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(Paper co-edited with the European LeukemiaNet)
Translocation t(X;20)(q13;q13.3) as a secondary chromosome abnormality in a patient with 5q-: a case report
Written2013-01Carlos Augusto Figueiredo Correia, Juliana Lino Rodrigues de Matos, Cristina Alonso Ratis, Silvia Helena A Figueira, Renata Kiyomi Kishimoto, Elvira D Rodrigues Pereira Velloso
Laboratorio de Tecnicas Especiais- Citogenetica do Hospital Israelita Albert Einstein, Sao Paulo, Brazil (CAFC, CAR, SHAF, RKK, EDRPV); Hospital das Clinicas da Universidade Federal de Minas Gerais, Minas Gerais, Brazil (CAFC); Hemomed, Sao Paulo, Brazil (JLRdM)
Age and sex : 76 year(s) old female patient.
Previous History : preleukemia (Low risk myelodysplastic syndrome (refractory anemia) diagnosed 32 months before (December, 2009).)
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
WBC : 2.7 x 109/L ; Hb : 8.5 g/dL ; platelets : 146 x 109/L;
Bone marrow : 5 Global normocellularity, with erythroid and megakaryocytic hyperplasia and megakaryocytic dysplasia (no-lobated megakaryocytes suggestive of 5q- Syndrome), less than 5% of myeloblasts and 23% of ring sideroblasts.
Cyto pathology classification
Cytology : Myelodysplastic Syndrome - Refractory anemia with ring sideroblasts (FAB classification).
Precise diagnosis : Myelodysplastic Syndrome - Refractory citopenia with multilineage dysplasia and ringed sideroblasts (WHO classification).
Date of diagnosis: 08-2012
Treatment : Erythropoietin
Complete remission : None
Treatment related death : -
Relapse : -
Status : Alive 09-2012
Survival : 1 month(s)
Sample : Bone marrow ; culture time : 24 h, and 48 hours without stimulating agents ; banding : GTG
Results : 46,XX,del(5)(q13q31)[1]/46,X,t(X;20)(q13;q13.3),del(5(q13q31))[11]/46,XX[8]
Karyotype at relapse : not done
Partial G-banded karyotypes showing the del(5)(q13q31) and the t(X;20)(q13;q13.3)
The band Xq13 is frequently involved in rearrangements seen in hematological malignancy. The structural rearrangement idic(X)(q13) is associate with the myelodysplastic syndrome with ringed sideroblasts and this region is difficult for mapping because is rich in complex repeats with subregional inversions and high concentration of LINE repeats (boosters of X-inactivation). The chromosome 20q interstitial deletions are well established nonrandom abnormalities in myeloid disorders, particularly in polycythemia vera and myelodysplasia. Very few cases of translocations involving chromosome 20 have been reported in hematological malignancy. The band 20q13 is rich in cancer genes and translocation involving this region has been reported in cases of acute myeloid leukemia. One study shows that breakpoints of X chromosomes associated with myelodysplasia were located in a region of 450 kb next to the gene XIST (Xq13). Another study demonstrated that a critical event in myelodysplasia is loss of tumor suppressor genes present on the long arm of chromosome 20. This suppression can occur when a potential cryptic deletion is associated with a translocation. This phenomenon generates a second mechanism causing inactivation of the X chromosome and derivative 20 resulting loss of function of tumor suppressor genes. Seven cases of t(X;20)(q13;q13) were described in literature; all affecting women over the age of 57 with myeloid disorders. We report the detection, by conventional cytogenetic methods, the t(X;20)(q13;q13.3) in one female patient with myelodysplastic syndrome subtype Refractory citopenia with multilineage dysplasia and ringed sideroblasts (classification WHO). Although this translocation was described as a primary clonal chromosome abnormality, in this case the t(X;20) seems to be a secondary chromosome abnormality following a deletion 5q.
Internal links
Atlas Cardt(X;20)(q13;q13.3)
Case ReportTranslocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 1
Case ReportTranslocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 2
Case ReportTranslocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 3
Case ReportTranslocation (X;20)(q13;q13.3): a nonrandom abnormality in four patients with myeloid disorders: case 4
Three patients with structurally abnormal X chromosomes, each with Xq13 breakpoints and a history of idiopathic acquired sideroblastic anemia.
Dewald GW, Pierre RV, Phyliky RL.
Blood. 1982 Jan;59(1):100-5.
PMID 7053756
Twenty-six patients with hematologic disorders and X chromosome abnormalities. Frequent idic(X)(q13) chromosomes and Xq13 anomalies associated with pathologic ringed sideroblasts.
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