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Erythroid dysplasia 2

Erythroid dysplasia 2
#00065278
Author: Imad Karam, MD; Carol Luhrs, MD; Ronak Patel, MD; Elvira Neculiseanu,MD; Guanghong Liao,MD
Category: Red Cell: Disorders of Iron Metabolism and Heme Synthesis > Sideroblastic anemias > Acquired/Reversible Sideroblastic Anemias > Myelodysplastic Syndromes
Published Date: 09/13/2024

Bone marrow aspirate 40x5 H&E staining Erythroid dysplasia with nuclear budding

TP53 C238Y inactivating mutation

Chromosome analysis revealed an abnormal karyotype in 80% G-banded metaphase cells compatible with clonal neoplasm. There is evidence of balanced reciprocal translocation t(2;3)(p23;p25); loss of chromosome 4,5,14,19 and 21; unbalanced rearrangements of 8p; 17q;18q;21p and 22p; a der(7;8)(q10;q10); net loss of 7p; partial deletion of 17p with potentially a resultant loss of TP-53;.

Nomenclature: 44~46,XY,t(2,3)(p23;p25),-4,-5,der(7;8)(q10;q10), der(7;21)(q10;q10) add(8)(p21),add(8)(p23),-14, add(17)(q21),del(17)(p11.2),add(18)(q21),-19,-21,add(21)(p11.2),add(22)(p11.2)add(21)(p11.2),+1-2r,+1~4mar[cp16]/

 
     
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