1q triplication in hematologic malignancies
2009-07-01 Tae Sung Park , Jong Rak Choi Affiliation1.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
