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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 /

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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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
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


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

62, F

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

76, F

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

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

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

73, F

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

80, F

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

38, F

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

?, F

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

?, F

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

75, F

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

74, F

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

79, F

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

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

74, F

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

?, F

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

32, F

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

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

62, F

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

3, F

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

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

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)

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

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)

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

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

80, F

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

74, F

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

80, F

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

84, F

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

49, F

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

76, F

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

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.


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).


Isochromosome (X)(p10) in hematologic disorders: FISH study of 14 new cases show three types of centromere signal patterns
Adeyinka A, Smoley S, Fink S, Sanchez J, Van Dyke DL, Dewald G
Cancer Genet Cytogenet 2007 Nov;179(1):25-30
PMID 17981211
A case of Down syndrome with acute lymphoblastic leukemia and isochromosome Xp
Baker JM, Coppes MJ, Roland B
Cancer Genet Cytogenet 2003 Nov;147(1):75-7
PMID 14580775
Prospective study of 174 de novo acute myelogenous leukemias according to the WHO classification: subtypes, cytogenetic features and FLT3 mutations
Bao L, Wang X, Ryder J, Ji M, Chen Y, Chen H, Sun H, Yang Y, Du X, Kerzic P, Gross SA, Yao L, Lv L, Fu H, Lin G, Irons RD
Eur J Haematol 2006 Jul;77(1):35-45
PMID 16573742
Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression
Barbouti A, Johansson B, Höglund M, Mauritzson N, Strömbeck B, Nilsson PG, Tanke HJ, Hagemeijer A, Mitelman F, Fioretos T
Genes Chromosomes Cancer 2002 Oct;35(2):127-37
PMID 12203776
Analyses on clinical characteristic and prognoses of 41 patients with chronic myelomonocytic leukemia in China
Chen B, Ma Y, Xu X, Wang X, Qin W, Ji M, Lin G
Leuk Res 2010 Apr;34(4):458-62
PMID 19631982
Twenty-six patients with hematologic disorders and X chromosome abnormalities
Dewald GW, Brecher M, Travis LB, Stupca PJ
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PMID 2790752
Genomic instability and recurrent breakpoints are main cytogenetic findings in Hodgkin's disease
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Haematologica 1999 Apr;84(4):298-305
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Fitzgerald PH, Morris CM, Fraser GJ, Giles LM, Hamer JW, Heaton DC, Beard ME
Cancer Genet Cytogenet 1983 Jan;8(1):51-66
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Hagemeijer A, Hählen K, Abels J
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t(1;3)(p36;p21) is a recurring therapy-related translocation
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This paper should be referenced as such :
Gindina T
i(X)(p10) in female patients;
Atlas Genet Cytogenet Oncol Haematol. in press
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