Ann Lab Med.  2021 Mar;41(2):240-242. 10.3343/alm.2021.41.2.240.

der(1)t(1;1)(p36;q10) as a Rare Variant of 1q Gain in Fanconi Anemia-Associated Myelodysplastic Syndrome

Affiliations
  • 1Molecular Pathology and Cytogenetics Section, Pathology Department, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran


Figure

  • Fig. 1 Cytogenetic analysis. (A) Chromosomal breakage analysis revealed increased chromosomal breaks and triradial formation (mitomycin C stress analysis results=0.96 breaks/cell). (B) Karyotyping of synchronized bone marrow culture using the Giemsa trypsin banding method showed 45,XY,der(1)t(1;1)(p36;q10),-7[18]/46XY[2].

  • Fig. 2 Histological analysis. (A) The bone marrow biopsy demonstrated a hypercellular marrow with an increased number of dysplastic micromegakaryocytes (hematoxylin and eosin, ×400). (B) The reticulin stain revealed increased marrow fibrosis (×400). (C) Immunohistochemistry for factor VIII-related antigen demonstrated increased unilobular and hypolobular megakaryocytes (counterstained with hematoxylin and eosin, ×400). (D) Immunohistochemistry for CD34 stained 4–5% of the cells (counterstained with hematoxylin and eosin, ×400).


Reference

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