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Journal of the European Academy of... Jun 2021Desmoplastic melanomas are uncommon. Their behaviour differs from that of other melanoma subtypes; therefore, management guidelines for non-desmoplastic melanomas may... (Review)
Review
Desmoplastic melanomas are uncommon. Their behaviour differs from that of other melanoma subtypes; therefore, management guidelines for non-desmoplastic melanomas may not be applicable. This review sought to examine all available evidence relating to the behaviour and management of desmoplastic melanomas, based on review of all relevant English-language publications, and to critically assess the recommendations for their management in current published melanoma management guidelines. Compared with other melanoma subtypes, patients with 'pure' desmoplastic melanomas (where ≥90% of the invasive melanoma is of desmoplastic melanoma subtype) have much lower rates of sentinel node positivity and distant metastasis. Local recurrence rates are higher for desmoplastic melanomas, but resection margins wider than those recommended for non-desmoplastic melanomas have not been shown to be of benefit. Adjuvant radiotherapy reduces the risk of local recurrence when a satisfactory histological clearance (≥8 mm) cannot be achieved. Of 29 published melanoma management guidelines identified, only 11 specified management for desmoplastic melanomas, while seven simply stated that the feature should be reported. Desmoplastic melanoma is a unique melanoma subtype with biology that differs from that of other melanoma subtypes. It requires specific management strategies but few current guidelines address these.
Topics: Humans; Margins of Excision; Melanoma; Skin Neoplasms
PubMed: 33544941
DOI: 10.1111/jdv.17154 -
The Pan African Medical Journal 2019The term desmoplastic infantile ganglioglioma was coined by VandenBerg et al in 1987. In their first report these authors referred to a rare, distinct brain tumor. About...
The term desmoplastic infantile ganglioglioma was coined by VandenBerg et al in 1987. In their first report these authors referred to a rare, distinct brain tumor. About 60 cases of desmoplastic infantile ganglioglioma have been described in the literature since its first description. We report a case of a 6-year-old girl who was admitted for seizure without family history. Magnetic resonance imaging scan showed a hypodense area in the right temporal region. A right temporal craniotomy was performed and the tumor was excised. The pathologic examination revealed the diagnosis of desmoplastic infantile ganglioglioma.
Topics: Brain Neoplasms; Child; Craniotomy; Female; Ganglioglioma; Humans; Magnetic Resonance Imaging; Seizures
PubMed: 31223403
DOI: 10.11604/pamj.2019.32.113.12669 -
Surgical Pathology Clinics Sep 2009Desmoplastic melanoma (DM) is a variant of spindle cell melanoma characterized by the presence of abundant fibrous matrix. It is typically found in the head and neck... (Review)
Review
Desmoplastic melanoma (DM) is a variant of spindle cell melanoma characterized by the presence of abundant fibrous matrix. It is typically found in the head and neck region on chronically sun-damaged skin of older individuals. Early detection is uncommon, because its clinical features are not distinctive. DM is prone to misdiagnosis not only clinically but also histologically. It may simulate a sclerosing melanocytic nevus and various benign and malignant nonmelanocytic lesions. Among melanomas said to be desmoplastic by various pathologists there is significant variation with regard to the extent of intratumoral fibrosis. It may be prominent throughout the entire tumor (pure DM) or represent a portion of an otherwise nondesmoplastic melanoma (combined DM). Immunophenotypically, DM are usually strongly and homogeneously positive for S-100 protein, but are often negative or only focally positive for melanocyte differentiation antigens. DM differs from conventional melanoma in its clinical course. It is associated with a higher tendency for local recurrence, but metastases to regional lymph nodes are less common.
PubMed: 26838536
DOI: 10.1016/j.path.2009.08.009 -
The International Journal of... Apr 2023Desmoplastic small round cell tumour (DSRCT) is an ultra-rare soft tissue sarcoma that is characterised by aggressive disease and dismal patient outcomes. Despite... (Review)
Review
Desmoplastic small round cell tumour (DSRCT) is an ultra-rare soft tissue sarcoma that is characterised by aggressive disease and dismal patient outcomes. Despite multi-modal therapy, prognosis remains poor and there are currently no effective targeted therapies available for patients with this disease. Advances in comprehensive molecular profiling approaches including next generation sequencing and proteomics hold the promise of identifying new therapeutic targets and biomarkers. In this review, we provide an overview of the current status of molecular profiling studies in DSRCT patient specimens and cell lines, highlighting the key genomic, epigenetic and proteomic findings that have contributed to our biological knowledge base of this recalcitrant disease. In-depth analysis of these molecular profiles has led to the identification of promising novel and repurposed candidate therapies that are suitable for translation into clinical trials. We further provide a perspective on how future integrated studies including proteogenomics could further enrich our understanding of this ultra-rare entity and deliver progress that will ultimately impact the outcomes of patients with DSRCT.
Topics: Humans; Desmoplastic Small Round Cell Tumor; Proteomics; Biomarkers
PubMed: 36736718
DOI: 10.1016/j.biocel.2023.106383 -
Actas Dermo-sifiliograficas Jan 2022Desmoplastic melanoma (DM) accounts for 0.4% to 4% of all melanomas. These skin tumors are mainly formed by amelanotic spindled melanocytes immersed in an abundant... (Review)
Review
Desmoplastic melanoma (DM) accounts for 0.4% to 4% of all melanomas. These skin tumors are mainly formed by amelanotic spindled melanocytes immersed in an abundant collagen stroma and are classified as pure when the desmoplastic component accounts for at least 90% of the invasive tumor and as mixed or combined otherwise. DMs are more common in men (male to female ratio, 1.7 to 2:1), and the mean age at diagnosis is 66 to 69 years. The tumors tend to occur in chronically sun-exposed areas, often in association with lentigo maligna, and are difficult to recognize because they can resemble a scar, presenting as a firm, unpigmented papule or plaque with poorly defined borders. DMs also have a strong tendency to recur locally, and pure variants rarely spread to the lymph nodes. Nonetheless, recently published series suggest that patients with DM have a similar prognosis to those with nondesmoplastic melanoma of the same thickness. The clinical management of DM varies in certain aspects from that of other melanomas and is reviewed in this article.
PubMed: 35249710
DOI: 10.1016/j.ad.2021.06.004 -
Head and Neck Pathology Sep 2022Mucosal melanoma is a rare subtype of melanoma that accounts for 1% of all melanomas. The incidence of nasal mucosal melanomas is 0.3 per million. Desmoplastic melanomas... (Review)
Review
Mucosal melanoma is a rare subtype of melanoma that accounts for 1% of all melanomas. The incidence of nasal mucosal melanomas is 0.3 per million. Desmoplastic melanomas are a subtype of melanoma with a reported incidence of 2.0 per million. Although 50% of desmoplastic melanomas are found in the head and neck region, mucosal desmoplastic melanoma is exceedingly rare. In the present study, we report a case of nasal mucosal desmoplastic melanoma and review the literature. A 79-year-old female presented to an outside otolaryngologist with nasal discomfort accompanied by rhinorrhea and was found to have a nasal vestibule mass. An endonasal incisional biopsy was performed yielding a diagnosis of a SOX-10 positive tumor. The patient was referred to our institution for further management. A blue-tinged lesion was identified at the prior biopsy site, and the mass was resected via an open rhinoplasty approach. Final pathology demonstrated an infiltrative spindle cell neoplasm with immunohistochemical patterns supportive of desmoplastic melanoma arising from the nasal vestibule. Due to positive margins, the patient underwent a re-resection with no tumor identified on the re-resected specimen. To our knowledge, this is the third case of nasal mucosal desmoplastic melanoma. We review the clinicopathologic features and management of this rare entity.
Topics: Aged; Female; Humans; Melanoma; Nasal Mucosa; Nose Neoplasms
PubMed: 35257324
DOI: 10.1007/s12105-022-01429-6 -
Acta Pharmaceutica Sinica. B Nov 2020Desmoplastic tumors have an abundance of stromal cells and the extracellular matrix which usually result in therapeutic resistance. Current treatment prescriptions for... (Review)
Review
Desmoplastic tumors have an abundance of stromal cells and the extracellular matrix which usually result in therapeutic resistance. Current treatment prescriptions for desmoplastic tumors are usually not sufficient to eliminate the malignancy. Recently, through modulating cancer-associated fibroblasts (CAFs) which are the most abundant cell type among all stromal cells, natural products have improved chemotherapies and the delivery of nanomedicines to the tumor cells, showing promising ability to improve treatment effects on desmoplastic tumors. In this review, we discussed the latest advances in inhibiting desmoplastic tumors by modeling CAFs using natural products, highlighting the potential therapeutic abilities of natural products in targeting CAFs for cancer treatment.
PubMed: 33304782
DOI: 10.1016/j.apsb.2020.04.005 -
Asian Journal of Surgery Apr 2024
Topics: Humans; Desmoplastic Small Round Cell Tumor; Biomarkers, Tumor
PubMed: 38296682
DOI: 10.1016/j.asjsur.2024.01.038 -
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 -
Desmoplastic Small Round Cell Tumor of the Submandibular Gland: A Case Report and Literature Review.ORL; Journal For Oto-rhino-laryngology... 2022Desmoplastic small round cell tumor (DSRCT) is a rare and aggressively malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However,... (Review)
Review
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressively malignant tumor mostly occurring in the abdominal and pelvic cavity of young patients. However, few cases had been reported concerning DSRCT occurring in the head and neck region. We presented a rare case of DSRCT of the right submandibular in a 25-year-old man. MRI revealed a 3 × 2-cm solid nodule located in the right submandibular, and physical examination showed no other occupying lesion elsewhere. Histologically, the tumor was composed of various-sized small round cell nests, embedded in an abundant desmoplastic stroma. Immunohistochemically, the tumor cells were typically positive for epithelial (CK and EMA), mesenchymal (vimentin and desmin), and neuroendocrine (CD56, NSE, Syn, and CgA) markers, but negative for WT1. Fluorescence in situ hybridization revealed the presence of a break apart involving the Ewing sarcoma (EWS) gene. The patient received chemotherapy and radiotherapy and relapsed after 19 months of follow-up. DSRCT of the submandibular gland is rare, and the diagnosis of this tumor in an uncommon location relies on the histomorphology, immunophenotype, and EWS gene translocation detection. Differential diagnosis including primary salivary gland tumors and the other small round cell tumors needs to be excluded.
Topics: Adult; Desmoplastic Small Round Cell Tumor; Diagnosis, Differential; Head; Humans; In Situ Hybridization, Fluorescence; Male; Submandibular Gland
PubMed: 34320486
DOI: 10.1159/000517563