i(Xq10) in female patients
2017-02-01 Tatiana Gindina Affiliation1.R.M. Gorbacheva Research Institute of Pediatric Oncology Hematology and Transplantation at First Saint-Petersburg State Medical University named I.P.Pavlov, Saint-Petersburg, Russia / [email protected]
Abstract
Review on i(X)(q10) in female patients.
Clinics and Pathology
Disease
i(X)(q10) occurs in a variety of hematologic malignancies, in both myeloid and lymphoid disorders, including ALL, NHL, AML, MDS and CML.
Chronic myeloid leukemia (CML): 2 patients (Lyall and Garson, 1978; Karrman et al., 2007).
Myelodysplastic syndrome (MDS) was diagnosed in 2 patients (Wilkens et al, 1998; Kearns et al., 2004).
Acute myeloid leukemia (AML): there were 8 patients with AML-M2, six of them had translocation t(8;21)(q22;q22) (Shiraishi et al, 1982; Minamihisamatsu et al, 1988; Tien et al, 1988; Kwong et al, 1993; Ma et al, 1997; Paskulin et al, 1998).
Acute lymphoblastic leukemia (ALL): was diagnosed in 6 patients. Three of them with relapse of ALL after chemotherapy (CT) (Arthur et al., 1982; Gindina T, own cases, table 1,#18, #19), two patients had unbalanced translocation t(1;19)(q23;p13) (Pui et al, 1990; Gindina T, table 1, #18), one patient had translocation t(4;11)(q21;q23) (Arthur et al, 1982).
Follicular lymphoma (FL): 3 patients (Horsman et al, 2001; Fan and Rizkalla 2003).
Burkitt lymphoma (BL) was diagnosed in 2 patients (Goyns et al., 1993; Trcic et al., 2010).
Diffuse large B-cell lymphoma (DLBCL): 2 patients (Bloomfield et al., 1983; Dave et al, 2002).
Mature B-cell neoplasm : 2 patients (Ueda et al, 1997; Adeyinka et al, 2007).
Chronic myeloid leukemia (CML): 2 patients (Lyall and Garson, 1978; Karrman et al., 2007).
Myelodysplastic syndrome (MDS) was diagnosed in 2 patients (Wilkens et al, 1998; Kearns et al., 2004).
Acute myeloid leukemia (AML): there were 8 patients with AML-M2, six of them had translocation t(8;21)(q22;q22) (Shiraishi et al, 1982; Minamihisamatsu et al, 1988; Tien et al, 1988; Kwong et al, 1993; Ma et al, 1997; Paskulin et al, 1998).
Acute lymphoblastic leukemia (ALL): was diagnosed in 6 patients. Three of them with relapse of ALL after chemotherapy (CT) (Arthur et al., 1982; Gindina T, own cases, table 1,#18, #19), two patients had unbalanced translocation t(1;19)(q23;p13) (Pui et al, 1990; Gindina T, table 1, #18), one patient had translocation t(4;11)(q21;q23) (Arthur et al, 1982).
Follicular lymphoma (FL): 3 patients (Horsman et al, 2001; Fan and Rizkalla 2003).
Burkitt lymphoma (BL) was diagnosed in 2 patients (Goyns et al., 1993; Trcic et al., 2010).
Diffuse large B-cell lymphoma (DLBCL): 2 patients (Bloomfield et al., 1983; Dave et al, 2002).
Mature B-cell neoplasm : 2 patients (Ueda et al, 1997; Adeyinka et al, 2007).
Epidemiology
I(X)(q10) has been observed in female patients with a median age of 27 years (range, 0,9 to 54 years).
Table 1. Reported cases with i(X)(q10).
CML: Chronic myeloid leukemia; MDS: Myelodysplastic syndrome; AML: Acute myeloid leukemia; ALL: Acute lymphoblastic leukemia; FL: Follicular lymphoma; BL: Burkitt lymphoma; DLBCL: Diffuse large B-cell lymphoma; CT: chemotherapy; NOS not otherwise specified.
Table 1. Reported cases with i(X)(q10).
| Pts | Age, gender | Disease | Karyotype | Author |
| 1 | 40, F | CML | 46,X,i(X)(q10),del(1),t(9;22),t(17;17)(q12;q25) | Karrman et al, 2007 |
| 2 | ?, F | CML | 46,X,i(X)(q10),t(9;22)/47,idem,+der(22)t(9;22) | Lyall&Garson, 1978 |
| 3 | ?, F | MDS | 47,X,i(X)(q10),+21 | Kearns et al, 2004 |
| 4 | ?, F | MDS | 47,XX,+i(X)(q10) | Wilkens et al, 1998 |
| 5 | 54, F | AML (M2) | 45,X,-X,del(9)(q12q22)[6]/46,X,i(X)(q10)[6] | Han et al, 2002 |
| 6 | ?, F | AML (M2) | 46,X,i(X)(q10),t(8;21)(q22;q22) | Kwong et al, 1993 |
| 7 | 33, F | AML (M2) | 46,X,i(X)(q10),t(8;21)(q22;q22)[5]/46,XX[3] | Ma et al, 1997 |
| 8 | ?, F | AML (M2) | 47,X,i(X)(q10),+8,t(8;21)(q22;q22) | Minamihisamatsu et al, 1988 |
| 9 | 45, F | AML (M2) | 88,XXYY,+i(X)(q10)x2,i(1)(q10),dup(2)(q11q21)x2,del(3)(q21),del(5)(q13q35)x2,-6,-6,-9,-9,-12,i(12)(q10),-15,-15,-17,-17,-21,add(21)(q22),add(22)(q12)x2,+4mar | Pang et al, 2015 |
| 10 | 30, F | AML (M2) | 46,X,i(X)(q10),t(8;21)(q22;q22)/46,idem,del(9)(q13q22) | Tien et al, 1988 |
| 11 | ?, F | AML (M2) | 46,XX,t(8;21)(q22;q22)/46,idem,i(X)(q10)[7]/45,idem,-X[5] | Paskulin et al, 1998 |
| 12 | 40, F | AML, (M2) | 46,X,i(X)(q10),t(8;21)(q22;q22) | Shiraishi et al, 1982 |
| 13 | 10, F | AML, NOS | 46,X,i(X)(q10) | Debiec-Rychter et al, 1985 |
| 14 | ?, F | ALL | 47,X,i(X)(q10),t(10;11)(p13;q13),+19 | Heerema et al, 1998 |
| 15 | 0,9, F | ALL | 44,X,i(X)(q10),-7,-8,der(10)t(8;10)(q11;p13),der(19)t(1;19)(q23;p13) | Pui et al, 1990 |
| 16 | 4,5, F | ALL | 47,X,i(X)(q10),+21 | Pui et al, 1992 |
| 17 | 31, F | Relapse of ALL after CT | 46,X,i(X)(q10),t(4;11)(q21;q23) | Arthur et al, 1982 |
| 18 | 12, F | Relapse of ALL after CT | 46,X,i(X)(q10),der(19)t(1;19)(q23;p13)[3]/46,XX[17] | Gindina T, own case |
| 19 | 22, F | Relapse of ALL after CT | 48,X,i(X)(q10),add(1)(q32),-2,-3,add(6)(q23),-7,add(7)(p15),del(9)(q22),+11,add(11)(q23),-12,-17,-19,-21,+10mar[2]/46,XX[18] | Gindina T, own case |
| 20 | ?, F | FL | 69-72,X,i(X)(q10)x2,+X,+1,-3,add(10)(q26),+11,-14,t(14;18)(q32;q21),+21,+22 | Fan and Rizkalla, 2003 |
| 21 | ?, F | FL | 49,XX,+i(X)(q10),add(1)(p36),+der(1)t(1;15)(p13;q11),add(6)(q25),?inv(7)(q21q31),del(9)(p13),dup(12)(q13q22),t(14;18)(q32;q21),-15,-16,+18,der(18)t(7;18)(q22;q23)x2,add(19)(q13),+21,+mar/ 98,idemx2 | Horsman et al, 2001 |
| 22 | ?, F | FL | 46,X,i(X)(q10),t(11;21)(q23;q22),t(14;18)(q32;q21) | Horsman et al, 2001 |
| 23 | ?, F | BL | 49,X,i(X)(q10),+2,+3,+del(6)(q?15),t(9;13)(p13;q32),der(10)t(X;10)(q13;p13),der(14)t(1;14)(q25;q32) | Goyns et al, 1993 |
| 24 | ?, F | BL | 46,XX,dup(1)(q21q31),i(7)(q10),t(8;14)(q24;q32)/46,idem,i(X)(q10) | Trcic et al, 2010 |
| 25 | 8, F | DLBCL | 49,X,i(X)(q10),+2,t(3;22)(q21;q11),del(6)(p21),+7,t(8;14)(q24;q32),+10 | Bloomfield et al, 1983 |
| 26 | ?, F | DLBCL | 48,XX,+i(X)(q10),+5,dup(6)(p21p25),i(7)(q10),der(10)t(6;10)(p21;p15)[19]/46,XX[1] | Dave et al, 2002 |
| 27 | 43, F | Mature B-cell neoplasm, NOS | 46-50,X,i(X)(q10),add(1)(q24),-2,-3,add(3)(p13),i(4)(p10),del(6)(q14q27), add(7)(q32),der(10;17)(q10;q10),+11,-14,+15, +2-5mar[cp20] | Adeyinka et al, 2007 |
| 28 | ?, F | Mature B-cell neoplasm, NOS | 47,XY,+i(X)(q10),add(1)(q21),+dic(1;19)(p10;p13),t(3;14)(q27;q32),t(7;11)(q22;q23),del(13)(q14q22),add(19)(p13) | Ueda at al, 1997 |
CML: Chronic myeloid leukemia; MDS: Myelodysplastic syndrome; AML: Acute myeloid leukemia; ALL: Acute lymphoblastic leukemia; FL: Follicular lymphoma; BL: Burkitt lymphoma; DLBCL: Diffuse large B-cell lymphoma; CT: chemotherapy; NOS not otherwise specified.
Genes Involved and Proteins
Result of the Chromosomal Anomaly
Oncogenesis
As a result of the formation of the isochromosome, there is the loss of a normal X chromosome, and the structural abnormality leads to monosomy for Xp and trisomy for Xq. It is not known whether the overexpression of a proto-oncogene (or other gene) or the deletion of a tumor-suppressor gene from the isochromosome contributes to development or proliferation of tumor cells in these cases.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17981211 | 2007 | Isochromosome (X)(p10) in hematologic disorders: FISH study of 14 new cases show three types of centromere signal patterns. | Adeyinka A et al |
| 6947832 | 1982 | Translocation 4; 11 in acute lymphoblastic leukemia: clinical characteristics and prognostic significance. | Arthur DC et al |
| 6850608 | 1983 | Nonrandom chromosome abnormalities in lymphoma. | Bloomfield CD et al |
| 11850073 | 2002 | Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization. | Dave BJ et al |
| 3855374 | 1985 | Isochromosome X in acute myeloblastic leukemia. | Debiec-Rychter M et al |
| 12742158 | 2003 | Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis. a summary of 154 cases. | Fan YS et al |
| 8501979 | 1993 | Structural abnormalities of the X chromosome in non-Hodgkin's lymphoma. | Goyns MH et al |
| 11850080 | 2002 | Unrelated clonal chromosome abnormalities in myelodysplastic syndromes and acute myeloid leukemias. | Han JY et al |
| 9552025 | 1998 | Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group. | Heerema NA et al |
| 11241790 | 2001 | Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18). | Horsman DE et al |
| 17211433 | 2007 | Cytogenetic evolution patterns in CML post-SCT. | Karrman K et al |
| 15188456 | 2004 | Centrosome amplification and aneuploidy in bone marrow failure patients. | Kearns WG et al |
| 8352238 | 1993 | 8;21 translocation and multilineage involvement. | Kwong YL et al |
| 9375034 | 1997 | Hematological features and treatment outcome in acute myeloid leukemia with t(8;21). | Ma SK et al |
| 3164243 | 1988 | Translocation (8;21) and its variants in acute nonlymphocytic leukemia. The relative importance of chromosomes 8 and 21 to the genesis of the disease. | Minamihisamatsu M et al |
| 25563333 | 2015 | Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia. | Pang CS et al |
| 9491326 | 1998 | Pre-clinical evaluation of probes to detect t(8;21) AML minimal residual disease by fluorescence in situ hybridization. | Paskulin GA et al |
| 1571550 | 1992 | Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases. | Pui CH et al |
| 6950804 | 1982 | Diagnostic and prognostic significance of chromosome abnormalities in marrow and mitogen response of lymphocytes of acute nonlymphocytic leukemia. | Shiraishi Y et al |
| 3162701 | 1988 | Chromosome studies on 30 Chinese patients with acute nonlymphocytic leukemia in Taiwan. | Tien HF et al |
| 20698107 | 2010 | Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node. | Trcić RL et al |
| 9398863 | 1997 | Interphase detection of BCL6/IgH fusion gene in non-Hodgkin lymphoma by fluorescence in situ hybridization. | Ueda Y et al |
| 9712425 | 1998 | Analysis of hematologic diseases using conventional karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). | Wilkens L et al |
Summary
Figure 1. Partial karyotypes (G-banding) with i(X)(q10)
Citation
Tatiana Gindina
i(Xq10) in female patients
Atlas Genet Cytogenet Oncol Haematol. 2017-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1493/haematological-explorer/teaching-explorer/
