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i(Xq10) in female patients

Written2017-02Tatiana Gindina
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 / tatgindina@gmail.com

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).
PtsAge, genderDiseaseKaryotypeAuthor
140, FCML46,X,i(X)(q10),del(1),t(9;22),t(17;17)(q12;q25)Karrman et al, 2007
2?, FCML46,X,i(X)(q10),t(9;22)/47,idem,+der(22)t(9;22)Lyall&Garson, 1978
3?, FMDS47,X,i(X)(q10),+21Kearns et al, 2004
4?, FMDS47,XX,+i(X)(q10)Wilkens et al, 1998
554, FAML (M2)45,X,-X,del(9)(q12q22)[6]/46,X,i(X)(q10)[6]Han et al, 2002
6?, FAML (M2)46,X,i(X)(q10),t(8;21)(q22;q22)Kwong et al, 1993
733, FAML (M2)46,X,i(X)(q10),t(8;21)(q22;q22)[5]/46,XX[3]Ma et al, 1997
8?, FAML (M2)47,X,i(X)(q10),+8,t(8;21)(q22;q22)Minamihisamatsu et al, 1988
945, FAML (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,+4marPang et al, 2015
1030, FAML (M2)46,X,i(X)(q10),t(8;21)(q22;q22)/46,idem,del(9)(q13q22)Tien et al, 1988
11?, FAML (M2)46,XX,t(8;21)(q22;q22)/46,idem,i(X)(q10)[7]/45,idem,-X[5]Paskulin et al, 1998
1240, FAML, (M2)46,X,i(X)(q10),t(8;21)(q22;q22)Shiraishi et al, 1982
1310, FAML, NOS46,X,i(X)(q10)Debiec-Rychter et al, 1985
14?, FALL47,X,i(X)(q10),t(10;11)(p13;q13),+19Heerema et al, 1998
150,9, FALL44,X,i(X)(q10),-7,-8,der(10)t(8;10)(q11;p13),der(19)t(1;19)(q23;p13)Pui et al, 1990
164,5, FALL47,X,i(X)(q10),+21Pui et al, 1992
1731, FRelapse of ALL after CT46,X,i(X)(q10),t(4;11)(q21;q23)Arthur et al, 1982
1812, FRelapse of ALL after CT46,X,i(X)(q10),der(19)t(1;19)(q23;p13)[3]/46,XX[17]Gindina T, own case
1922, FRelapse of ALL after CT48,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?, FFL69-72,X,i(X)(q10)x2,+X,+1,-3,add(10)(q26),+11,-14,t(14;18)(q32;q21),+21,+22Fan and Rizkalla, 2003
21?, FFL49,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,idemx2Horsman et al, 2001
22?, FFL46,X,i(X)(q10),t(11;21)(q23;q22),t(14;18)(q32;q21)Horsman et al, 2001
23?, FBL49,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?, FBL46,XX,dup(1)(q21q31),i(7)(q10),t(8;14)(q24;q32)/46,idem,i(X)(q10)Trcic et al, 2010
258, FDLBCL49,X,i(X)(q10),+2,t(3;22)(q21;q11),del(6)(p21),+7,t(8;14)(q24;q32),+10Bloomfield et al, 1983
26?, FDLBCL48,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
2743, FMature B-cell neoplasm, NOS46-50,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?, FMature B-cell neoplasm, NOS47,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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