-
Asian Journal of Surgery Jan 2024
Topics: Humans; Desmoplastic Small Round Cell Tumor; Biomarkers, Tumor
PubMed: 37805326
DOI: 10.1016/j.asjsur.2023.09.147 -
Oncology Letters May 2016Desmoplastic small round cell tumors (DSRCTs) are rare and aggressive malignant tumors. The aim of the present study was to analyze computed tomography (CT) and...
Desmoplastic small round cell tumors (DSRCTs) are rare and aggressive malignant tumors. The aim of the present study was to analyze computed tomography (CT) and fluorodeoxyglucose positron emission tomography (FDG-PET)/CT imaging features of intra-abdominal desmoplastic DSRCT, and investigate the association of these features with histopathological results. The present study was a retrospective investigation of 4 patients with DSRCT. All patients underwent CT and dynamic CT, and 1 additionally underwent FDG-PET/CT scanning. Following a tumor resection, routine hematoxylin and eosin staining, and immunostaining, were performed and evaluated. Multiple large abdominopelvic masses were identified in all 4 patients; however, no indications of their site of origin were demonstrated. CT revealed soft-tissue masses with patchy foci of hypodense lesions. Contrast-enhanced CT revealed slightly or moderately heterogeneous enhancement of the lesions. Other observations from these patients included calcification (n=2), peritoneal seeding (n=3), hepatic metastasis (n=3), retroperitoneal lymphadenopathy (n=3) and ascites (n=2). FDG-PET/CT revealed multiple nodular increased FDG uptake in the abdominopelvic masses, and in the liver and peritoneum in 1 case. Intra-abdominal DSRCT demonstrated significant diagnostic characteristics on plain and contrast-enhanced CT. Multiple, bulky soft-tissue masses inside the peritoneal cavity, particularly in male adolescents and young adults, should be considered as potential cases of DSRCT. FDG-PET/CT techniques may be utilized to aid the staging of tumors.
PubMed: 27123106
DOI: 10.3892/ol.2016.4421 -
Journal of Medical Case Reports Oct 2021Desmoplastic small round cell tumor is a rare malignancy with poor prognosis, affecting young male patients. It frequently presents as a large abdominal mass with...
INTRODUCTION
Desmoplastic small round cell tumor is a rare malignancy with poor prognosis, affecting young male patients. It frequently presents as a large abdominal mass with widespread peritoneal involvement at diagnosis. In late stages, metastases may be present.
AIM
We retrospectively reviewed patient characteristics, presenting symptoms, tumor pathology, treatment, and outcome of four patients with desmoplastic small round cell tumor at our institution.
CASES PRESENTATION
The first three cases reported are 32-, 17-, and 30-year-old North African males with intraabdominal desmoplastic small round cell tumor treated by surgery, chemotherapy, and radiation therapy with different follow-ups. The final case is a 16-year-old North African male with ganglionic desmoplastic small round cell tumor but no evidence of a tissue mass. He underwent two lines of chemotherapy with no response. The patient was lost after 2 years of follow-up. In all cases, desmoplastic small round cell tumor was confirmed by presence of t(11,22) (p13,q12) translocation.
CONCLUSION
Treatment of desmoplastic small round cell tumor is based on multidisciplinary therapy. Despite high-dose chemotherapy, extensive surgical resection, and radiotherapy, desmoplastic small round cell tumor remains lethal.
Topics: Abdominal Cavity; Adolescent; Adult; Desmoplastic Small Round Cell Tumor; Humans; Male; Retrospective Studies; Translocation, Genetic
PubMed: 34635162
DOI: 10.1186/s13256-021-03094-9 -
Multidisciplinary Respiratory Medicine 2017Desmoplastic small round cell tumor of the pleura is a rare malignancy, with only a few cases reported in the scientific literature. The aim of the present review is to... (Review)
Review
Desmoplastic small round cell tumor of the pleura is a rare malignancy, with only a few cases reported in the scientific literature. The aim of the present review is to discuss the demographic, pathological, clinical, and therapeutic features of this rare tumor. English-language articles published since 1989, when the first case of desmoplastic small round cell tumor of the pleura was described, were retrieved, and fifteen cases included in fourteen articles were revised. The mean age of the patients was 25.5 years, out of them 60% were males. Chest pain, pleural effusion, and dyspnea were the most common clinical manifestations, while chest roentgenogram and computed tomography were the imaging techniques most commonly used. Surgical biopsy was employed in 80% of the cases for diagnosis. A multidisciplinary approach consisting in a combination of surgery with chemotherapy and radiation therapy was adopted in most cases. Only two patients (13.3%) were alive at 3 years from diagnosis, reflecting the aggressiveness of the disease, and the poor outcomes of the treatments currently available. Desmoplastic small round cell tumors of the pleura are extremely aggressive and challenging to diagnose, because of their rarity and unspecific demographic, clinical, and radiological features. An in-depth knowledge of such features is necessary for the optimal management of patients with this rare malignancy.
PubMed: 28904792
DOI: 10.1186/s40248-017-0103-6 -
Modern Pathology : An Official Journal... Apr 2014Spindle cell melanoma and desmoplastic melanoma differ clinically in prognosis and therapeutic implications; however, because of partially overlapping histopathological...
Spindle cell melanoma and desmoplastic melanoma differ clinically in prognosis and therapeutic implications; however, because of partially overlapping histopathological features, diagnostic distinction of spindle cell from desmoplastic melanoma is not always straightforward. A direct comparison of diagnostic and therapeutic biomarkers has not been performed. Meta-review of the literature discloses key clinicopathological differences between spindle cell and desmoplastic melanoma, including immunophenotypes. Using 50 biomarkers available in routine diagnostics, we examined 38 archival cases (n=16 spindle, 18 desmoplastic, 4 mixed spindle/desmoplastic melanoma). S100 remains as the most reliable routine marker to reach the diagnosis of melanoma in spindle cell and desmoplastic melanoma. We identified nine distinctly labeling markers with spindle cell melanoma showing positivity for laminin, p75, HMB45, c-kit, and MelanA, and desmoplastic melanoma preferentially labeling with collagen IV, trichrome, CD68, and MDM2. On the basis of comparisons of test performance measures, MelanA and trichrome were used to devise a 94% sensitive diagnostic algorithm for the distinction of desmoplastic from spindle cell melanoma. Gene amplification and expression status was assessed for a set of potentially drugable targets (HER2, EGFR, MET, MDM2, TP53, ALK, MYC, FLI-1, and KIT). Fluorescent in situ hybridizations did not reveal a significant number of gene aberrations/rearrangements; however, protein overexpression for at least one of these markers was identified in 35 of 38 cases (92%). In addition, we found BRAF mutations in 31% of spindle cell and 5% of desmoplastic melanoma, with an overall mutation frequency of 16% (n=6/38). We present the first comprehensive screening study of diagnostic and therapeutic biomarkers in spindle cell and desmoplastic melanoma. The devised algorithm allows diagnostic distinction of desmoplastic from spindle cell melanoma when routine histology is not decisive.
Topics: Adult; Aged; Aged, 80 and over; Algorithms; Biomarkers, Tumor; DNA Mutational Analysis; Diagnosis, Differential; Female; Gene Amplification; Genetic Predisposition to Disease; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Male; Melanoma; Middle Aged; Mutation; Phenotype; Predictive Value of Tests; Prognosis; Skin Neoplasms
PubMed: 24051699
DOI: 10.1038/modpathol.2013.162 -
Modern Pathology : An Official Journal... Feb 2008Even though immunohistochemical comparisons of microcystic adnexal carcinoma vs infiltrative basal cell carcinoma and desmoplastic trichoepithelioma exist, they are...
Even though immunohistochemical comparisons of microcystic adnexal carcinoma vs infiltrative basal cell carcinoma and desmoplastic trichoepithelioma exist, they are mostly restricted to the use of a single stain. In addition, a comparison with squamous cell carcinoma has not been reported previously. In this study, we compare the expression of cytokeratin (CK) 15, CK7, CK20, CK903, carcinoembryonic antigen (CEA), CD10, CD15 and BerEP4 in 13 microcystic adnexal carcinoma, eight desmoplastic trichoepithelioma, 10 infiltrative basal cell carcinoma, and eight squamous cell carcinoma of which five exhibited ductal differentiation. We found that the majority of microcystic adnexal carcinoma (92%) and desmoplastic trichoepithelioma (100%) cases expressed CK15 while the infiltrative basal cell carcinoma and squamous cell carcinoma cases were all negative. Forty percent of infiltrative basal cell carcinoma expressed CK7; while only two microcystic adnexal carcinoma cases (15%) and one squamous cell carcinoma with ductal differentiation (12%) expressed CK7 in the remaining three tumor categories. None of the desmoplastic trichoepithelioma expressed CK7. All tumors were strongly positive for CK903. While the neoplastic cells were negative, luminal staining of ductal structures was noted for CK7, CD15 and CEA in some of the microcystic adnexal carcinoma, desmoplastic trichoepithelioma and squamous cell carcinoma with ductal differentiation cases. Sixty percent of infiltrative basal cell carcinoma, 31% of microcystic adnexal carcinoma, and 25% of squamous cell carcinoma express CD10. BerEP4 expression was noted in 38% of microcystic adnexal carcinoma, 57% of desmoplastic trichoepithelioma, 100% of infiltrative basal cell carcinoma, and 38% of squamous cell carcinoma. In conclusion, we found CK15 to be a useful marker in distinguishing microcystic adnexal carcinoma from infiltrative basal cell carcinoma and squamous cell carcinoma with ductal differentiation. Our experience indicates that microcystic adnexal carcinoma and desmoplastic trichoepithelioma have a similar immunohistochemical profile that is, CK15+ and BerEP4+/-; thus, additional studies are needed to separate these two entities.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Carcinoma, Basal Cell; Carcinoma, Skin Appendage; Carcinoma, Squamous Cell; Diagnosis, Differential; Female; Head and Neck Neoplasms; Humans; Immunohistochemistry; Keratin-15; Male; Middle Aged; Skin Neoplasms
PubMed: 18065959
DOI: 10.1038/modpathol.3801000 -
Annals of the Royal College of Surgeons... Apr 2020Desmoplastic small round-cell tumour is a very rare neoplasm, which usually arises from the abdominal or pelvic peritoneum of adolescents and young adults. Early... (Review)
Review
Desmoplastic small round-cell tumour is a very rare neoplasm, which usually arises from the abdominal or pelvic peritoneum of adolescents and young adults. Early diagnosis is difficult, because most tumours present with non-specific gastrointestinal symptoms after a long asymptomatic period. It is generally a very aggressive tumour, which grows rapidly with poor prognosis and an overall five-year survival rate of 15% despite multimodal treatment. Despite multiple treatment strategies, the management of desmoplastic small round-cell tumour still remains a clinical challenge and no consensus about a therapeutic protocol has been established. A 35-year-old man presented with mild abdominal pain, constipation and weight gain, and was eventually diagnosed with desmoplastic small round-cell tumour, which was shown to be limited to the abdomen. After incomplete debulking surgery, radiotherapy and chemotherapy, he developed multiple metastatic nodular foci in chest and the pleura and, unfortunately, he died due to disease progression.
Topics: Adult; Chemoradiotherapy, Adjuvant; Cytoreduction Surgical Procedures; Desmoplastic Small Round Cell Tumor; Fatal Outcome; Humans; Male; Peritoneal Cavity; Peritoneal Neoplasms; Tomography, X-Ray Computed
PubMed: 31973562
DOI: 10.1308/rcsann.2019.0180 -
Cancers Mar 2021The categorisation of desmoplastic reaction (DR) present at the colorectal cancer (CRC) invasive front into mature, intermediate or immature type has been previously...
The categorisation of desmoplastic reaction (DR) present at the colorectal cancer (CRC) invasive front into mature, intermediate or immature type has been previously shown to have high prognostic significance. However, the lack of an objective and reproducible assessment methodology for the assessment of DR has been a major hurdle to its clinical translation. In this study, a deep learning algorithm was trained to automatically classify immature DR on haematoxylin and eosin digitised slides of stage II and III CRC cases ( = 41). When assessing the classifier's performance on a test set of patient samples ( = 40), a Dice score of 0.87 for the segmentation of myxoid stroma was reported. The classifier was then applied to the full cohort of 528 stage II and III CRC cases, which was then divided into a training ( = 396) and a test set ( = 132). Automatically classed DR was shown to have superior prognostic significance over the manually classed DR in both the training and test cohorts. The findings demonstrated that deep learning algorithms could be applied to assist pathologists in the detection and classification of DR in CRC in an objective, standardised and reproducible manner.
PubMed: 33807394
DOI: 10.3390/cancers13071615 -
Molecular Cancer Research : MCR Jul 2021Desmoplastic small round cell tumor (DSRCT) is characterized by the t(11;22) (p13:q12) translocation. Few additional putative drivers have been identified, and research...
Desmoplastic small round cell tumor (DSRCT) is characterized by the t(11;22) (p13:q12) translocation. Few additional putative drivers have been identified, and research has suffered from a lack of model systems. Next-generation sequencing (NGS) data from 68 matched tumor-normal samples, whole-genome sequencing data from 10 samples, transcriptomic and affymetrix array data, and a bank of DSRCT patient-derived xenograft (PDX) are presented. fusions were noted to be simple, balanced events. Recurrent mutations were uncommon, but were noted in (3%), (6%), (5%), and (3%), and recurrent loss of heterozygosity (LOH) at 11p, 11q, and 16q was identified in 18%, 22%, and 34% of samples, respectively. Comparison of tumor-normal matched versus unmatched analysis suggests overcalling of somatic mutations in prior publications of DSRCT NGS data. Alterations in fibroblast growth factor receptor 4 () were identified in 5 of 68 (7%) of tumor samples, whereas differential overexpression of was confirmed orthogonally using 2 platforms. PDX models harbored the pathognomic fusion and were highly representative of corresponding tumors. Our analyses confirm DSRCT as a genomically quiet cancer defined by the balanced translocation, t(11;22)(p13:q12), characterized by a paucity of secondary mutations but a significant number of copy number alterations. Against this genomically quiet background, recurrent activating alterations of stood out, and suggest that this receptor tyrosine kinase, also noted to be highly expressed in DSRCT, should be further investigated. Future studies of DSRCT biology and preclinical therapeutic strategies should benefit from the PDX models characterized in this study. IMPLICATIONS: These data describe the general quiescence of the desmoplastic small round cell tumor (DSRCT) genome, present the first available bank of DSRCT model systems, and nominate as a key receptor tyrosine kinase in DSRCT, based on high expression, recurrent amplification, and recurrent activating mutations.
Topics: Adolescent; Adult; Cell Line, Tumor; Child; DNA Copy Number Variations; Desmoplastic Small Round Cell Tumor; Female; Gene Expression Profiling; Gene Expression Regulation, Neoplastic; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Multiplex Polymerase Chain Reaction; Oncogene Proteins, Fusion; RNA-Binding Protein EWS; Receptor, Fibroblast Growth Factor, Type 4; WT1 Proteins; Young Adult
PubMed: 33753552
DOI: 10.1158/1541-7786.MCR-20-0722 -
Nigerian Medical Journal : Journal of... 2015A fibroma is a benign tumour composed of fibrous connective tissue and they can grow in all organs. They can be classified based on consistency into hard or soft...
A fibroma is a benign tumour composed of fibrous connective tissue and they can grow in all organs. They can be classified based on consistency into hard or soft fibroma, based on histological characteristics into desmoplastic, chondromyxoid, ossifying, non-ossifying fibroma. They can also be classified based on tissue of origin or location in the body, it can also be classified into superficial or deep fibroma. This is a report of a 15-year-old Nigerian boy with a recurrent left ulnar tumour which was rapidly growing and has been excised three times. Preoperative investigations, i.e., plain radiograph, full blood count and fine needle aspiration cytology were done. Patient could not afford CT scan which was requested for. First excision was in 2009. Recurred within 1 year and had a repeat excision in 2011. He had a second recurrence 9 months after and had to have another excision. The last tumour excision left only the part of the left ulna that forms the proximal radioulnar joint and elbow joint. Patient has been followed up after the last excision for 18 months with no recurrence.
PubMed: 25838634
DOI: 10.4103/0300-1652.153408