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International Journal of Surgical... Aug 2023Desmoplastic small round cell tumor (DSRCT) is a rare aggressive malignancy typically originating from the abdominal or pelvic cavity. DSRCT presenting as a primary head... (Review)
Review
Desmoplastic small round cell tumor (DSRCT) is a rare aggressive malignancy typically originating from the abdominal or pelvic cavity. DSRCT presenting as a primary head and neck tumor has rarely been described in the literature. We present three cases of DSRCT arising in the head and neck to further characterize its clinicopathological features. All three patients were male and aged 36, 30 and 17 years. The involved sites included the orbit (1 case) and submandibular gland (2 cases). The tumors ranged in size from 2.4 to 3.5 cm (mean, 2.1 cm). Histologically, all tumors showed irregular-shaped, variable-sized nests of small round cells deposited in an abundant desmoplastic stroma. Tumor cells contained scant amounts of eosinophilic cytoplasm and small hyperchromatic nuclei with inconspicuous nucleoli. Immunohistochemically, the tumors were positive for keratin (AE1/AE3) (3/3), desmin (3/3), vimentin (2/2), NSE (1/1) and EMA (1/1). Fluorescence in situ hybridization (FISH) analysis demonstrated the presence of and rearrangements in all three cases. All patients received surgery and adjuvant chemotherapy and/or radiotherapy. There was no evidence of recurrence and metastasis in two patients, and the third suffered lung metastasis. DSRCT arising in the head and neck represents an extremely rare condition. It is easily mistaken as poorly differentiated carcinoma due to similar morphology and expression of epithelial markers. Immunohistochemistry assay in conjunction with molecular detection of fusion will be helpful for arriving at an accurate diagnosis to avoid misdiagnosis and inappropriate treatment.
Topics: Male; Humans; Female; Desmoplastic Small Round Cell Tumor; In Situ Hybridization, Fluorescence; Head; Neck; Immunohistochemistry
PubMed: 36172631
DOI: 10.1177/10668969221117989 -
Revue de Stomatologie Et de Chirurgie... Dec 2009Desmoplastic fibroma is a rare benign intraosseous neoplasms. They can affect the jaw. Posterior mandibular bone involvement is the most frequent localization. They are... (Review)
Review
Desmoplastic fibroma is a rare benign intraosseous neoplasms. They can affect the jaw. Posterior mandibular bone involvement is the most frequent localization. They are locally aggressive and recurrence is frequent. Radioclinical signs are not specific and the histological diagnosis may be difficult. Extended surgical removal is the recommended treatment.
Topics: Curettage; Diagnosis, Differential; Fibroma, Desmoplastic; Humans; Jaw Neoplasms; Neoplasm Recurrence, Local
PubMed: 19828163
DOI: 10.1016/j.stomax.2009.07.007 -
Journal of Pediatric Hematology/oncology Mar 2022Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignancy commonly involving the abdomen and/or pelvic peritoneum. Despite aggressive therapy, the... (Review)
Review
BACKGROUND
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive malignancy commonly involving the abdomen and/or pelvic peritoneum. Despite aggressive therapy, the prognosis remains poor. Central nervous system relapse is rare in abdominal/pelvic primary DSRCT.
OBSERVATION
We report a case of a 10-year-old female with a large pelvic DSRCT and involvement of the rectosigmoid colon and liver. Following treatment with chemotherapy, and cytoreductive surgery with hyperthermic intraperitoneal chemotherapy an initial response was noted. With progressive lower limb weakness, recurrence with perineural invasion in the lumbosacral nerve root involving the conus was noted 2.5 years from diagnosis. Cerebrospinal fluid showed tumor cells with a molecular confirmation.
CONCLUSIONS
Perineural invasion and ascending paralysis secondary to primary abdominal DSRCT has not been previously reported to our knowledge. We recommend a high index of suspicion for early and accurate diagnosis of this rare presentation.
Topics: Child; Cytoreduction Surgical Procedures; Desmoplastic Small Round Cell Tumor; Female; Humans; Neoplasm Recurrence, Local; Prognosis
PubMed: 33710117
DOI: 10.1097/MPH.0000000000002138 -
Pathology Aug 2013Desmoplastic melanoma is an uncommon variant of melanoma which presents significant challenges to the clinician and histopathologist. In particular, many cases show a... (Review)
Review
Desmoplastic melanoma is an uncommon variant of melanoma which presents significant challenges to the clinician and histopathologist. In particular, many cases show a bland 'fibroblastic' appearance, mimicking scar and a range of other benign proliferations. This diagnosis can be particularly problematic in small biopsy specimens, a difficulty exacerbated by an immunoprofile which is typically negative for a number of conventional melanocytic markers. The clinical and histological features of desmoplastic melanoma are reviewed, as are the differential diagnoses and some newer techniques which may contribute to assessment of these lesions. In recent years it has become clear that subclassification of desmoplastic melanoma into pure and mixed variants has clinical significance and it is suggested that this classification be employed in routine practice.
Topics: Biomarkers, Tumor; Biopsy; Diagnosis, Differential; Humans; Melanoma; Prevalence; Skin; Skin Neoplasms
PubMed: 23811805
DOI: 10.1097/PAT.0b013e3283631c96 -
Current Oncology (Toronto, Ont.) Mar 2023Desmoplastic small round cell tumor is a very rare and highly aggressive soft tissue sarcoma, usually presenting with multiple intra-abdominal tumors in young males.... (Review)
Review
Desmoplastic small round cell tumor is a very rare and highly aggressive soft tissue sarcoma, usually presenting with multiple intra-abdominal tumors in young males. Patients present with advanced disease and the overall survival is dismal. Multiple studies report relatively favorable outcomes with multimodal treatment consisting of chemotherapy, surgery and radiotherapy. If resection is feasible, complete cytoreductive surgery is the cornerstone of surgical treatment. The benefit of hyperthermic intraperitoneal chemotherapy in addition to cytoreductive surgery is unclear, and few studies have evaluated this option. We sought to identify the role of hyperthermic intraperitoneal chemotherapy in patients with intra-abdominal desmoplastic small round cell tumor. Our review of the available literature revealed no clear survival benefit in performing hyperthermic intraperitoneal chemotherapy after cytoreductive surgery.
Topics: Male; Humans; Hyperthermic Intraperitoneal Chemotherapy; Desmoplastic Small Round Cell Tumor; Peritoneal Neoplasms; Combined Modality Therapy; Sarcoma
PubMed: 37185412
DOI: 10.3390/curroncol30040299 -
Thoracic Cancer Nov 2021Desmoplastic fibroblastoma is an extremely rare benign soft tissue tumor and desmoplastic fibroblastoma originating from the diaphragm has not been documented...
Desmoplastic fibroblastoma is an extremely rare benign soft tissue tumor and desmoplastic fibroblastoma originating from the diaphragm has not been documented previously. In our case, we report the first primary diaphragm desmoplastic fibroblastoma.
Topics: Diagnosis, Differential; Diaphragm; Female; Fibroma, Desmoplastic; Humans; Middle Aged; Soft Tissue Neoplasms; Tomography, X-Ray Computed
PubMed: 34581000
DOI: 10.1111/1759-7714.14168 -
Seminars in Pediatric Surgery Oct 2016Desmoplastic small round cell tumor (DSRCT) is a soft tissue sarcoma of mesenchymal cell origin that typically presents with multiple intra-abdominal tumors and exhibits... (Review)
Review
Desmoplastic small round cell tumor (DSRCT) is a soft tissue sarcoma of mesenchymal cell origin that typically presents with multiple intra-abdominal tumors and exhibits a multi-phenotypic pattern of immunohistochemical staining. The specific organ or tissue type of origin has yet to be identified. DSRCT rarely arises as a singular tumor in the abdomen; in most cases, there are dozens to hundreds of abdominal peritoneal tumors that are detected on diagnosis. One very large dominant mass is usually present in the omentum, with an additional one or two large conglomerates of tumors in the pelvis and right peritoneum, respectively. Despite an often overwhelmingly large number of abdominal tumors, symptoms of bowel obstruction are rare. Ascites may be present. In late stages, pleural effusions, pleural implants, mediastinal adenopathy, supraclavicular adenopathy, or bone metastasis may be present. With this challenging disease, multidisciplinary therapy, including aggressive surgery, is warranted. This review will address DSRCT biology and treatment options and discuss outcomes.
Topics: Antineoplastic Agents; Chemotherapy, Adjuvant; Cytoreduction Surgical Procedures; Desmoplastic Small Round Cell Tumor; Humans; Neoplasm Staging; Peritoneal Neoplasms; Peritoneum; Radiotherapy, Adjuvant
PubMed: 27955733
DOI: 10.1053/j.sempedsurg.2016.09.005 -
Journal of Family Medicine and Primary... May 2020Desmoplastic ameloblastoma (DA) is a rare variant of ameloblastoma, accounting for approximately 4 to 13% of ameloblastomas. It is uncommon, aggressive in nature, and...
Desmoplastic ameloblastoma (DA) is a rare variant of ameloblastoma, accounting for approximately 4 to 13% of ameloblastomas. It is uncommon, aggressive in nature, and there are high chances of misdiagnosis. Clinical and radiographical features are similar to fibro-osseous lesions of jaw. We reported a case of 35-year-old male patient of DA.
PubMed: 32754542
DOI: 10.4103/jfmpc.jfmpc_322_20 -
APMIS : Acta Pathologica,... Apr 2016Desmoplastic nested spindle cell tumour of liver (DNSTL), nested stromal-epithelial tumour (NSET) and calcifying nested stromal-epithelial tumour (CNSET) are recently... (Review)
Review
Desmoplastic nested spindle cell tumour of liver (DNSTL), nested stromal-epithelial tumour (NSET) and calcifying nested stromal-epithelial tumour (CNSET) are recently described entities with similar morphology, immunohistochemistry and molecular genetics. These are rare entities with only three large case series described till date. These tumours commonly present in the paediatric age group. NSETs, in addition have been described to be associated with ectopic adrenocorticotropic hormone (ACTH) production and Cushingoid features. It is important to discuss this rare group of tumours with a low malignant potential as the most common radiological differential diagnosis is hepatoblastoma, which has a relatively poorer prognosis. Thus, a pathologist needs to keep this entity in mind, so as to offer a correct histological diagnosis.
Topics: Adolescent; Adrenocorticotropic Hormone; Carcinoma; Child; Child, Preschool; Desmoplastic Small Round Cell Tumor; Diagnosis, Differential; Epithelial Cells; Gene Expression; Hepatoblastoma; Humans; Liver; Liver Neoplasms; Prognosis; Stromal Cells; Young Adult
PubMed: 26994733
DOI: 10.1111/apm.12502 -
Diagnostic Pathology Jan 2022Desmoplastic 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... (Review)
Review
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.
Topics: Adult; Biomarkers, Tumor; Desmoplastic Small Round Cell Tumor; Gene Rearrangement; Humans; Male; RNA-Binding Protein EWS; Submandibular Gland Neoplasms
PubMed: 34996495
DOI: 10.1186/s13000-021-01183-3