title: Primary cardiac alveolar soft part sarcoma. A report of the first observed case with molecular diagnostics corroboration.
abstract: A case of primary alveolar soft part sarcoma (ASPS) of the heart is reported in an 11-year-old female as 1 of 16 cases of ASPS presenting in the first 2 decades of life in our institutional 17-year review period. The classic alveolar or organoid pattern was inconspicuous as compared to a more diffuse or formless pattern consisting of a population of uniform round cells with abundant eosinophilic cytoplasm, but in addition there was a second, minor population of gigantiform tumor cells with a variety of unusual shapes. Scattered tumor cells contained dense eosinophilic condensations in the cytoplasm. Other unusual features for ASPS in our case included a lymphohistocytic reaction and zonal necrosis. Immunohistochemistry revealed nuclear reactivity for TFE3, and the ASPL-TFE3 fusion transcript was identified by reverse-transcriptase polymerase chain reaction. The only other examples of ASPS involving the heart were 3 cases in the literature of metastatic disease from tumors arising in the soft tissues. This initial case of primary cardiac ASPS joins the list of other types of sarcomas in children that have been reported as primary neoplasms of the heart.
authors: Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes-Jewish and St Louis Children's Hospitals, Washington University Medical Center, St Louis, MO, USA.
authors: Jean
authors: J
authors: Luo
authors: Steven
authors: S
authors: Melnick
authors: Anthony
authors: A
authors: Rossi
authors: Redmond P
authors: RP
authors: Burke
authors: John D
authors: JD
authors: Pfeifer
authors: Louis P
authors: LP
authors: Dehner
mesh_terms: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics* / Q000378:metabolism; D014408:Biomarkers, Tumor / Q000378:metabolism; D006348:Cardiac Surgical Procedures; D002648:Child; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D006325:Heart Atria / Q000000981:diagnostic imaging; D006338:Heart Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007150:Immunohistochemistry; D047908:Intracellular Signaling Peptides and Proteins; D025202:Molecular Diagnostic Techniques; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D012334:RNA, Neoplasm; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012509:Sarcoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D012983:Soft Tissue Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: C422743:ASPSCR1 protein, human; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D047908:Intracellular Signaling Peptides and Proteins; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; C069203:TFE3 protein, human