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Case 291 - Discussion

Hematopathology Case


  • Cytogenetic studies:

    • 46,XX,add(5)(q11.2),del(11)(q22q25)[11]/46,XX[9]

  • FISH studies:

    • Positive for loss of 5q31 sequence in 24.5% of 200 cells

    • Positive for loss of 11q23 sequence in 23.0% of 200 cells

    • Normal chromosomal 7, 8 and 20q12 sequences

    • Negative for MLL rearrangement

  • This case has the typical clinical presentations and morphologic features for classic "MDS with 5q deletion"; however, an additional genetic abnormality, del(11)(q22q25), is also present;

  • It may be classified as "MDS with 5q deletion"; the new WHO Classification has proposed to accept one additional cytogenetic alteration in "MDS with 5q deletion", except 7q deletion.


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