Written | 2017-07 | Adriana Zamecnikova |
Kuwait Cancer Control Center, Department of Hematology, Laboratory of Cancer Genetics, Kuwait; annaadria@yahoo.com |
Abstract | Review on +X solely in lymphomas, with data on clinics. |
Keywords | X chromosome gain, malignant lymphoma, chronic lymhocytic leukemia, gene downregulation. |
Identity |
ICD-Topo | C420,C421,C424 |
ICD-Morpho | 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma |
ICD-Morpho | 9700/3 Mycosis fungoides |
ICD-Morpho | 9701/3 Sezary syndrome |
ICD-Morpho | 9827/3 Adult T-cell leukaemia/lymphoma |
ICD-Morpho | 9705/3 Angioimmunoblastic T-cell lymphoma |
ICD-Morpho | 9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma |
ICD-Morpho | 9650/3 Classical Hodgkin lymphoma |
ICD-Morpho | 9663/3 Nodular sclerosis classical Hodgkin lymphoma |
ICD-Morpho | 9702/3 Peripheral T-cell lymphoma, NOS; Anaplastic large cell lymphoma, ALK negative |
ICD-Morpho | 9689/3 |
ICD-Morpho | 9673/3 Mantle cell lymphoma |
ICD-Morpho | 9690/3 Follicular lymphoma; Paediatric follicular lymphoma |
Atlas_Id | 1800 |
Clinics and Pathology |
Disease | B- and T-cell lymphomas and chronic lymhocytic leukemia (CLL). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Phenotype / cell stem origin | 39 lymphoma cases to date; among them, lymphomas with B-cell phenotype in 26 patients: follicular lymphoma (FL, n=6) (Rosenwald et al 1999; Horsman et al 2001; Goodlad et al 2003; Fan & Rizkalla 2003; Rajgopal et al 2003; Aamot et al 2007), diffuse large B-cell lymphomas (DLBCL, n=6) (Koduru et al., 1987; Konishi et al., 1990; Cigudosa et al., 1999; Cerretini et al., 2006; Niitsu et al., 2009; Niitsu et al., 2009); mature B-cell neoplasm (n=3, MBCN) ( Maseki et al., 1987; Coignet et al., 1996; Cook et al., 2004), nodal marginal zone B-cell lymphoma (NMZL, n=3) ( Cook et al., 2004; Aamot et al., 2005; Martin-Subero et al., 2007); splenic marginal zone B-cell lymphoma (SMZL, n=3) (Dierlamm et al., 1996; Le Baccon et al., 2001; Narayan et al., 2013), Hodgkin disease (HD, n=3) (Dennis et al., 1989; Schlegelberger et al., 1994; Falzetti et al., 1999), 1 post-transplant lymphoproliferative disorder with primary non-Hodgkin lymphoma (Djokic et al., 2006) and 1 mantle cell lymphoma case (Siebert et al., 1998). Various T-cell malignancies in 13 patients: most often angioimmunoblastic T-cell lymphoma (ATCL, n=6) (Godde-Salz et al., 1987; Kaneko et al., 1988; Schlegelberger et al., 1990), mature T- and NK-cell neoplasm (n=2) (Hashimoto et al., 1995), mycosis fungoides/Sezary syndrome (n=2) (van Vloten et al., 1979; Limon et al., 1995), adult T-cell lymphoma/leukemia (HTLV-1+) (ATL, n=2) (Sanada et al., 1986; Itoyama et al., 2001) and 1 there was 1 unspecified peripheral T-cell lymphoma case (Schlegelberger et al., 1994) (Table 1).
B>Abbreviations: M, male; F, female; LN, lymph node.
Figure 2. Clinical and karyotyping data in chronic lymphocytic leukemia patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Epidemiology | 14 males and 25 females with various forms of lymphomas (aged 16 to 89 years; median age 62 years); median age was 62 years in B-cell lymphomas (11 males and 15 females aged 16 to 89 years); female prevalence in T-cell malignancies (3 males, 10 females aged 32 to 78 years). Similarly, there is a female prevalence in chronic lymphocytic leukemia patients (3 males and 13 females), aged 40 to 79 years (from the known data). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Prognosis | Unknown, due to the heterogeneity of diseases; (indolent versus aggressive disease); patients with only numerical abnormalities may have better outcome than patients with structural changes in a sideline. |
Cytogenetics |
Cytogenetics Morphological | Out of 39 lymphoma patients, the extra chromosome X was found in a sideline in 22 cases: Found in association with t(8;14)(q24;q32) and t(14;18)(q32;q21) in 1 DLCL (Niitsu et al., 2009), t(14;18)(q32;q21) in 5 FL (Horsman et al., 2001; Goodlad et al., 2003; Fan and Rizkalla., 2003; Rajgopal et al., 2003; Aamot et al., 2007), t(11;14)(q13;q32) in 1 MCL (Siebert et al., 1998), del(11)(q23) and del(13)(q12q14) in 1 NMZL (Cook et al., 2004), t(14;19)(q32;q13) in 1 NMZL (Martin-Subero et al.,2007), t(11;14)(q13;q32) in 1 MCL (Siebert et al., 1998) and miscellaneous anomalies in 4 B-cell lymphomas (Schlegelberger et al., 1994; Coignet et al., 1996; Le Baccon et al., 2001; Cook et al., 2004). Associated withinv(14)(q11q32) in 1 patient with angioimmunoblastic T-cell lymphoma (Schlegelberger et al., 1990) and miscellaneous anomalies in 7 patients with T-cell lymphomas (van Vloten et al., 1979; Sanada et al 1986; Godde-Salz et al., 1987; Kaneko et al., 1988; Hashimoto et al., 1995; Limon et al 1995; Itoyama et al 2001). Found in a sideline in 7 out of 16 CLL patients. Among them: in association with +12 in 3 (Ohtaki et al., 1986; Mould et al., 1996; Lopez et al., 2012), -X in 1 (Geisler et al., 1997), del(6)(q15q22) in 1 (Geisler et al .,1997), der(8;17)(q10;q10) in 1 (Geisler et al., 1997); and -1, +15 in 1 (Arif et al., 1995). |
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Figure 1. Partial karyotype showing an extra copy of chromosome X (A). Fluorescence in situ hybridization with centromeric CEP X/Y probe (Abbott Molecular, Vysis, US) showing 3 copies of chromosome X (red signal) in metaphase and interphase cells (B). | |
Genes involved and Proteins |
Note | Whole chromosome gain of an X chromosome has been described in various types of hematological malignancies, including malignant lymphomas. Additional sex chromosomes are usually part of complex karyotypes, representing secondary karyotypic alterations in a significant proportion of lymphomas, and less frequently in CLL. While extra X chromosome is a known numerical abnormality in these diseases, its gain as the sole acquired abnormality is not a common feature. Numerical X chromosome changes are often found in a sideline, indicative of a multistep pathogenesis, where X chromosome gain would likely represent a relatively early genetic event. However, it is unclear whether +X alone is capable of promoting oncogenesis or aberrant effects of the trisomy might allow direct acquisition of cancer-promoting mutations. |
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Citation |
This paper should be referenced as such : |
Adriana Zamecnikova |
+X solely in lymphomas |
Atlas Genet Cytogenet Oncol Haematol. 2018;22(9):382-387. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/plusXID1800.html |
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