| Disease |
Non Hodgkin Lymphoma (NHL). Aberrations of chromosomal bands 1p36 and 1q11-q23 are among the most common chromosomal alterations in NHL. |
| Phenotype / cell stem origin |
Lymphocytes (B-cell and T-cell). |
| Etiology | The exact etiology of NHL is still unknown, risk increases with exposed to ionizing radiation, chemicals such as pesticides or solvents, Epstein-Barr Virus infection, family history of NHL (although no hereditary pattern has been established, Human Immunodeficiency Virus (HIV) infection, immunosuppression or immunodeficiency, genetics. |
| Epidemiology | NHL is the 5th most frequently diagnosed cancer overall for both males and females, males are slightly more often affected than females, increasing over time. |
| Clinics | At diagnosis, painful swelling of lymph nodes located in the neck, underarm and groin, unexplained fever, night sweats, constant fatigue, unexplained weight loss, itchy skin. |
| Cytology | Anti-B-cell antibodies (e.g. CD19, CD20, CD10, CD23); anti-T-cell antibodies (e.g. CD3, CD4, CD2/HLADR); other antibodies (e.g. CD45 for total lymphocytes, CD10 for monocytes). |
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| Transformed follicular lymphoma (courtesy, Dr. R.D. Gascoyne, BC Cancer Agency, Vancouver, Canada). |
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| Pathology | t(1;1)(p36;q21) has been seen in following NHL types as characterized by pathology; follicular lymphoma (FL) grades 1-3; diffuse large B-cell lymphoma; T-cell lymphoma and peripheral T-cell lymphoma. |
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| Univariate analyses using the Kaplan-Meier method for 1p36-, demonstrating the significance of this chromosomal change for overall survival. In multivariate analysis using the Cox regression model controlling for IPI, the significance remained intact. |
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| Treatment | Depend on the stage and type and genetics of NHL; "watch-and-wait" approach in case of indolent follicular lymphomas; radiotherapy to site of problem; systemic chemotherapy; oral agents; IV agents; antibody against CD20; stem cell or bone marrow transplant. |
| Evolution | Initial genomic aberration (such as t(14;18)(q32;q21) in follicular lymphoma) may or may not be sufficient for the initiation of the malignant phenotype. Additional genomic rearrangements are required for disease progression. |
| Prognosis | Depend on the stage, type and genetics of NHL; in general, highly treatable and some times curable. However, a number of karyotype parameters have been reported to influence prognosis in NHL. It has been demonstrated that the cytogenetic abnormality 1p36-, as a result of t(1;1)(p36;q21) or another rearrangement involving chromosome 1, was found to be a significant predictors of adverse overall survival for FL (univariate and multivariate analysis). |
| Note | t(1;1)(p36;q21). G-band and M-BAND1 Detection of der(1)t(1;1). |
| Cytogenetics Morphological | Normal chromosome 1 with derivative chromosomes 1; Breakpoints are at chromosomal positions 1p36.3 and 1q21.1-2; duplication of the 1q21 to 1q44; adverse prognosis (?as a result of 1p36 suppressor genes deletions and/or duplication of 1q21q44 oncogenes); additional secondary abnormalities to t(1;1) of various complexity as usually seen in NHL. |
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A: The derivative chromosome 1 in all 16 NHL cases as seen by G-band analysis. Arrows indicate the additional unidentified dark band.
B: The corresponding derivative chromosome 1 as seen by M-BAND1 analysis. Arrows indicate the dup(1)(q21.1q21.2) at the p/q-arm interface (broad orange/ pink bands). X indicates cases where no material was available for M-BAND1 analysis.
C: Normal chromosome 1 as seen by G-band and M-BAND1 analysis, color classifier, and ISCN 550-band level ideogram. |
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| Cytogenetics Molecular | LS-FISH identification of 1p36.3 and 1q21.1-2 breakpoints on der(1)t(1;1); Two distinct types of 1p36.3 rearrangements were observed: One type involved deletions of SKI, MEL1, and TP73, and retained CASP9 the other type showed breakpoints telomeric to TP73; Four distinct types of 1q21.1-2 rearrangements were observed: The first type involved breakpoints at IRTA1 and IRTA2 with duplications of IRTA1, IRTA2, BCL9, AF1Q, JTB, and MUC1; the second type involved a breakpoint at BCL9 with duplications of BCL9, AF1Q, JTB, and MUC1; the third type involved a breakpoint at AF1Q with duplications of AF1Q, JTB, and MUC1; the fourth type involved an undefined breakpoint telomeric to MUC1. |
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Composite picture of all LS-FISH patterns observed in this study with representative examples.
A: Normal color-coded chromosome 1 LS-FISH pattern, demonstrating the relative localization of all BAC probes.
B: All der(1)t(1;1) combinations seen by LS-FISH.
C: Two color-coded representative images corresponding to B and demonstrating the p/q-arm breakpoint interfaces. |
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| Identification of cytogenetic subgroups and karyotypic pathways of clonal evolution in follicular lymphomas. |
| Höglund M, Sehn L, Connors JM, Gascoyne RD, Siebert R, Säll T, Mitelman F, Horsman DE |
| Genes, chromosomes & cancer. 2004 ; 39 (3) : 195-204. |
| PMID 14732921 |
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| 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 |
| British journal of haematology. 2003 ; 120 (3) : 424-433. |
| PMID 12580956 |
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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 |
| British journal of haematology. 2003 ; 122 (5) : 745-759. |
| PMID 12930384 |
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| Characterization of the recurrent translocation t(1;1)(p36.3;q21.1-2) in non-Hodgkin lymphoma by multicolor banding and fluorescence in situ hybridization analysis. |
| Lestou VS, Ludkovski O, Connors JM, Gascoyne RD, Lam WL, Horsman DE |
| Genes, chromosomes & cancer. 2003 ; 36 (4) : 375-381. |
| PMID 12619161 |
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| New insights into the evolution of chromosome 1. |
| Weise A, Starke H, Mrasek K, Claussen U, Liehr T |
| Cytogenetic and genome research. 2005 ; 108 (1-3) : 217-222. |
| PMID 15545733 |
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