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.

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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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