i(Xq10) in female patients

Abstract

Review on i(X)(q10) in female patients.

Keywords

Chromosome X; Acute lymphoblastic leukemia; Diffuse large B-cell lymphoma; Burkitt lymphoma; Chronic myelogenous leukemia; Myelodysplastic syndrome; Acute myeloid leukemia.

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9811/3 B lymphoblastic leukaemia/lymphoma, NOS
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	9687/3 Burkitt lymphoma
ICD-Morpho	9690/3 Follicular lymphoma; Paediatric follicular lymphoma
ICD-Morpho	9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho	9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho	9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho	9874/3 AML with maturation
ICD-Morpho	9896/3 AML with t(8;21)(q22;q22); RUNX1-RUNX1T1
Atlas_Id	1493
	Figure 1. Partial karyotypes (G-banding) with i(X)(q10)

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).

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). 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.

Cytogenetics

Additional anomalies

As a single anomaly, isochromosome Xq was described only in two cases of myeloid malignancies (Debiek-Rychter et al, 1985; Wilkens et al, 1998). Double extra i(X)(q10) was present in 5 patients (Ueda et al, 1997; Wilkens et al, 1998; Horsman et al, 2001; Dave et al, 2002; Pang et al, 2015). Additional chromosome abnormalities were observed in 26/28 patients. i(X)(q10) has been demonstrated in six cases with RUNX1 / RUNX1T1 AML (Shiraishi et al, 1982; Minamihisamatsu et al, 1988; Tien et al, 1988; Kwong et al, 1993; Ma et al, 1997; Paskulin et al, 1998) , two cases with TCF3 / PBX1 ALL (Pui et al, 1990; Gindina T, table 1, #18) and one case with KMT2A / AFF1 (Arthur et al, 1982). Associated in combination with other isochromosomes in 4 patients (Dave et al, 2002; Adeyinka et al, 2007; Trcic et al, 2010; Pang et al, 2015), del(9q) in 3 patients (Tien et al, 1988; Han et al, 2002; Gindina T, table 1, #19) and extra chromosome 21 in 2 (Kearns et al., 2004; Pui et al., 1992). In lymphomas, i(X)(q10) is usually part of a complex karyotype.

Result of the chromosomal anomaly

Fusion Protein

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.

Bibliography

Loss of 17p is a major consequence of whole-arm chromosome translocations in hematologic malignancies.

Adeyinka A, Wei S, Sanchez J, et al.

Cancer Genet Cytogenet. 2007;173(2):136-143.

PMID 17981211

Translocation 4;11 in acute lymphoblastic leukemia: clinical characteristics and prognostic significance.

Arthur DC, Bloomfield CD, Lindquist LL, et al.

Blood. 1982;59(1):96-99

PMID 6947832

Nonrandom chromosome abnormalities in lymphoma.

Bloomfield CD, Arthur DC, Frizzera G, et al.

Cancer Res. 1983;43(6):2975-2984.

PMID 6850608

Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization.

Dave BJ, Nelson M, Pickering DL, et al.

Cancer Genet Cytogenet. 2002;132(2):125-132.

PMID 11850073

Isochromosome X in acute myeloblastic leukemia.

Debiec-Rychter M, Kaluzewski B, Bugala I, et al.

Cancer Genet Cytogenet. 1985;15(1-2):137-141.

PMID 3855374

Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis, a summary of 154 cases.

Fan YS, Rizkalla K.

Cancer Genet Cytogenet. 2003;143(1):73-79.

PMID 12742158

Structural abnormalities of the X chromosome in non-Hodgkin's lymphoma.

Goyns MN, Hammond DW, Harrison CJ, et al.

Leukemia. 1993;7(6):848-852.

PMID 8501979

Unrelated clonal chromosome abnormalities in myelodysplastic syndromes and acute myeloid leukemias.

Han JY, Kim KH, Kwon HC, et al.

Cancer Genet Cytogenet. 2002;132(2):156-158.

PMID 11850080

Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group.

Heerema NA, Sather HN, Sensel MG, et al.

J Clin Oncol. 1998;16(4):1270-1278

PMID 9552025

Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).

Horsman DE, Connors JM, Pantzar T, Gascoyne RD.

Genes Chromosomes Cancer. 2001;30(4):375-382.

PMID 11241790

Cytogenetic evolution patterns in CML post-SCT.

Karrman K, Sallerfors B, Lenhoff S,, et al.

Bone Marrow Transplant. 2007;39(3):165-171.

PMID 17211433

Centrosome amplification and aneuploidy in bone marrow failure patients.

Kearns WG, Yamaguchi H, Young NS, et al.

Genes Chromosomes Cancer. 2004;40(4):329-333.

PMID 15188456

8;21 translocation and multilineage inolvement.

Kwong YL, Ching LM, Liu HW, et al.

Am J Hematol. 1993;43(3):212-216.

PMID 8352238

Hematological features and treatment outcome in acute myeloid leukemia with t(8;21).

Ma SK, Au WY, Kwong YL, et al.

Hematol Oncol. 1997;15(2):93-103.

PMID 9375034

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, Ishihara T.

Cancer Genet Cytogenet. 1998 ;33(2):161-173.

PMID 3164243

Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia.

Pang CS, Pettenati MJ, Pardee TS.

J Clin Pathol. 2015;68(3):236-240.

PMID 25563333

Pre-clinical evaluation of probes to detect t(8;21) AML minimal residual disease by fluorescence in situ hybridization.

Paskulin GA, Philips G, Morgan R, et al.

Genes Chromosomes Cancer. 1998;21(2):144-151.

PMID 9491326

Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases.

Pui CH, Carroll AJ, Raimondi Sc, et al.

Blood. 1992;79(9):2384-2391.

PMID 1571550

Diagnostic and prognostic significance of chromosome abnormalities in marrow and mitogen response of lymphocytes of acute nonlymphocytic leukemia.

Shiraishi Y, Taguchi H, Niiya K, et al.

Cancer Genet Cytogenet. 1982;5(1):1-24.

PMID 6950804

Chromosome studies on 30 Chinese patients with acute nonlymphocytic leukemia in Taiwan.

Tien HF, Wang CH, Lee FY, et al.

Cancer Genet Cytogenet. 1988;32(1):101-108.

PMID 3162701

Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node.

Trcic RL, Sustercic D, Kuspilic M, et al.

Coll Antropol. 2010;34(2):387-393.

PMID 20698107

Interphase detection of BCL6/IGH fusion gene in non-Hodgkin lymphoma by fluorescence in situ hybridization.

Ueda Y, Nishida K, Horiike S,, et al.

Cancer Genet Cytogenet. 1997;99(2):102-107.

PMID 9398863

Analysis of hematologic disease using conventional karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).

Wilkens L, Tchinda J, Burkhardt D, et al.

Hum Pathol. 1998;29(8):833-839.

PMID 9712425

Citation

This paper should be referenced as such :

Gindina T

i(Xq10) in female patients;

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/iXq10FemaleID1493.html

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