Key result
An unusual case of alveolar soft-part sarcoma with cutaneous involvement lacked typical large crystals but exhibited striking round granules and an ASPL-TFE3 type 2 fusion transcript.
Case Report (n=1)
This report documents a rare case of crystal-deficient alveolar soft-part sarcoma with cutaneous involvement, expanding the known morphological spectrum of the disease.
May broaden cutaneous sarcoma differentials; extends morphological spectrum of alveolar soft-part sarcoma but requires validation.
Alveolar soft-part sarcoma (ASPS) is a rare distinctive sarcoma, in most cases involving deep soft tissues of the extremities. It is associated with a specific unbalanced translocation, der(17)t(X;17)(p11;q25) that results in the formation of an ASPL-TFE3 fusion gene. Microscopically, it is typified by an alveolar growth of large cells containing typical periodic acid-Schiff-positive rod-shaped crystals, often serving as a diagnostic clue. Other distinctive features include nuclear immunoreactivity for transcription factor 3 (TFE3) protein and a typical ultrastructural finding of large crystals with a rectangular or rhomboid shape. The authors present an unusual case of ASPS with cutaneous involvement, which did not exhibit typical large crystals; there were striking round granules. Molecular genetic study revealed fusion transcript ASPL-TFE3, type 2. To the best of our knowledge, cutaneous involvement of a crystal-deficient ASPS has not been reported.
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Kacerovská et al. (2009) conducted a case report in Alveolar soft-part sarcoma (ASPS) with cutaneous involvement (n=1). An unusual case of alveolar soft-part sarcoma with cutaneous involvement lacked typical large crystals but exhibited striking round granules and an ASPL-TFE3 type 2 fusion transcript.
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