|| 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).|
| Transformed follicular lymphoma (courtesy, Dr. R.D. Gascoyne, BC Cancer Agency, Vancouver, Canada).|
|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.|
| 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.|
|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.|
|| 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.
|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.|
|| 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.
| Uncovering novel inter- and intrachromosomal chromosome 1 aberrations in follicular lymphomas by using an innovative multicolor banding technique.|
| Lestou VS, Gascoyne RD, Salski C, Connors JM, Horsman DE|
| Genes, chromosomes & cancer. 2002 ; 34 (2) : 201-210.|
| 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.|
| 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.|
| 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.|
| Identification of cytogenetic subgroups and karyotypic pathways of clonal evolution in follicular lymphomas.|
| Hglund M, Sehn L, Connors JM, Gascoyne RD, Siebert R, S§ll T, Mitelman F, Horsman DE|
| Genes, chromosomes & cancer. 2004 ; 39 (3) : 195-204.|
| 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.|