i(Xq10) in female patients

2017-02-01   Tatiana Gindina 

1.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.

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.

Result of the Chromosomal Anomaly

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.

Bibliography

Pubmed IDLast YearTitleAuthors
179812112007Isochromosome (X)(p10) in hematologic disorders: FISH study of 14 new cases show three types of centromere signal patterns.Adeyinka A et al
69478321982Translocation 4; 11 in acute lymphoblastic leukemia: clinical characteristics and prognostic significance.Arthur DC et al
68506081983Nonrandom chromosome abnormalities in lymphoma.Bloomfield CD et al
118500732002Cytogenetic characterization of diffuse large cell lymphoma using multi-color fluorescence in situ hybridization.Dave BJ et al
38553741985Isochromosome X in acute myeloblastic leukemia.Debiec-Rychter M et al
127421582003Comprehensive cytogenetic analysis including multicolor spectral karyotyping and interphase fluorescence in situ hybridization in lymphoma diagnosis. a summary of 154 cases.Fan YS et al
85019791993Structural abnormalities of the X chromosome in non-Hodgkin's lymphoma.Goyns MH et al
118500802002Unrelated clonal chromosome abnormalities in myelodysplastic syndromes and acute myeloid leukemias.Han JY et al
95520251998Frequency and clinical significance of cytogenetic abnormalities in pediatric T-lineage acute lymphoblastic leukemia: a report from the Children's Cancer Group.Heerema NA et al
112417902001Analysis of secondary chromosomal alterations in 165 cases of follicular lymphoma with t(14;18).Horsman DE et al
172114332007Cytogenetic evolution patterns in CML post-SCT.Karrman K et al
151884562004Centrosome amplification and aneuploidy in bone marrow failure patients.Kearns WG et al
835223819938;21 translocation and multilineage involvement.Kwong YL et al
93750341997Hematological features and treatment outcome in acute myeloid leukemia with t(8;21).Ma SK et al
31642431988Translocation (8;21) and its variants in acute nonlymphocytic leukemia. The relative importance of chromosomes 8 and 21 to the genesis of the disease.Minamihisamatsu M et al
255633332015Clinicopathological analysis of near-tetraploidy/tetraploidy acute myeloid leukaemia.Pang CS et al
94913261998Pre-clinical evaluation of probes to detect t(8;21) AML minimal residual disease by fluorescence in situ hybridization.Paskulin GA et al
15715501992Isochromosomes in childhood acute lymphoblastic leukemia: a collaborative study of 83 cases.Pui CH et al
69508041982Diagnostic and prognostic significance of chromosome abnormalities in marrow and mitogen response of lymphocytes of acute nonlymphocytic leukemia.Shiraishi Y et al
31627011988Chromosome studies on 30 Chinese patients with acute nonlymphocytic leukemia in Taiwan.Tien HF et al
206981072010Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node.Trcić RL et al
93988631997Interphase detection of BCL6/IgH fusion gene in non-Hodgkin lymphoma by fluorescence in situ hybridization.Ueda Y et al
97124251998Analysis of hematologic diseases using conventional karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH).Wilkens L et al

Summary

Atlas Image
Figure 1. Partial karyotypes (G-banding) with i(X)(q10)

Citation

Tatiana Gindina

i(Xq10) in female patients

Atlas Genet Cytogenet Oncol Haematol. 2017-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1493/i(xq10)-in-female-patients

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