i(X)(p10) in female patients

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 Disease Karyotype Author 1 32, F CML 46,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 CML 46,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 RA 46,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 RARS 46,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 RAEB 46,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 MDS 46,X,i(X)(p10),del(5)(q13q33)(6)/46,XX(14) Adeyinka et al, 2007 8 80, F MDS 46,X,i(X)(p10)(2)/46,XX(19) Adeyinka et al, 2007 9 38, F MDS 46,X,i(X)(p10)(2)/46,XX(18) Adeyinka et al, 2007 10 ?, F CMML 46,X,i(X)(p10)(20) MacGrogan et al, 2004 11 ?, F CMML 46,X,i(X)(p10) Chen et al, 2010 12 75, F CMML 46,X,i(X)(p10)(3)/46,idem,del(20)(q11q13)(28) Nacheva et al, 1995 13 74, F AML 47,X,i(X)(p10)x2(3)/48,idem,+8(21)/49,idem,+20(8) Hagemeier et al, 1981 14 79, F AML, M1 47,X,i(Xp10)x2(22) Fitzgerald et al, 1983 15 83, F AML, M2 46,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, M4 46,X,i(X)(p10)(5)/46,XX(7) Bao et al, 2006 17 ?, F AML 46,XX,inv(3)(q21q26)(1)/45,idem,-7(11)/45,idem,i(X)(p10),-1(8) Lugthart et al, 2010 18 32, F AML 47~50,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 ALL 48,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 NHL 47,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 MCL 44,-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 sclerosis 59~83,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 sclerosis 81-85,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 Thrombocytopenia 46,X,i(X)(p10)(11)/46,XX(9) Adeyinka et al, 2007 33 76, F Anemia 46,X,i(X)(p10)(6)/46,XX(14) Adeyinka et al, 2007 34 79, F Anemia, splenomegaly 46,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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