et al
9806664	1998	Clinical significance of Philadelphia chromosome positive pediatric acute lymphoblastic leukemia in the context of contemporary intensive therapies: a report from the Children's Cancer Group.	Uckun FM et al

Summary

Giemsa-banding partial karyograms of 1q triplication and its representative ideogram. The arrows indicate a trp(1)(q21q32) chromosome.

Citation

Tae Sung Park ; Jong Rak Choi

1q triplication in hematologic malignancies

Atlas Genet Cytogenet Oncol Haematol. 2009-07-01

Online version: http://atlasgeneticsoncology.org/haematological/1528/1q-triplication-in-hematologic-malignancies