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An active isodicentric x chromosome in a case of refractory anaemia with ring sideroblasts associated with marked thrombocytosis.

Morales Camacho RM, Sanchez J, Marcos Luque I, Bernal R, Falantes JF, Pérez-Simón JA - Case Rep Genet (2014)

Bottom Line: Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)].Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome.To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T.

View Article: PubMed Central - PubMed

Affiliation: Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.

ABSTRACT
Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T.

No MeSH data available.


Related in: MedlinePlus

(a) G-banded karyotype of the bone marrow cells showed a 46,X,idic(X)(q13)[4]/46,XX[16]. The arrow indicates the isodicentric X chromosome. (b) FISH analysis in metaphase cell with CEP X probe showed two centromeres on the idic(X), red signals. (c) Hybridisation on metaphase cell with WCP Xp (green signal) and WCP Xq probes (red signal) showed a normal X chromosome and an idic(X) with a red signal (Xq) between two green signals (Xp).
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fig1: (a) G-banded karyotype of the bone marrow cells showed a 46,X,idic(X)(q13)[4]/46,XX[16]. The arrow indicates the isodicentric X chromosome. (b) FISH analysis in metaphase cell with CEP X probe showed two centromeres on the idic(X), red signals. (c) Hybridisation on metaphase cell with WCP Xp (green signal) and WCP Xq probes (red signal) showed a normal X chromosome and an idic(X) with a red signal (Xq) between two green signals (Xp).

Mentions: We report a 76-year-old female presenting with RARS-T and idic(X)(q13) in bone marrow cells. She presented with anaemia (mean corpuscular volume, 103 fl; haemoglobin, 9.2 g/dL), leukocytes of 11.7 × 109/L, and a thrombocytosis of 709 × 109/L. The patient was diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30%–40%. A cytogenetic analysis of the bone marrow revealed two clones, one with an isodicentric X and another with a normal chromosomal complement: 46,X,idic(X)(q13)[4]/46,XX[16] (Figure 1(a)). HUMARA assay showed the idic(X)(q13) as the active X chromosome. In situ fluorescent hybridisation with a DXZ1 centromere probe (Vysis Downers Grove, IL, USA) (Figure 1(b)) and a whole chromosome painting (WCP) X chromosome probe (Vysis Downers Grove, IL, USA) (Figure 1(c)) showed two centromeres and the duplication of Xpter-q13. Cytogenetic analysis performed in a 72-hour lymphocyte culture obtained from whole blood stimulated with PHA was normal.


An active isodicentric x chromosome in a case of refractory anaemia with ring sideroblasts associated with marked thrombocytosis.

Morales Camacho RM, Sanchez J, Marcos Luque I, Bernal R, Falantes JF, Pérez-Simón JA - Case Rep Genet (2014)

(a) G-banded karyotype of the bone marrow cells showed a 46,X,idic(X)(q13)[4]/46,XX[16]. The arrow indicates the isodicentric X chromosome. (b) FISH analysis in metaphase cell with CEP X probe showed two centromeres on the idic(X), red signals. (c) Hybridisation on metaphase cell with WCP Xp (green signal) and WCP Xq probes (red signal) showed a normal X chromosome and an idic(X) with a red signal (Xq) between two green signals (Xp).
© Copyright Policy
Related In: Results  -  Collection

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Show All Figures
getmorefigures.php?uid=PMC3926399&req=5

fig1: (a) G-banded karyotype of the bone marrow cells showed a 46,X,idic(X)(q13)[4]/46,XX[16]. The arrow indicates the isodicentric X chromosome. (b) FISH analysis in metaphase cell with CEP X probe showed two centromeres on the idic(X), red signals. (c) Hybridisation on metaphase cell with WCP Xp (green signal) and WCP Xq probes (red signal) showed a normal X chromosome and an idic(X) with a red signal (Xq) between two green signals (Xp).
Mentions: We report a 76-year-old female presenting with RARS-T and idic(X)(q13) in bone marrow cells. She presented with anaemia (mean corpuscular volume, 103 fl; haemoglobin, 9.2 g/dL), leukocytes of 11.7 × 109/L, and a thrombocytosis of 709 × 109/L. The patient was diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30%–40%. A cytogenetic analysis of the bone marrow revealed two clones, one with an isodicentric X and another with a normal chromosomal complement: 46,X,idic(X)(q13)[4]/46,XX[16] (Figure 1(a)). HUMARA assay showed the idic(X)(q13) as the active X chromosome. In situ fluorescent hybridisation with a DXZ1 centromere probe (Vysis Downers Grove, IL, USA) (Figure 1(b)) and a whole chromosome painting (WCP) X chromosome probe (Vysis Downers Grove, IL, USA) (Figure 1(c)) showed two centromeres and the duplication of Xpter-q13. Cytogenetic analysis performed in a 72-hour lymphocyte culture obtained from whole blood stimulated with PHA was normal.

Bottom Line: Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)].Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome.To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T.

View Article: PubMed Central - PubMed

Affiliation: Department of Haematology, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío, CSIC, University of Seville, 41013 Seville, Spain.

ABSTRACT
Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T.

No MeSH data available.


Related in: MedlinePlus