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Journal of Minimal Access Surgery 2018A 46-year-old man was referred to our department due to chronic chest pain. A computed tomography showed an exophytic image arising from 5th rib that was projected on...
A 46-year-old man was referred to our department due to chronic chest pain. A computed tomography showed an exophytic image arising from 5th rib that was projected on the middle lobule. The patient underwent an exploratory videothoracoscopic because we couldn't discard lung compromise. A corneal-like lesion emerging from the inner side of the 5th rib was revealed. Complete video-assited resection was done. Histopathology examination revealed a desmoplastic fibroblastoma. To our knowledge this is the first case of desmoplastic fibroblastoma arising from a rib and the second case published in all literature of chest wall involvement.
PubMed: 29319020
DOI: 10.4103/jmas.JMAS_210_17 -
The Journal of Investigative Dermatology Oct 2020Perineural infiltration (PNI) and desmoplasia are believed to be high-risk factors in the prognosis of squamous cell carcinoma (SCC). In the literature, dependences...
Perineural infiltration (PNI) and desmoplasia are believed to be high-risk factors in the prognosis of squamous cell carcinoma (SCC). In the literature, dependences between PNI, de-differentiation, and desmoplasia remain unclear. The aim of this study was to analyze the respective prognostic impact of these factors in regard to local recurrence and metastasis. Between 2005 and 2015, 1,399 unselected primary SCCs of 1,434 patients were diagnosed. If a patient had multiple tumors, the tumor with the highest risk profile was selected. Histological sections of all tumors with a tumor thickness of ≥6 mm and desmoplastic SCC with a tumor thickness of 2.1-5.9 mm were re-examined for PNI. Median follow-up was 36.5 months. PNI was present exclusively within tumors of the desmoplastic type (14.5%). PNI was present significantly more often in patients developing lymph node metastasis (3% all non-desmoplastic SCC, 17% desmoplastic SCC, and 29% desmoplastic SCC with PNI) and local recurrence (3%, 26%, and 64%) and associated with overall tumor-specific death (4%, 25%, and 54%). Using a multivariate model of disease recurrence, tumor thickness ≥6 mm, tumor horizontal size ≥20 mm, immunosuppression, desmoplasia, and PNI remained significant factors. In conclusion, PNI was found to be an additional marker indicative of an unfavorable prognosis and an independent high-risk factor within the desmoplastic type of SCC.
Topics: Adult; Aged; Aged, 80 and over; Carcinoma, Squamous Cell; Female; Humans; Likelihood Functions; Lymphatic Metastasis; Male; Middle Aged; Neoplasm Invasiveness; Neoplasm Recurrence, Local; Peripheral Nerves; Prognosis; Proportional Hazards Models; Prospective Studies; Skin Neoplasms
PubMed: 32169476
DOI: 10.1016/j.jid.2020.01.035 -
Frontiers in Oncology 2021Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor...
Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor prognosis. The mechanism underlying the development of this neoplasm remains elusive, but all cases are characterized by the chromosomal translocation t (11;22) (p13; q12), which results in a formation of EWSR1-WT1 gene fusion. The diagnosis of IDSRCT is often made with core-needle tissue biopsy specimens or laparoscopy or laparotomy. Immunohistochemical analyses have shown the co-expression of epithelial, neuronal, myogenic, and mesenchymal differentiation markers. FISH or reverse transcription polymerase chain reaction detecting EWS-WT1 fusion can be performed to assist in molecular confirmation. There is no standard of care for patients with IDSRCT currently, and majority of newly diagnosed patients received the aggressive therapy, which includes >90% resection of surgical debulking, high-dose alkylator-based chemotherapy, and radiotherapy. More recently, targeted therapy has been increasingly administered to recurrent IDSRCT patients and has been associated with improved survival in clinical conditions. Immunotherapy as a possible therapeutic strategy is being explored in patients with IDSRCT. In this review, we summarize currently available knowledge regarding the epidemiology, potential mechanisms, clinical manifestations, diagnosis, treatment, and prognosis of IDSRCT to assist oncologists in comprehensively recognizing and accurately treating this malignancy.
PubMed: 34604040
DOI: 10.3389/fonc.2021.705760 -
Modern Pathology : An Official Journal... Mar 2019Superficial/cutaneous malignant peripheral nerve sheath tumor is a rare soft tissue neoplasm that shares morphological, immunohistochemical, and molecular features with...
Superficial/cutaneous malignant peripheral nerve sheath tumor is a rare soft tissue neoplasm that shares morphological, immunohistochemical, and molecular features with spindle/desmoplastic melanoma. We aimed to identify a methylome signature to distinguish these two entities. We analyzed 15 cases of spindle/desmoplastic melanoma and 15 cases of cutaneous malignant peripheral nerve sheath tumor in 23 men and 7 women. DNA from formalin-fixed, paraffin-embedded tissues was extracted and processed using the Illumina Infinium Methylation EPIC array interrogating 866,562 CpG sites. Using a home-grown informatics pipeline, we identified differentially methylated positions between the two entities. Functional network analysis for enrichment signatures was performed using DAVID tools. Identified differentially methylated positions were compared with the Cancer Genome Atlas's cutaneous melanoma dataset and a recently published malignant peripheral nerve sheath tumor dataset to assess the specificity of the identified signature. Unsupervised hierarchical clustering showed different patterns of methylation in cutaneous malignant peripheral nerve sheath tumor and spindle/desmoplastic melanoma. Two probes, cg20783223 and cg13332552, colocalized in the promoter region of BCAT1 and miR-2504. Pathway analysis highlighted enrichment in a subset of genes involved in breast and gastric cancer centered on BCAT1 and downstream activated genes in the mTOR pathway. Our study identifies BCAT1 as a novel methylome signature distinguishing spindle/desmoplastic melanoma from cutaneous malignant peripheral nerve sheath tumor.
Topics: Adult; Aged; Biomarkers, Tumor; DNA Methylation; Diagnosis, Differential; Female; Humans; Male; Melanoma; MicroRNAs; Middle Aged; Neurofibrosarcoma; Skin Neoplasms; Soft Tissue Neoplasms; Transaminases; Young Adult; Melanoma, Cutaneous Malignant
PubMed: 30310175
DOI: 10.1038/s41379-018-0146-z -
Archives of Pathology & Laboratory... Apr 2015Recent immunohistochemical studies have demonstrated Sry-related HMG-Box gene 10 (SOX10) expression in malignant melanomas, malignant peripheral nerve sheath tumors, a...
CONTEXT
Recent immunohistochemical studies have demonstrated Sry-related HMG-Box gene 10 (SOX10) expression in malignant melanomas, malignant peripheral nerve sheath tumors, a subset of breast carcinomas, and gliomas. SOX10 has shown important clinical utility in its ability to detect desmoplastic and spindle cell melanomas. To date, most publications have employed a research use-only goat polyclonal SOX10 antibody for immunohistochemical staining.
OBJECTIVE
To describe the development of a new mouse monoclonal SOX10 antibody (BC34) and evaluate its immunohistochemical staining profile in a wide range of normal and neoplastic tissues, with an emphasis on melanoma.
DESIGN
SOX10 antibody was optimized for staining using a polymer detection system and visualization with diaminobenzidine.
RESULTS
In normal tissues, SOX10 was expressed in skin melanocytes and eccrine cells, breast myoepithelial and lobular epithelial cells, salivary gland myoepithelial cells, peripheral nerve Schwann cells, and central nervous system glial cells. SOX10 was expressed in 238 of 257 melanomas (92.6%), including 50 of 51 of both spindle cell and desmoplastic melanomas (98%). SOX10 was expressed in 100% of nevi (20 of 20) and schwannomas (28 of 28). In other neoplasms, SOX10 was expressed in 18 of 109 invasive ductal breast carcinomas (16.5%). All other carcinomas were negative for SOX10. SOX10 was identified in 25 of 52 central nervous system neoplasms, primarily in astrocytomas (22 of 41; 53.7%), and in 4 of 99 various sarcomas examined (4.0%).
CONCLUSIONS
The newly developed mouse monoclonal SOX10 antibody BC34 is highly sensitive and specific for malignant melanoma, including desmoplastic and spindle cell variants, and appears highly suitable for clinical use.
Topics: Animals; Antibodies, Monoclonal; Antibody Specificity; Astrocytoma; Biomarkers, Tumor; Breast Neoplasms; Carcinoma, Ductal, Breast; Epithelial Cells; Female; Humans; Immunohistochemistry; Melanocytes; Melanoma; Mice, Inbred BALB C; Neurilemmoma; Nevus; Reproducibility of Results; SOXE Transcription Factors; Sensitivity and Specificity; Skin Neoplasms
PubMed: 25436903
DOI: 10.5858/arpa.2014-0077-OA -
World Journal of Surgical Oncology Jan 2014Desmoplastic small round cell tumor is a rare malignant tumor that has a poor prognosis. It affects predominantly young males. In the current report, a 14-year-old male... (Review)
Review
Desmoplastic small round cell tumor is a rare malignant tumor that has a poor prognosis. It affects predominantly young males. In the current report, a 14-year-old male patient was admitted to the hospital for evaluation of abdominal distension, and abdominal pain. Imaging examination revealed a high prevalence of multiple intraperitoneal and liver parenchymal cystic and solid tumors. After an explorative surgery, the pathological findings confirmed the presentation of desmoplastic small round cell tumor. Diagnosis of desmoplastic small round cell tumor could easily have been overlooked since there was no specific evidence for this condition available in the clinical and imaging examinations. In the present study, ultrasound examination detected solid cystic masses, which suggested the presence of necrosis and hemorrhage. Immunohistochemistry and cytogenetic studies confirmed the diagnosis of desmoplastic small round cell tumor in this patient.
Topics: Abdominal Neoplasms; Adolescent; Biomarkers, Tumor; Desmoplastic Small Round Cell Tumor; Humans; Immunoenzyme Techniques; Male; Prognosis
PubMed: 24410799
DOI: 10.1186/1477-7819-12-9 -
Pathology Mar 2023Desmoplastic melanoma (DM) is an uncommon subtype of melanoma with distinct clinicopathological features. It is classified into pure desmoplastic melanoma (PDM) when the...
Desmoplastic melanoma (DM) is an uncommon subtype of melanoma with distinct clinicopathological features. It is classified into pure desmoplastic melanoma (PDM) when the proportion of desmoplastic melanoma is ≥90% of the dermally-invasive component, and mixed desmoplastic melanoma (MDM) when the proportion of desmoplastic melanoma is <90%. Studies have reported a lower sentinel lymph node biopsy (SLNB)-positivity rate in PDM compared to MDM and non-DM. As a result, some have recommended not performing SLNB in PDM patients. When PDM is identified in a partial biopsy of a melanoma, there is a risk that sampling bias may under-recognise MDM, but to the best of our knowledge this has not been previously assessed or quantified. The aim of this study was to assess the concordance of the proportion of desmoplastic melanoma in an initial partial biopsy of PDM with the proportion in the entire tumour following complete excision, in patients with cutaneous melanoma. A secondary aim was to determine how frequently this potentially resulted in a patient not receiving a SLNB. Seventy-eight cases of cutaneous melanoma were identified from the Melanoma Institute Australia (MIA) database and 23 cases from the Memorial Sloan Kettering Cancer Centre (MSKCC), where an initial biopsy contained PDM and a subsequent wide excision had residual invasive melanoma. Clinicopathological features were analysed in all patients, including whether a SLNB was performed, the results of SLNB, and any subsequent recurrence. Ninety percent (91/101) of cases were still classified as PDM in the complete wide excision specimen while 10% (10/101) of cases were reclassified as MDM, which was a significant change in classification of final desmoplastic melanoma subtype (p<0.001). The proportion of desmoplastic melanoma was also significantly different between the initial and excisional biopsies (p=0.004). Forty-eight (48/101) patients had a SLNB, of which two (4.5%) were positive for metastatic melanoma; both cases were PDM in the excision specimen. Of the 10 cases demonstrating MDM in the excision specimen, the initial biopsy was a punch biopsy in six cases, shave biopsy in two cases and subcutaneous tissue was sampled in two patients (one punch biopsy, one incisional biopsy). Four of these 10 patients underwent SLNB which was negative in all cases. Twenty-two patients developed recurrence in the follow-up period (median 30 months, range 1-192 months), three with MDM in their excision specimen. One patient did not have a SLNB and developed regional lymph node recurrence. In this study there was a 10% risk that the percentage of desmoplastic melanoma in an initial biopsy of PDM was not representative of the entire lesion, resulting in reclassification as MDM in the excision specimen. If a SLNB is not performed in such cases, a positive SLNB may be missed (one patient in our study) which could impact treatment options for the patient. We recommend caution in not offering a SLNB in the setting of an initial biopsy of PDM if the biopsy is small compared with the overall lesion. If a SLNB is not procured at the time of wide excision in such cases, the SLNs should still be mapped by lymphoscintigraphy to facilitate careful follow up and to enable earlier detection and treatment of nodal disease.
Topics: Humans; Melanoma; Skin Neoplasms; Sentinel Lymph Node Biopsy; Lymph Nodes; Retrospective Studies; Melanoma, Cutaneous Malignant
PubMed: 36646575
DOI: 10.1016/j.pathol.2022.12.346 -
Journal of Radiology Case Reports Jul 2016We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as... (Review)
Review
We present a case series of a rare tumor, the desmoplastic infantile ganglioglioma (DIG) with MRI diffusion and perfusion imaging quantification as well as histopathologic characterization. Four cases with pathologically-proven DIG had diffusion weighted imaging (DWI) and two of the four had dynamic susceptibility contrast imaging. All four tumors demonstrate DWI findings compatible with low-grade pediatric tumors. For the two cases with perfusion imaging, a higher relative cerebral blood volume was associated with higher proliferation index on histopathology for one of the cases. Our results are discussed in conjunction with a literature review.
Topics: Brain Neoplasms; Contrast Media; Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Female; Ganglioglioma; Humans; Infant; Male; Meglumine; Organometallic Compounds
PubMed: 27761184
DOI: 10.3941/jrcr.v10i7.2715 -
BMC Cancer Aug 2019Desmoplastic small round cell tumor (DSRCT) is a rare malignancy with poor prognosis that generally involves the peritoneum. Its diagnosis can be achieved only by... (Review)
Review
BACKGROUND
Desmoplastic small round cell tumor (DSRCT) is a rare malignancy with poor prognosis that generally involves the peritoneum. Its diagnosis can be achieved only by immunohistochemistry and cytogenetic studies.
CASE PRESENTATION
In the current report, a 55-year-old female was admitted in our hospital for evaluation of right eye epiphora and right nasal intermittent bleeding. Imaging examination revealed a large soft tissue mass in the right nasal cavity and ethmoid sinus. After an explorative surgery, the pathological findings confirmed the presentation of sinonasal DSRCT. Immunohistochemistry and cytogenetic studies confirmed the diagnosis of DSRCT in this patient. Surgical resection, chemotherapy, and radiotherapy was performed, and she died 2 months after operation.
CONCLUSION
This reported case draws attention to the importance of novel treatments and including DSRCT in the differential diagnosis of sinonasal tumors.
Topics: Chemoradiotherapy, Adjuvant; Desmoplastic Small Round Cell Tumor; Fatal Outcome; Female; Humans; Magnetic Resonance Imaging; Middle Aged; Nose Neoplasms; Otorhinolaryngologic Surgical Procedures; Tomography, X-Ray Computed
PubMed: 31472674
DOI: 10.1186/s12885-019-6076-4 -
Medicine Jul 2020This study aim is to enhance the understanding, diagnosis and treatment of desmoplastic small round cell tumor (DSRCT) and to determine what factors can affect survival... (Observational Study)
Observational Study
This study aim is to enhance the understanding, diagnosis and treatment of desmoplastic small round cell tumor (DSRCT) and to determine what factors can affect survival of the disease in China.We report here 8 patients with DSRCT in our center who received a variety of treatment methods. By reviewing the literature published from Chinese database (CNKI, WANGFAN, VIP, CBM, CMCC) in 2000 to 2015 with the terms of "dsrct", "desmoplastic" and "small round-cell tumor",104 eligible cases of DSRCT(including 8 cases in our hospital) were retrospectively analyzed.Among the 104 patients, Median age was 24 years with a range of 15 to 54 years. The main primary tumor site was the abdomen and/or pelvis in 92/104 patients (88.5%). Only 25% of patients had localized disease. Most of the patients had received adjuvant chemotherapy (87.5%) and 76.9% patients had not experienced adjuvant radiotherapy. One-fourth of the patients underwent grossly complete surgical resection, and 33.7% and 41.3% patients received no surgery and incomplete surgical resection, respectively. Median overall survival for all patients was 26 months (95% CI: 20.29-31.71). Multivariate analysis revealed that Metastatic status (HR: 2.327, 95% CI: 1.136-4.768, P = .021), Surgical patterns (HR: 0.673, 95% CI: 0.487-0.928, P = .016), and Adjuvant chemotherapy (HR: 0.337, 95% CI: 0.167-0.678, P = .002) were significant independent prognostic factors for longer overall survival. It was noteworthy that CD99 were significantly associated with OS (P = .002).Here, we identified the prognostic factors which may facilitate risk-adapted treatments for this rare DSRCT group, which should be further investigated.
Topics: 12E7 Antigen; Abdomen; Adult; Chemotherapy, Adjuvant; China; Combined Modality Therapy; Desmoplastic Small Round Cell Tumor; Humans; Pelvis; Prognosis; Radiotherapy, Adjuvant; Retrospective Studies; Surgical Procedures, Operative; Survival Analysis
PubMed: 32791732
DOI: 10.1097/MD.0000000000021337