Crystal-deficient alveolar soft-part sarcoma with cutaneous involvement: a case report.
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.
Kacerovska
Denisa
D
Sikl's Department of Pathology, Charles University Medical Faculty Hospital, Pilsen, Czech Republic.
Michal
Michal
M
Nemcova
Jana
J
Vanecek
Tomas
T
Kreuzberg
Boris
B
Mrazkova
Petra
P
Koudela
Karel
K
Kazakov
Dmitry V
DV
D000792:Angiography / Q000379:methods; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D003594:Cytoplasmic Granules / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D047908:Intracellular Signaling Peptides and Proteins; D007866:Leg; D008175:Lung Neoplasms / Q000556:secondary; D008297:Male; D008875:Middle Aged; D009364:Neoplasm Recurrence, Local; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D049268:Positron-Emission Tomography; D018234:Sarcoma, Alveolar Soft Part / Q000098:blood supply / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D017422:Sequence Analysis, DNA; D012867:Skin / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000098:blood supply / Q000235:genetics / Q000473:pathology* / Q000601:surgery; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D047908:Intracellular Signaling Peptides and Proteins; D015514:Oncogene Proteins, Fusion; C069203:TFE3 protein, human