Primary alveolar soft part sarcoma of uterine corpus: a case report with immunohistochemical, ultrastructural study and review of literature

Abstract

BackgroundAlveolar soft part sarcoma (ASPS) is a rare mesenchymal malignancy. ASPS usually occurs most commonly in the deep soft tissues of the thigh and buttock or the head and neck regions.ASPS that originate from the uterine corpus are even more rare, with only 10 previous cases reported in the English literature.Case presentationIn our case, the alveolar features were completely lost and the tumour shows a solid, non-alveolar pattern and the nuclei have marked variation in nuclear size, and multinucleation. The correct pathological diagnosis has been made by immuno- histochemical and ultrastructural features, which rvealed overexpression of TFE3 and peculiar cytoplasmic crystalline inclusions.In this paper, an additional case of primary ASPS of uterine corpus is reported with immunohistochemical, ultrastructural study and review of literature in the effort to delineate its clinical and pathological features. In this unusual site, the diagnosis can be problematic because ASPS can mimic other primary or metastatic uterine neoplasms.ConclusionsThus, in this unusual presentation an essential diagnostic marker is the nuclear over-expression of TFE3 as well as ultrastructural study, which reveals the presence of peculiar cytoplasmic crystalline inclusions.

Alveolar soft part sarcoma occurring in the penis of a 3-year-old boy

“…Histologically, ASPS is characterized by neoplastic cells containing eosinophilic granular or vacuolated cytoplasm, showing in an organoid pattern and most are associated with abundant sinusoidal vessels. [ 5 ] Molecular cytogenetic analysis can help the diagnosis of ASPS, because an ASPL-TFE3 (novel gene-transcription factor) translocation, which caused by a unique chromosomal rearrangement der(17)t(X;17)(p11;q25), has been identified. [ 5 , 9 ] As demonstrated in this case, immunohistochemical staining can identify the TFE3 target and confirm the diagnosis of ASPS.…”

“…[ 5 ] Molecular cytogenetic analysis can help the diagnosis of ASPS, because an ASPL-TFE3 (novel gene-transcription factor) translocation, which caused by a unique chromosomal rearrangement der(17)t(X;17)(p11;q25), has been identified. [ 5 , 9 ] As demonstrated in this case, immunohistochemical staining can identify the TFE3 target and confirm the diagnosis of ASPS. [ 4 ]…”

“…[ 2 , 3 ] Morphologically, its tumor cells are characterized by being arranged in an alveolar pattern; histochemical staining is useful for the diagnosis. [ 4 , 5 ] About one-third of ASPS occurs in children and adolescents. [ 6 ] It mostly occurs in the extremities, especially upper and lower extremities.…”

Sonographic imaging features of alveolar soft part sarcoma: Case series and literature review

“…Two additional cases of sonographic details were not available. [17,18] Of the 14 patients, including our 3 case reports, ten were female and 4 male, and ages ranged from 3 to 71 years (median 24 years). Patients with ASPS generally range from 20 to 30 years, and women are more likely to develop tumors than men.…”