i(X)(q10) in male 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 male patients.

Clinics and Pathology

Disease

Extremely rare i(X)(q10) occurs in male patients, only five cases have been reported in lymphoid malignancies, including acute lymphoblastic leukemia (ALL) (Bacher et al, 2009), diffuse large B-cell lymphoma (Itoyama et al, 2002, Gindina T., table 1, case #3) and follicular lymphoma (Dave t al, 1999; Donti et al., 1988).

Epidemiology

Table 1. Reported cases with i(X)(q10).
PtsAge, genderDiseaseKaryotypeAuthor
151, MB-cell precursor ALL (relapse after CT)46,Y,i(X)(q10),der(1)dup(1)(q32q21)t(1;17)(q42;q23),ins(7;8)(p21;p21;23),der(17)t(1;17)(q42 ;q23)[6]/46,XY[17]Bacher et al, 2009
2?, MDLBCL47-48,i(X)(q10),-Y,inv(1)(p32q21),del(2)(q13),hsr(3)(q27),add(4)(q35),del(4)(q31),-6,+7,der(11)t(5;11)(q13;q23),+13, t(14;18)(q32;q21),-15,-16,-17,+mar Itoyama et al, 2002
360, MDLBCL67<3n>,Y,add(X)(p22),i(X)(q10),-2,del(2)(p21),-4,+7,+7,dic(7;7)(p22;p22),der(8)del(8)(p12)t(8;11)(q24;q13),+9,i(9)(p10), +12,der(12)t(3;12)(q13;p13),add(12)(p13),-13,+14,i(14)(q10),-15,-15,i(15)(q10),-16,add(17)(p11),add(18)(q23),-19, add(20)(q13),+21,i(21)(q10),-22,+mar [20] (Fig 1 and 2.)Gindina T, own case
475, MFL47,XY,+i(X)(q10),t(1;11)(p36;q21),del(4)(q32),del(9)(q21),t(14;18)(q32;q21)[8]/46,XY[2]Dave et al, 1999
5?, MFL48,XY,+i(X)(q10),+i(X)(p10),add(1)(q?),+12,add(14)(q?)/48,Y,i(X)(q10),+i(X)(p10),add(1),t(2;8)(p12;q24),+12,add(14)Donti et al, 1988

ALL: acute lymphoblastic leukemia; DLBCL: diffuse large B-cell lymphoma; FL: follicular lymphoma

Cytogenetics

Atlas Image
Complex karyotype with extra i(X)(q10) in a patient with DLBCL (table 1, #3).

Additional anomalies

Additional chromosome anomalies were observed in all five patients. Extra i(X)(q10) was present in 3 patients (Donti et al., 1988; Dave et al, 1999; Gindina et al, case #3). Associated in combination with other isochromosomes in 2 patients (Donti et al, 1988; Gindina, case #3). In all cases, i(X)(q10) is part of a complex karyotype. t(14;18)(q32;q21) was found in 2 cases: 1 FL case and 1 DLBCL (Dave et al, 1999; Itoyama et al, 2002).

Result of the Chromosomal Anomaly

Oncogenesis

The major consequence of this abnormality is loss of several genes on Xp and gain of several genes on Xq, that leads to genetic imbalance.

Bibliography

Pubmed IDLast YearTitleAuthors
191005152009Inverted duplication dup(1)(q32q21) as sole aberration in lymphoid and myeloid malignancies.Bacher U et al
103899251999Rearrangements of chromosome band 1p36 in non-Hodgkin's lymphoma.Dave BJ et al
33399031988Immunological and molecular studies in a case of follicular lymphoma with an extra chromosome 12 and t(2;8) translocation.Donti E et al
123785262002Molecular cytogenetic analysis of genomic instability at the 1q12-22 chromosomal site in B-cell non-Hodgkin lymphoma.Itoyama T et al

Summary

Atlas Image
i(X)(q10)  Partial karyotypes (G-banding) with i(X)(q10). Hybridization with CEP X SpectrumOrange probe specific for the alpha satellite (centromeric) chromosome X region, (Abbott Molecular, US) showing the signal on normal X and on i(X)(q10) chromosomes- Courtesy Adriana Zamecnikova.

Citation

Tatiana Gindina

i(X)(q10) in male patients

Atlas Genet Cytogenet Oncol Haematol. 2017-02-01

Online version: http://atlasgeneticsoncology.org/haematological/1492/i(x)(q10)-in-male-patients

External Links