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

(Note : for Links provided by Atlas : click)

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).

Bibliography

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

Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts Cancer Genet Cytogenet

PMID 2790752

Genomic instability and recurrent breakpoints are main cytogenetic findings in Hodgkin's disease

Falzetti D, Crescenzi B, Matteuci C, Falini B, Martelli MF, Van Den Berghe H, Mecucci C

Haematologica 1999 Apr;84(4):298-305

PMID 10190942

Nonrandom cytogenetic changes in New Zealand patients with acute myeloid leukemia

Fitzgerald PH, Morris CM, Fraser GJ, Giles LM, Hamer JW, Heaton DC, Beard ME

Cancer Genet Cytogenet 1983 Jan;8(1):51-66

PMID 6572548

Cytogenetic follow-up of patients with nonlymphocytic leukemia

Hagemeijer A, Hählen K, Abels J

II Acute nonlymphocytic leukemia

PMID 6944153

Chromosome instability is associated with hypodiploid clones in myelodysplastic syndromes

Knuutila S, Teerenhovi L, Borgström GH

Hereditas 1984;101(1):19-30

PMID 6490390

Clinical, molecular, and prognostic significance of WHO type inv(3)(q21q26

Lugthart S, Gröschel S, Beverloo HB, Kayser S, Valk PJ, van Zelderen-Bhola SL, Jan Ossenkoppele G, Vellenga E, van den Berg-de Ruiter E, Schanz U, Verhoef G, Vandenberghe P, Ferrant A, Köhne CH, Pfreundschuh M, Horst HA, Koller E, von Lilienfeld-Toal M, Bentz M, Ganser A, Schlegelberger B, Jotterand M, Krauter J, Pabst T, Theobald M, Schlenk RF, Delwel R, Döhner K, Löwenberg B, Döhner H

2)/t(3;3)(q21;q26 2) and various other 3q abnormalities in acute myeloid leukemia

PMID 20660833

Structural integrity and expression of the L3MBTL gene in normal and malignant hematopoietic cells

MacGrogan D, Kalakonda N, Alvarez S, Scandura JM, Boccuni P, Johansson B, Nimer SD

Genes Chromosomes Cancer 2004 Nov;41(3):203-13

PMID 15334543

Characterization of 20q deletions in patients with myeloproliferative disorders or myelodysplastic syndromes

Nacheva E, Holloway T, Carter N, Grace C, White N, Green AR

Cancer Genet Cytogenet 1995 Apr;80(2):87-94

PMID 7736443

Preiss BS, Bergmann OJ, Friis LS, Sørensen AG, Frederiksen M, Gadeberg OV, Mourits-Andersen T, Oestergaard B, Kerndrup GB; AML Study Group of Southern Denmark

Cytogenetic findings in adult secondary acute myeloid leukemia (AML): frequency of favorable and adverse chromosomal aberrations do not differ from adult de novo AML Cancer Genet Cytogenet

PMID 20875873

t(1;3)(p36;p21) is a recurring therapy-related translocation

Sato Y, Izumi T, Kanamori H, Davis EM, Miura Y, Larson RA, Le Beau MM, Ozawa K, Rowley JD

Genes Chromosomes Cancer 2002 Jun;34(2):186-92

PMID 11979552

Cytogenetic findings and results of combined immunophenotyping and karyotyping in Hodgkin's disease

Schlegelberger B, Weber-Matthiesen K, Himmler A, Bartels H, Sonnen R, Kuse R, Feller AC, Grote W

Leukemia 1994 Jan;8(1):72-80

PMID 8289502

Philadelphia-positive chronic myelogenous leukemia with typical bcr/abl molecular features and atypical, prolonged survival

Selleri L, Emilia G, Temperani P, Grassilli E, Zucchini P, Tagliafico E, Bonati A, Venezia L, Ferrari S, Torelli U, et al

Leukemia 1989 Jul;3(7):538-42

PMID 2733455

Chromosome rearrangements at telomeric level in hematologic disorders

Temperani P, Giacobbi F, Gandini G, Torelli U, Emilia G

Cancer Genet Cytogenet 1995 Sep;83(2):121-6

PMID 7553581

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

External links

arrayMap (UZH-SIB Zurich)	Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9945/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9980/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9982/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9983/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9873/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9874/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9867/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9663/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)	Morph ( 9673/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed
All articles	automatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Tue Mar 12 13:10:49 CET 2019

For comments and suggestions or contributions, please contact us