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i(X)(q10) in male patients

Written2017-02Tatiana Gindina
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.

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
 
  Partial karyotype (G-banding) with i(X)(q10)

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

 
  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

arrayMapMorph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9680/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapMorph ( 9690/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databasei(X)(q10) in male patients
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