What is the role of biopsy in the workup of Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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  • A predilection for developing bone marrow failure and leukemic transformation is associated with Shwachman-Diamond syndrome.

    • Isochromosome arm 7q may be a specific marker of myeloid malignant transformation.

    • Bone marrow aspiration and biopsy are indicated at the time of diagnosis and every 1-3 years or as clinically indicated. [79, 41, 66]

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