Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

Mello, Celso Abdon Lopes de; Campos, Fernando Augusto Batista; Santos, Tiago G.; Silva, Maria Letícia Gobo; Torrezan, Giovana Tardin; Costa, Felipe D’Almeida; Formiga, Maria Nirvana; Nascimento, Antonio G.; Silva, Cássia; Curado, María Paula; Nakagawa, Suely Akiko; Lopes, Ademar; Aguiar, Samuel

doi:10.3390/cancers13030498

Cited by 33 publications

(46 citation statements)

References 134 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…DSRCT exhibits polyphenotypic differentiation, but majority of cases show both keratins and desmin positivity [ 49 , 53 , 54 ]. Typical clinical presentation in addition to a unique translocation t(11;22)(p13;q12) with EWSRI-WT1 gene fusion [ 48 , 49 ] helps to distinguish DSRCT from other small blue round cell tumors and small cell carcinomas.…”

Section: Discussionmentioning

confidence: 99%

The Small Round Cell Sarcomas Complexities and Desmoplastic Presentation

Domanski¹

2022

Acta Cytologica

View full text Add to dashboard Cite

Background: Small round cell sarcomas (SRCSs) account for most solid malignancies in the pediatric age group and are a part of group of malignant tumors characterized by heterogenous clinical presentation and overlapping microscopic features of small, round, primitive cells. In addition to the recently established certain genetically defined subset of undifferentiated round cell sarcomas of soft tissue and bone, this group of sarcomas include desmoplastic small round cell tumor, poorly differentiated synovial sarcoma, alveolar rhabdomyosarcoma, mesenchymal chondrosarcoma, and small cell osteosarcoma. Although, those entities share clinical and cytomorphologic features and cannot be unequivocally classified based on clinical presentation and morphology alone. Most of SRCSs characterizes of particular patterns of protein expression or genetic changes and ancillary tests remain necessary to confirm or rule out a specific diagnosis. Subtle but occasionally distinctive cytologic features narrows the number of differential diagnoses and helps to select appropriate ancillary tests necessary for the final diagnosis. Thus, when adequate fine needle aspiration (FNA) biopsy specimen is combined with ancillary tests, a specific histologic diagnosis can be made in almost all cases. However, due to complex cytologic features of SRCS as well as various quality and diversity of FNA smears, there are cases in that cytologic features which do not entirely match the known diagnostic criteria. Summary: The aim of this review was to summarize cytomorphologic criteria and to present rare and divergent cytological features of SRCSs. Careful assessment of clinical presentation, cytological features, immunohistochemical patterns, and molecular alternations is necessary for an accurate diagnosis. Knowing of rare and divergent microscopic findings that does not fit with the known cytological criteria will help to avoid misdiagnosis. Key Messages: The role of FNA biopsies diagnosing soft tissue and bone tumors has been increasing because of the ability of ancillary tests to assist in the diagnosis of specific tumors. SRCSs may be diagnosed accurately in cytology specimens. Access to clinical and radiographic presentation, utility of ancillary tests, understanding complexity of cytological features, and awareness of the rare cytologic findings that differ from that of the established diagnostic criteria are essential to make correct diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

The Small Round Cell Sarcomas Complexities and Desmoplastic Presentation

Domanski¹

2022

Acta Cytologica

View full text Add to dashboard Cite

show abstract

“…Effective cytoreduction combined with comprehensive therapies, as the best treatment strategy presented in most studies, may improve patient survival rate [ 14 , 15 , 28 , 33 , 34 , 57 ]. With the in-depth analysis of molecular genetics of DSRCT, targeted therapy, immunotherapy, and other methods have been gradually applied to the treatment of DSRCT in recent years [ 58 , 59 ].…”

Section: Discussionmentioning

confidence: 99%

Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

Zhou

Luo

et al. 2022

Diagn Pathol

View full text Add to dashboard Cite

Background Desmoplastic small round cell tumor (DSRCT) is a sporadic, highly malignant tumor with a poor prognosis. The abdomen and pelvis have been reported as the primary localization sites. However, to the best of our knowledge, there are few reports on primary DSRCT in the submandibular gland. Case presentation We report a case of a 26-year-old Chinese man with a mass in the right submandibular gland. Imaging studies showed a hypoechoic mass in the right submandibular region. Intraoperative pathology revealed that the tumor tissue was composed of small round tumor cells and a dense desmoplastic stroma. On immunostaining, the tumor cells showed markers of epithelial, mesenchymal, myogenic, and neural differentiation. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization. Based on the overall morphological features and immunohistochemical findings, a final diagnosis of DSRCT was made. The patient was treated with comprehensive anti-tumor therapy mainly based on radiotherapy and chemotherapy. Conclusions DSRCT is an uncommon malignant neoplasm with rare submandibular gland involvement. In this report, we have described a case of DSRCT in the submandibular gland and reviewed the literature on DSRCT over the past 5 years. Considering the importance of differential diagnosis between DSRCT, especially with rare extra-peritoneal involvement, and small round blue cell tumors, a full recognition of the clinicopathological features will help to better diagnose this neoplasm.

show abstract

“…Correct identification of patients with DSRCT is critical to facilitate clinical trial enrollment and the study of new therapeutic protocols. 22…”

Section: Discussionmentioning

confidence: 99%

“…21 This chimeric protein product acts as a transcriptional activator factor, upregulating expression of PDGFRα , FGFR4 , VEGFR2 , and IGF2 , activating MYC , PAX2 , TALLA1 and NTRK3 , and blocking p53. 22…”

Section: Introductionmentioning

confidence: 99%

Highlighting the Diversity of Desmoplastic Small Round Cell Tumor: A Case Series

et al. 2022

View full text Add to dashboard Cite

Desmoplastic small round cell tumor (DSRCT) is a rare malignant tumor that occurs mainly in the retroperitoneum of children and young adults. In its prototypical form, DSCRT displays characteristic morphology with nested primitive small round cells in a desmoplastic stroma and a distinctive immunophenotype with polyphenotypic differentiation. However, DSCRT can also exhibit a broader clinical, histologic and immunohistochemical spectrum and, therefore, cause diagnostic difficulties. Given that DSCRT is an aggressive and nearly universally fatal disease, making the correct diagnosis is critically important. Herein, we report three patients with DSRCT and unusual clinical, morphologic or immunohistochemical characteristics, in order to highlight its remarkable diversity and increase awareness of this unusual, distinctive neoplasm.

show abstract

Desmoplastic Small Round Cell Tumor: A Review of Main Molecular Abnormalities and Emerging Therapy

Cited by 33 publications

References 134 publications

The Small Round Cell Sarcomas Complexities and Desmoplastic Presentation

The Small Round Cell Sarcomas Complexities and Desmoplastic Presentation

Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

Highlighting the Diversity of Desmoplastic Small Round Cell Tumor: A Case Series

Contact Info

Product

Resources

About