| Disease |
Myeloproliferative disorders, multiple myeloma and lymphoid malignancies |
| Phenotype / cell stem origin |
Reported in diverse hematologic disorders |
| Etiology | Different factors like constitutional fragility of the 1q heterochromatin, cytotoxic drugs, ionizing radiation and/or oncogenic viruses are suspected to be implicated in the origin of 1q rearrangements. |
| Epidemiology | Reported at least in 20 cases (Table 1); median age 52 years (range 20-86), balanced sex ratio (11M/9F). Found in: chronic myeloproliferative disorders (8 of the 20 available cases): polycythemic myelofibrosis (PPMF) in 1 case, essential trombocytopenia (ET) in 1 case, chronic myeloid leukemia (CML) in 1 case; myelodysplastic syndromes (MDS) in transformation in 3 patients as well as in acute myeloid leukaemia (2 patients), multiple myeloma (4 patients) and in lymphoid malignancies (8 patients). |
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| Abbreviations: Ref., reference; PPMF, postpolycythemic myelofibrosis; f, female; m, male; MDS, myelodysplastic syndrome; FA, Fanconi anemia; CML, chronic myeloid leukemia; AML, acute myeloid leukemia; ET, essential thrombocythemia; MM, multiple myeloma; DLBCL, diffuse large B-cell lymphoma.
Chromosome anomalies detected in the lymph node.
Reference : 1. Swolin et al., 1983; 2. Fleischman et al., 1989; 3. Horiike et al., 1994; 4. Hashimoto et al., 1995; 5. Sawyer et al., 1995; 6. Sawyer et al., 1998; 7. Lindvall et al., 2001; 8. Andrieux et al., 2003; 9. Gascoyne et al., 2003; 10. Horsman et al., 2003; 11. Lestou et al., 2003; 12. Tanaka et al., 2006; 13. Adeyinka et al., 2007; 14. Mohamed et al., 2007; 15. Johnson et al., 2008; 16. Bajaj et al., 2011; 17. Flach et al., 2011; 18. Quentin et al., 2011; 19. Sawyer et al., 2014 |
|
| Evolution | Whether karyotypic changes associated with extra copies of 1q are primary events or they are induced during disease evolution as a side effect of cytotoxic treatments is unclear. May be found as a sole anomaly in chronic myeloproliferative disorders (Andrieux et al, 2003; Tanaka et al, 2006), indicating that der(1;13) might be a primary change in myeloid disorders. Occurred as part of complex karyotypes in multiple myeloma and lymphoproliferative malignancies, suggesting that 1q abnormalities may be secondary events in these diseases representing clonal evolution associated with natural disease evolution. |
| Prognosis | It is likely that the prognosis depends on the patient diagnosis in myeloid malignancies (chronic disease versus acute leukemia). Prognosis in multiple myeloma and lymphoid malignancies is uncertain. |
| Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies |
| Adeyinka A, Wei S, Sanchez J |
| Cancer Genet Cytogenet 2007 Mar;173(2):136-43 |
| PMID 17321329 |
| |
| Karyotypic abnormalities in myelofibrosis following polycythemia vera |
| Andrieux J, Demory JL, Caulier MT, Agape P, Wetterwald M, Bauters F, Laï JL |
| Cancer Genet Cytogenet 2003 Jan 15;140(2):118-23 |
| PMID 12645649 |
| |
| Evidence-based genomic diagnosis characterized chromosomal and cryptic imbalances in 30 elderly patients with myelodysplastic syndrome and acute myeloid leukemia |
| Bajaj R, Xu F, Xiang B, Wilcox K, Diadamo AJ, Kumar R, Pietraszkiewicz A, Halene S, Li P |
| Mol Cytogenet 2011 Jan 20;4:3 |
| PMID 21251322 |
| |
| An accumulation of cytogenetic and molecular genetic events characterizes the progression from MDS to secondary AML: an analysis of 38 paired samples analyzed by cytogenetics, molecular mutation analysis and SNP microarray profiling |
| Flach J, Dicker F, Schnittger S, Schindela S, Kohlmann A, Haferlach T, Kern W, Haferlach C |
| Leukemia 2011 Apr;25(4):713-8 |
| PMID 21233836 |
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| Chromosomal characteristics of malignant lymphoma |
| Fleischman EW, Prigogina EL, Ilynskaya GW, Probatova NA, Konstantinova LN, Kruglova GV, Volkova MA, Osmanov DS |
| Hum Genet 1989 Jul;82(4):343-8 |
| PMID 2737667 |
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| ALK-positive diffuse large B-cell lymphoma is associated with Clathrin-ALK rearrangements: report of 6 cases |
| Gascoyne RD, Lamant L, Martin-Subero JI, Lestou VS, Harris NL, Müller-Hermelink HK, Seymour JF, Campbell LJ, Horsman DE, Auvigne I, Espinos E, Siebert R, Delsol G |
| Blood 2003 Oct 1;102(7):2568-73 |
| PMID 12763927 |
| |
| Correlations of chromosome abnormalities with histologic and immunologic characteristics in 49 patients from Akita, Japan with non-Hodgkin lymphoma |
| Hashimoto K, Miura I, Chyubachi A, Saito M, Miura AB |
| Cancer Genet Cytogenet 1995 May;81(1):56-65 |
| PMID 7773961 |
| |
| N-ras mutation and karyotypic evolution are closely associated with leukemic transformation in myelodysplastic syndrome |
| Horiike S, Misawa S, Nakai H, Kaneko H, Yokota S, Taniwaki M, Yamane Y, Inazawa J, Abe T, Kashima K |
| Leukemia 1994 Aug;8(8):1331-6 |
| PMID 8057669 |
| |
| Follicular lymphoma lacking the t(14;18)(q32;q21): identification of two disease subtypes |
| Horsman DE, Okamoto I, Ludkovski O, Le N, Harder L, Gesk S, Siebert R, Chhanabhai M, Sehn L, Connors JM, Gascoyne RD |
| Br J Haematol 2003 Feb;120(3):424-33 |
| PMID 12580956 |
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| Prognostic significance of secondary cytogenetic alterations in follicular lymphomas |
| Johnson NA, Al-Tourah A, Brown CJ, Connors JM, Gascoyne RD, Horsman DE |
| Genes Chromosomes Cancer 2008 Dec;47(12):1038-48 |
| PMID 18720523 |
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| Multicolour fluorescence in situ hybridization analysis of t(14;18)-positive follicular lymphoma and correlation with gene expression data and clinical outcome |
| Lestou VS, Gascoyne RD, Sehn L, Ludkovski O, Chhanabhai M, Klasa RJ, Husson H, Freedman AS, Connors JM, Horsman DE |
| Br J Haematol 2003 Sep;122(5):745-59 |
| PMID 12930384 |
| |
| Molecular cytogenetic characterization of acute myeloid leukemia and myelodysplastic syndromes with multiple chromosome rearrangements |
| Lindvall C, Nordenskjö M, Porwit A, Björkholm M, Blennow E |
| Haematologica 2001 Nov;86(11):1158-64 |
| PMID 11694401 |
| |
| Chromosome aberrations in a series of 120 multiple myeloma cases with abnormal karyotypes |
| Mohamed AN, Bentley G, Bonnett ML, Zonder J, Al-Katib A |
| Am J Hematol 2007 Dec;82(12):1080-7 |
| PMID 17654686 |
| |
| Myelodysplasia and leukemia of Fanconi anemia are associated with a specific pattern of genomic abnormalities that includes cryptic RUNX1/AML1 lesions |
| Quentin S, Cuccuini W, Ceccaldi R, Nibourel O, Pondarre C, Pagès MP, Vasquez N, Dubois d'Enghien C, Larghero J, Peffault de Latour R, Rocha V, Dalle JH, Schneider P, Michallet M, Michel G, Baruchel A, Sigaux F, Gluckman E, Leblanc T, Stoppa-Lyonnet D, Preudhomme C, Socié G, Soulier J |
| Blood 2011 Apr 14;117(15):e161-70 |
| PMID 21325596 |
| |
| Identification of new nonrandom translocations in multiple myeloma with multicolor spectral karyotyping |
| Sawyer JR, Lukacs JL, Munshi N, Desikan KR, Singhal S, Mehta J, Siegel D, Shaughnessy J, Barlogie B |
| Blood 1998 Dec 1;92(11):4269-78 |
| PMID 9834233 |
| |
| Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease |
| Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B |
| Blood 2014 Apr 17;123(16):2504-12 |
| PMID 24497533 |
| |
| Cytogenetic findings in 200 patients with multiple myeloma |
| Sawyer JR, Waldron JA, Jagannath S, Barlogie B |
| Cancer Genet Cytogenet 1995 Jul 1;82(1):41-9 |
| PMID 7627933 |
| |
| Cytogenetic studies of bone marrow and extramedullary tissues and clinical course during metamorphosis of chronic myelocytic leukemia |
| Swolin B, Weinfeld A, Waldenströ J, Westin J |
| Cancer Genet Cytogenet 1983 Jul;9(3):197-209 |
| PMID 6574810 |
| |
| Multiple granulocytic sarcomas in essential thrombocythemia |
| Tanaka Y, Nagai Y, Mori M, Fujita H, Togami K, Kurata M, Matsushita A, Maeda A, Nagai K, Tanaka K, Takahashi T |
| Int J Hematol 2006 Dec;84(5):413-6 |
| PMID 17189221 |
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