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i(X)(p10) in female patients

Written2016-12Tatiana 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)(p10) in female patients

Keywords Chromosome X; Acute lymphoblastic leukaemia, Chronic myelogenous leukaemia; hronic myelomonocytic leukaemia; Refractory anaemia, Myelodysplastic syndrome; Therapy-related myeloid neoplasms, Acute myeloid leukaemia; Nodular sclerosis classical Hodgkin lymphoma; Mantle cell lymphoma

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Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9945/3 Chronic myelomonocytic leukaemia
ICD-Morpho 9980/3 Refractory anemia
ICD-Morpho 9982/3 Refractory anemia with ring sideroblasts associated with marked thrombocytosis; Refractory anaemia with ring sideroblasts
ICD-Morpho 9983/3 Refractory anaemia with excess blasts
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9873/3 AML without maturation
ICD-Morpho 9874/3 AML with maturation
ICD-Morpho 9867/3 Acute myelomonocytic leukaemia
ICD-Morpho 9663/3 Nodular sclerosis classical Hodgkin lymphoma
ICD-Morpho 9673/3 Mantle cell lymphoma
Atlas_Id 1500
 
  Figure 1 Partial karyotype with extra i(X)(p10)

Clinics and Pathology

Disease i(X)(p10) occurs in a wide spectrum of hematologic malignancies, in both myeloid and lymphoid disorders, including MDS, CMML, CML, de novo and therapy-related AML, ALL, NHL and Hodgkin lymphoma.
Myelodysplastic syndrome (MDS) was diagnosed in 7 patients (Adeyinka et al., 2007), 2 of them with refractory anaemia with ring sideroblasts (RARS) (Knuutila et al., 1984; Dewald et al., 1989), one patient with refractory anaemia (RA) (Adeyinka et al., 2007) and one with refractory anaemia with excess blasts (RAEB)(Sato et al., 2002).
Chronic myelomonocytic leukaemia (CMML): 3 patients (MacGrogan et al., 2004; Chen et al., 2010; Nacheva et al., 1995).
Chronic myeloid leukemia (CML): 2 patients (Selleri et al., 1989; Barbouti et al., 2002).
Acute myeloid leukemia (AML): there were 8 patients with different variants of AML: 1 AML-M1 (Fitzerald et al., 1983), 1 AML-M2 (Dewald et al., 1989), 1 AML-M4 (Bao et al., 2006), 2 therapy-related AML (Preiss et al., 2010; Adeyinka et al., 2007).
Acute lymphoblastic leukemia (ALL): 3 patients. Two of them with relapse after chemotherapy (Adeyinka et al., 2007) and allo-HSCT (Gindina, own case, table 1, #23), one patient with Down syndrome (Baker et al., 2003).
Hodgkin lymphoma, nodular sclerosis (HL) was diagnosed in 2 patients (Falzetti et al., 2005; Schlegelberger et al., 1994).
Non Hodgkin lymphoma (NHL): 1 patient (Temperani et al., 1995).
Mantle cell lymphoma (MCL): 1 patient (Gindina, own case, table 1, #25).
Cytopenias: 3 patients (Adeyinka et al., 2007), 2 of them with anaemia, one with thrombocytopenia.
Epidemiology i(X)(p10) is observed as the sole abnormality in myeloid malignancies and has been demonstrated in females of advanced age. Nonetheless, this abnormality has been observed seldom in younger patients with AML, ALL, Hodgkin lymphoma, NHL. The median age of female patients is 60 years (range, 3 - 83 years).
Table 1. Reported cases with i(X)(q10).
#

Age, gender

DiseaseKaryotypeAuthor
1

32, F

CML46,XX,t(9;22)(q34;q11)(8)/47,X,i(X)(p10),t(9;22),+22(8)/48,i(X)(p10)x2,+X,t(9;22),+22(16)Selleri et al, 1989
2

50, F

CML46,X,i(X)(p10),t(9;22)(q34;q11),i(17)(q10)(9)/50,idem,+1,+8,+13,+19(2)Barbouti et al, 2002
3

62, F

RA46,X,i(X)(p10)(5)/46,XX(15) Adeyinka et al, 2007
4

76, F

RARS 46,X,i(X)(p10)(22)Knuutila et al, 1984
5

74, F

RARS46,X,i(X)(p10)(3)/47,idem,+idic(X)(q13)(2)/47,X,idic(X),+idic(X)(4)/46,XX(10) Dewald et al, 1989
6

87, F

RAEB46,X,del(X)(q22q26),+i(X)(p10),t(1;3)(p36;p21),der(6)del(6)(p23p25)del(6)(q1?5q2?5),add(7)(q32),-8, add(9)(p?11),add(11)(q23),t(12;13)(q11;q12),-14,+16,-18,inv(19)(p13q11),+mar(2)/47,idem, +add(14)(q32)(3)/46,idem,der(1)t(1;3)t(1;14)(p32;q32),der(3)t(1;3),der(14)t(1;14)(2)/46,idem, der(1),t(1;3), der(3),der(14),add(17)(p1?3)(2)/46,XX(21)Sato et al, 2002
7

73, F

MDS46,X,i(X)(p10),del(5)(q13q33)(6)/46,XX(14) Adeyinka et al, 2007
8

80, F

MDS46,X,i(X)(p10)(2)/46,XX(19)Adeyinka et al, 2007
9

38, F

MDS46,X,i(X)(p10)(2)/46,XX(18)Adeyinka et al, 2007
10

?, F

CMML46,X,i(X)(p10)(20)MacGrogan et al, 2004
11

?, F

CMML46,X,i(X)(p10)Chen et al, 2010
12

75, F

CMML46,X,i(X)(p10)(3)/46,idem,del(20)(q11q13)(28)Nacheva et al, 1995
13

74, F

AML47,X,i(X)(p10)x2(3)/48,idem,+8(21)/49,idem,+20(8)Hagemeier et al, 1981
14

79, F

AML, M147,X,i(Xp10)x2(22) Fitzgerald et al, 1983
15

83, F

AML, M246,X,idic(X)(q13)(3)/47,idem,+idic(X)(2)/46,X,i(X)(p10)(2)46~50,X,i(X)(p10),+8,+2mar(3)/46,XX(4) Dewald et al, 1989
16

74, F

AML, M446,X,i(X)(p10)(5)/46,XX(7)Bao et al, 2006
17

?, F

AML46,XX,inv(3)(q21q26)(1)/45,idem,-7(11)/45,idem,i(X)(p10),-1(8)Lugthart et al, 2010
18

32, F

AML47~50,XX,+i(X)(p10)x2,+8,+9(cp16)/46,XX(5)Adeyinka et al, 2007
19

68, F

t-AML, M1 46,XX,del(20)(q11)(5)/45,X,i(X)(p10),-7,del(20)(q11)(20)Preiss et al, 2010
20

62, F

t-AML 46,X,i(X)(p10)(17)/46,XX(3)Adeyinka et al, 2007
21

3, F

ALL48,XX,+i(X)(p10),+21c(12)/47,XX,+21c(10)Baker et al, 2003
22

17, F

ALL (relapse after CT) 45,X,-X,r(20)(10)/46,X,i(X)(p10),r(20)(7)/46,XX(3)Adeyinka et al, 2007
23

25, F

Common ALL (relapse after alloHSCT) 49,XX.ish+i(X)(p10),+1,t(1;7)(p13;q11),t(2;3)(p?;q?),der(5)t(5;8)(q?;?),+6,der(6)t(6;9)(p?;?)t(6;9)(q?;?)ins(6;13)(q?;q?q?),der(6)t(6;15)(q?;q?),del(7)(p?), +8,der(8)t(2;8)(?;q?), der(8)t(8;14)(p?;q?),-13,der(15)t(5;15)(?;q?),del(15)(q?),der(20)t(15;20)(?;q?)(17)(24XCyte) Gindina T
(own case)
24

65, F

NHL47,X,i(X)(p10),add(2p),add(14q),-19,+22,+r(5)/47,idem,del(6q),add(16)(q24)(11)Temperani et al, 1995
25

58, F

MCL44,-X,i(X)(p10),del(1)(q31),add(6)(q27),t(11;14)(q13;q32),-13,add(17)(q25),add(21)(p11)(12)/46,XX(8)Gindina T
(own case)
26

18, F

Hodgkin disease, nodular sclerosis59~83,XXX,-X,i(X)(p10), -1,del(1)(q?),+2,add(2)(q37)x3,+3,del(3)(q26),-6,del(7)(q12q22),del(7)(q35), +8,del(8)(q24),-9,-10,-11,-11,del(11)(q12q13),+12,-13,-13, -14,-15,-16,-17,-17,-18,+20,del(20)(q11q13), add(20)(q13),-21,+4mar(cp6)/46,XX(164)Falzetti et al, 1999
27

26, F

Hodgkin disease, nodular sclerosis81-85,XX,-X,i(X)(p10),del(1)(p21),+i(2)(p10)x2,del(3)(q21),del(4)(q?25),i(4)(p10),i(4)(q10),+5,-6,-7,del(7)(q32),i(7)(q10),del(9)(q21q31),der(12)t (3;12)(q21;q22),-13,-13,-15,+16,del(17)(p11),-18,-18,-20,add(20)(q13),-22,-22,-22,i(22)(q10),+mar(8)Schlegelberger et al. 1994
28

80, F

?46,X,i(X)(p10)(14) Adeyinka et al, 2007
29

74, F

?49,XX,+i(X)(p10),+8,+i(11)(q10)(17)/50,idem,+5(cp2)/46,XX(1)Adeyinka et al, 2007
30

80, F

?46,XX,i(17)(q10)(15)/46,X,i(X)(p10),i(17)(q10)(2)/46,XX(3)Adeyinka et al, 2007
31

84, F

?46,X,i(X)(p10)(14)/47,X,i(X)(p10),+8(2)/46,XX(2)Adeyinka et al, 2007
32

49, F

Thrombocytopenia46,X,i(X)(p10)(11)/46,XX(9) Adeyinka et al, 2007
33

76, F

Anemia46,X,i(X)(p10)(6)/46,XX(14) Adeyinka et al, 2007
34

79, F

Anemia, splenomegaly46,X,i(X)(p10)(16)/46,XX,t(9;12)(p23;q22)(3)/46,XX(2)Adeyinka et al, 2007
Prognosis Survival was 8, 25 months (Dewald et al, 1989, cases # 15, #4) and 11+, 12+ months (Gindina, cases #25, #23 , table 1) in the four cases where information was provided.

Cytogenetics

Note There is a problem of distinguishing i(X)(p10) from del(X)(q24) because of the similarity of X p-arm band pattern and X q-arm band pattern extending from the centromere to band Xq24.
 
  Figure 2. Partial karyotypes with extra i(X)(p10); Fluorescence in situ hybridization (FISH) with BreakApart CRLF2/Xp22.33 (CytoCell, UK) showing two normal X chromosomes and extra i(X)(p10) (4 fusion signals on interphase cells) in female patient with post-transplant relapse of ALL (Gindina, #23, table 1)
Probes CRLF2 BreakApart (CytoCell, UK)
Additional anomalies Sole abnormality in 11 patients, mostly in myeloid neoplasms (4 MDS, 3 AML, 2 CMML). Double extra i(X)(p10) was present in 4 patients (Selleri et al., 1989; Adeyinka et al., 2007; Hagemeier et al., 1981; Fitzerald et al., 1983). Additional chromosome anomalies were observed in 2/3 patients. Associated in combination with extra chromosome 8 in 5 females (Barbouti et al., 2002; Hagemeier et al., 1981; Dewald et al., 1989; Adeyinka et al., 2007), idic(X)(q13) in 2 (Dewald et al., 1989), del(20q) in 3 (Nacheva et al., 1995; Preiss et al., 2010; Falzetti et al., 1999), extra chromosome 20in 2 (Hagemeier et al., 1981;), loss of chromosome 7 in 2 (Lugthart et al., 2010; Schlegelberger et al. 1994), del(7q) in 2 (Falzetti et al., 1999; Schlegelberger et al. 1994), ring chromosome in 2 (Adeyinka et al., 2007; Temperani et al, 1995), other isochromosomes in 3 (Barbouti et al., 2002; Schlegelberger et al. 1994, Adeyinka et al., 2007).
In lymphoid malignancies, i(X)(p10) is part of a complex karyotype and seems to be a secondary event.

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis The pathogenetic importance of i(X)(p10) is underscored by its presence as the sole acquired anomaly. The major consequence of this abnormality is loss of the X q-arm and gain of the X p-arm, this would translate to loss of several genes on Xq and gain of several genes on Xp, that leads to genetic imbalance. I(X)(p10) has been reported in occasional males, indicating that this aberration can arise from active X chromosomes. It is not known whether this anomaly arises randomly from the active or inactive X chromosome in female patients (Adeyinka et al, 2007).
  

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Citation

This paper should be referenced as such :
Gindina T
i(X)(p10) in female patients;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/iXp10FemaleID1500.html


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