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Elderly Female with Pancytopenia

Posted on March 30 2017

Elderly Female with Pancytopenia

h/o lung CA s/p taxotere/carboplatin in 2012-13 

WBC  2900, HGB 10.1 g/dL, hct 30.6 %,  MCV 97.0 fL;  plt 56 k; absolute neutrophils 1340, absolute lymphocytes 1200, absolute monocytes 300

Bone marrow submitted

Bone Marrow Aspirate

Atypical Megakaryocyte - small and hypolobated

Flow Cytometry

Minor blast gate identified on left, hemodilution effect shown on right

Aberrant expression of CD4 on myeloblasts

bone marrow core biopsy

Atypical Megakaryocytes - small and hypolobated

CD34 IHC

Less than 5% blasts on CD34 staining

Iron stain

Occasional ringed sideroblasts identified

Prelim diagnosis (before FISH/Cyto)

Cellular marrow with multilineage atypia and <5% blasts (see comment )

- flow cytometry reveals 2.1% atypical myeloblasts (atypical dim partial CD7 and CD4 expression)
 - increased storage iron present with occasional ringed sideroblasts identified
—-Await final SUMMARY report integrating pending FISH / cytogenetic testing

FISH

Loss of 5q, 7q, and 20q by FISH

cytogenetics

Complex karyotype including 5q deletion, 7q deletion and monosomy 20, 21, 16, and 18

Diagnosis

Myelodysplastic syndrome (MDS) with complex karyotype and <5% blasts

-  flow cytometry reveals 2.1% atypical myeloblasts (atypical dim partial CD7 and CD4 expression)
  -  ABNORMAL FEMALE KARYOTYPE:  43,XX,del(5)(q15q33),del(7)(q22q34),add(15) (p10),-16,-18,-20,-21,+mar[6]/46,XX[14]
-  FISH POSITIVE for loss of 5q in 30%, loss of 7q in 22%, and loss of 20q in 29% of cells
-  increased storage iron present with occasional ringed sideroblasts identified (<15% of erythroid elements)


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