Rhabdomyosarcoma laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

An elevated concentration of skeletal muscle protein myo D1 is diagnostic of rhabdomyosarcoma.

Laboratory Findings

When rhabdomyosarcoma is suspected, tests will be run for blood, muscle, and marrow.

Immunohistochemical marker

  • Diagnosis of rhabdomyosarcoma depends on recognition of differentiation toward skeletal muscle cells.
  • The protein myo D1 is a immature protein normally found in developing skeletal muscle cells which disappears after the muscle matures and becomes innervated by a nerve.
  • Thus, myo D1 is not found in normal skeletal muscle and serves as a useful immunohistochemical marker of rhabdomyosarcoma.

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