i(X)(q10) in male patients

Abstract

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

Keywords

Chromosome X; Acute lymphoblastic leukemia; Diffuse large B-cell lymphoma; Follicular Lymphoma.

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Identity

ICD-Topo	C420,C421,C424
ICD-Morpho	9811/3 B lymphoblastic leukaemia/lymphoma, NOS
ICD-Morpho	9680/3 Diffuse large B-cell lymphoma (DLBCL), NOS; Primary DLBCL of the CNS; Primary cutaneous DLBCL, leg type; EBV positive DLBCL of the elderly; DLBCL associated with chronic inflammation; B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma
ICD-Morpho	9690/3 Follicular lymphoma; Paediatric follicular lymphoma
Atlas_Id	1492
	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.

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). Pts Age, gender Disease Karyotype Author 1 51, M B-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 ?, M DLBCL 47-48,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 3 60, M DLBCL 67<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 4 75, M FL 47,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 ?, M FL 48,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

	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

Fusion Protein

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.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section.

Bibliography

Inverted duplication dup(1)(q32q21) aas sole aberration in lymphoid and myeloid malignancies.

Bacher U, Schnittger S, Gruneisen A, et al.

Cancer Genet Cytogenet. 2009;188(2):108-111.

PMID 19100515

Rearrangements of chromosome band 1p36 in non-Hodgkin's lymphoma.

Dave BJ, Hess MM, Pickering DL, et al.

Clin Cancer Res. 1999; 5(6):1401-1409.

PMID 10389925

Immunological and molecular studies in a case of follicular lymphoma with an extra chromosome 12 and t(2;8) translocation.

Donti E, Falini B, Giuseppe Pelicci P., et al.

Leukemia 1988;2(1):41-44.

PMID 3339903

Molecular cytogenetic analysis of genomic instability at the 1q21-22 chromosomal site in B-cell non-Hodgkin lymphoma.

Itoyama T, Nanjungud G, Chen W, et al.et al.

Genes Chromosomes Cancer. 2002;35(4):318-328.

PMID 12378526

Citation

This paper should be referenced as such :

Gindina T

i(X)(q10) in male patients;

Atlas Genet Cytogenet Oncol Haematol. in press

On line version : http://AtlasGeneticsOncology.org/Anomalies/iXq10MaleID1492.html

External links

arrayMap (UZH-SIB Zurich)	Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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arrayMap (UZH-SIB Zurich)	Morph ( 9690/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]

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