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Saudi Journal of Medicine & Medical... 2017Medulloblastoma is more common in young age and rare in adult age. Some characteristics that characterize medulloblastoma in adults compared with children: Lateral...
Medulloblastoma is more common in young age and rare in adult age. Some characteristics that characterize medulloblastoma in adults compared with children: Lateral cerebellar location, heterogeneous signal intensity on magnetic resonance imaging, desmoplastic histological variant and more favorable prognosis. Preoperative diagnosis is important for correct management of these patients. However, because of the low incidence of medulloblastoma in adults, preoperative diagnosis still challenging and prognostic factors and best treatment options are still controversial. We report a case of a 31-year-old male patient who presented with a rare case of posterior fossa medulloblastoma.
PubMed: 30787782
DOI: 10.4103/1658-631X.204861 -
The American Journal of Dermatopathology Dec 2020Desmoplastic melanoma can be difficult to diagnose and on average have a significantly higher T stage at the time of diagnosis compared with conventional melanomas....
Desmoplastic melanoma can be difficult to diagnose and on average have a significantly higher T stage at the time of diagnosis compared with conventional melanomas. Histologically, these tumors typically consist of spindle cells in a fibrous matrix. The spindle cells may display fibroblast and/or Schwann cell-like features. In this study, we describe the features of 12 cases of desmoplastic melanoma closely simulating neurofibroma. Although the spindle cells in these tumors may be indistinguishable from those of neurofibroma, features such as prominent fibroplasia (12/12), poor lateral circumscription (8/9), diffuse infiltration of subcutaneous tissue (7/9), and lymphoid aggregates (10/12) may be helpful clues to the diagnosis. No immunohistochemical markers were reliable in distinguishing neurofibroma-like desmoplastic melanomas from neurofibroma. Clinical follow-up was available in 8 cases, of which 4 were initially misdiagnosed as benign neoplasms and given no further re-excision. All 4 of these cases recurred; 2 of which showed transformation to a more aggressive phenotype.
Topics: Adult; Aged; Aged, 80 and over; Antigens, Neoplasm; Biomarkers, Tumor; Biopsy; Diagnosis, Differential; Diagnostic Errors; Female; Humans; Illinois; Immunohistochemistry; Intermediate Filaments; Male; Melanoma; Middle Aged; Neoplasm Recurrence, Local; Neurofibroma; New York City; Phenotype; Predictive Value of Tests; Skin Neoplasms; Time Factors; Treatment Outcome; Tumor Suppressor Protein p53
PubMed: 32732692
DOI: 10.1097/DAD.0000000000001754 -
Melanoma Management Sep 2021
PubMed: 34900219
DOI: 10.2217/mmt-2020-0013 -
International Journal of Surgical... Sep 2023. Tumour budding and desmoplastic reactions in peritumoural stroma are features of the tumour microenvironment that are associated with colorectal cancer prognosis but...
. Tumour budding and desmoplastic reactions in peritumoural stroma are features of the tumour microenvironment that are associated with colorectal cancer prognosis but have not been as thoroughly examined in gastric cancer. We aimed to further characterize the prognostic role of tumour budding and desmoplastic reaction in gastric adenocarcinoma with intestinal differentiation. . 76 curative gastrectomy specimens were identified, excluding post-neoadjuvant cases or cases with >50% diffuse-type histology. Tumour budding was defined and graded according to the International Tumor Budding Consensus Conference recommendations and desmoplastic reaction was classified as described by Ueno et al 2017. Tumour budding and desmoplastic reaction were analyzed for associations with pathologic features and clinical outcomes. . Tumour budding was associated with pT ( < .001), pN ( < .004), overall stage ( < .001), LVI ( < .001) and PNI ( = .002). Desmoplastic reaction was associated with pT ( < .001), pN ( = .005), overall stage ( = .031) and PNI ( < .001), but not LVI. Survival analysis showed decreased overall survival (OS) and recurrence-free survival (RFS) for intermediate and high grade tumour budding ( = .031, .014 respectively). Immature stroma was significantly associated with RFS but not OS. Neither tumour budding nor desmoplastic reaction were independent predictors of OS or RFS on multivariate analysis in this cohort. . Tumour budding and desmoplastic reaction were associated with known pathologic risk factors. Prognostically, tumour budding was associated with OS and RFS while desmoplastic reaction was associated with RFS only. Our data suggest that tumour budding and desmoplastic reaction have prognostic value in intestinal-type gastric adenocarcinoma.
Topics: Humans; Prognosis; Stomach Neoplasms; Neoplasm Staging; Adenocarcinoma; Survival Analysis; Retrospective Studies; Tumor Microenvironment
PubMed: 35726174
DOI: 10.1177/10668969221105617 -
Clinical Gastroenterology and... Nov 2009Pancreatic ductal adenocarcinoma (PDAC) is the most common form of pancreatic cancer and is characterized by remarkable desmoplasia. The desmoplasia is composed of... (Review)
Review
Pancreatic ductal adenocarcinoma (PDAC) is the most common form of pancreatic cancer and is characterized by remarkable desmoplasia. The desmoplasia is composed of extracellular matrix (ECM) proteins, myofibroblastic pancreatic stellate cells, and immune cells associated with a multitude of cytokines, growth factors, and ECM metabolizing enzymes. The mechanisms of participation of this complex matrix process in carcinogenesis are only starting to be appreciated. Recent studies showed key roles for stellate cells in the production of ECM proteins as well as cytokines and growth factors that promote the growth of the cancer cells all present in the desmoplastic parts of PDAC. In addition, interactions of ECM proteins and desmoplastic secreted growth factors with the cancer cells of PDAC activate intracellular signals including reactive oxygen species that act to make the cancer cells resistant to dying. These findings suggest that the desmoplasia of PDAC is a key factor in regulating carcinogenesis of PDAC as well as responses to therapies. A better understanding of the biology of desmoplasia in the mechanism of PDAC will likely provide significant opportunities for better treatments for this devastating cancer.
Topics: Adenocarcinoma; Carcinoma, Pancreatic Ductal; Fibroma, Desmoplastic; Humans; Inflammation Mediators; Models, Biological; Signal Transduction
PubMed: 19896098
DOI: 10.1016/j.cgh.2009.07.039 -
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 -
Head and Neck Pathology Mar 2023Desmoplastic melanoma is a rare subtype of melanoma mainly appearing on sun-exposed skin. Clinically, it is many times non-pigmented and therefore the diagnosis is often... (Review)
Review
BACKGROUND
Desmoplastic melanoma is a rare subtype of melanoma mainly appearing on sun-exposed skin. Clinically, it is many times non-pigmented and therefore the diagnosis is often not suspected.
METHODS
Review article.
RESULTS
In this paper we review the main histopathological, immunohistochemical, and molecular features of desmoplastic melanoma, as well as the top 10 morphologic differential diagnoses which should be considered in most cases. The histopathological pattern can be many times deceptive, mimicking a scar, a fibrous reaction, a fibrohistiocytic tumor such as a dermatofibroma, a vascular tumor such as angiosarcoma, a smooth muscle tumor such as leiomyosarcoma, or a neural tumor. Although an overlying atypical junctional melanocytic proliferation may be seen in most cases, it is absent in a significant percentage (up to 30%) of cases, making the diagnosis even more difficult in those instances. The range of diagnostic pitfalls is wide, which may present disastrous prognostic consequences.
CONCLUSION
Desmoplastic melanoma is often a difficult diagnosis to make, as it frequently shows nonspecific clinical findings and overlapping histologic features with many other tumors. However, the potential clinical and prognostic consequences of misdiagnosis as another entity are great. Therefore, this diagnosis must always be kept in mind when encountering spindle cell tumors affecting the head and neck area.
Topics: Humans; Diagnosis, Differential; Skin Neoplasms; Melanoma; Prognosis; Biomarkers, Tumor
PubMed: 36928737
DOI: 10.1007/s12105-023-01536-y -
Cureus Oct 2022Primary desmoplastic small round cell tumor (DSRCT) in the head and neck region is extremely rare. There is limited information about its clinicopathological... (Review)
Review
Primary desmoplastic small round cell tumor (DSRCT) in the head and neck region is extremely rare. There is limited information about its clinicopathological characteristics, prognosis, and treatment modalities. The purpose of this study is to provide a comprehensive review of DSRCT occurring primarily in the head and neck, to demonstrate its peculiar morphology and immunohistochemical expression, and to address the differential diagnoses. A total of 25 cases were collected after a thorough review of the relevant literature. DSRCT was most frequently reported in the major salivary glands, followed by the eyes. Furthermore, some cases were misinterpreted as poorly differentiated carcinoma, Ewing sarcoma, and olfactory neuroblastoma. Diagnosing DSRCTs in the head and neck can be very challenging due to their rarity in this location, overlapping morphology, and immunohistochemistry. In these cases, following a systemic approach helps to solve diagnostic problems.
PubMed: 36415387
DOI: 10.7759/cureus.30475 -
World Journal of Surgical Oncology Jun 2021Desmoplastic small round cell tumor (DSRCT) is a highly malignant sarcoma that occurs in the abdominopelvic cavities of adolescents. The accurate diagnosis of DSRCT is... (Review)
Review
BACKGROUND AND PURPOSE
Desmoplastic small round cell tumor (DSRCT) is a highly malignant sarcoma that occurs in the abdominopelvic cavities of adolescents. The accurate diagnosis of DSRCT is challenging owing to limited literatures. Our study aimed to investigate the relationship between clinicopathological features and prognosis in patients with DSRCTs.
METHODS
Data of 8 patients with DSRCT originating from the abdominal cavity were retrospectively reviewed. The clinical manifestations, pathological characteristics, treatment approaches, and prognosis were analyzed. The histopathological (identified using hematoxylin-eosin staining), immunohistochemical, and molecular diagnostic (using fluorescence in situ hybridization) features were also reviewed.
RESULTS
All patients were male aged between 24 and 45 years (median age, 30 years). The main clinical symptoms included abdominal distension, abdominal pain, and constipation. Seven of the 8 patients developed metastases to either distant organs or lymph nodes. Multiple gray nodules with diameters of 1-10 cm and poorly defined boundaries were scattered throughout the omentum and mesentery. Histopathological examination demonstrated well-defined nests composed of small round blue cells separated by markedly desmoplastic stroma. Immunohistochemical analysis revealed positive expressions of desmin, vimentin and C-terminal of Wilm's tumor suppressor (WT-1). The Ewing sarcoma breakpoint region 1 gene fused with WT1 (EWSR1-WT1) gene fusion was detected in all patients. Cytoreductive surgery (CRS) was performed in 6 patients. Follow-up period ranged from 7.5 to 28.5 months with a median of 17.2 months. Three patients died during follow-up.
CONCLUSION
DSRCT is highly aggressive and presents distinctive morphological features. CRS is the essential therapy for DSRCT. A test for the combined expression of desmin, cytokeratins, and C-terminal of WT-1, as well as the analysis of morphologic features, might be helpful during DSRCT diagnosis, and the EWSR1-WT1 gene fusion is the gold standard for definitive diagnosis. Our work will provide new insights into the diagnosis and treatment of DSRCTs.
Topics: Adolescent; Adult; Desmoplastic Small Round Cell Tumor; Humans; In Situ Hybridization, Fluorescence; Kidney Neoplasms; Male; Middle Aged; Oncogene Proteins, Fusion; Prognosis; Retrospective Studies; Young Adult
PubMed: 34193155
DOI: 10.1186/s12957-021-02310-6 -
Oncology Letters Jun 2019Desmoplastic melanoma (DM) is a rare morphological subtype of melanoma that remains uncharacterized. The aim of the present study was to investigate the incidence of DM,...
Desmoplastic melanoma (DM) is a rare morphological subtype of melanoma that remains uncharacterized. The aim of the present study was to investigate the incidence of DM, its general demographics, clinicopathological features and disease-specific prognostic factors. DM cases were sampled from the Surveillance, Epidemiology and End Results (SEER) program from between 1973 and 2017. A total of 3,657 cases (median age, 68 years) were identified. The results indicated that DM primarily occurred in Caucasian subjects, with a male-to-female ratio of 2:1. Statistically significant overall survival (OS) and disease-specific survival (DSS) rate differences were identified according to sex, age, treatment, T stage, N stage and SEER historic tumor stage (P<0.05). In multivariate Cox regression analysis, age >68 years, male sex, American Joint Committee on Cancer (AJCC) stage II and III, and SEER historic tumor stage of the regional tumor were all factors associated with poorer OS and DSS rates. The findings also revealed that surgical treatment was associated with favorable DSS and OS rates. In conclusion, DM occurred primarily in Caucasian subjects of 60-80 years of age, with predominance in males. Furthermore, age, sex, AJCC stage, SEER historic tumor stage and surgical treatment were identified as independent prognostic factors of DM in terms of DSS and OS.
PubMed: 31186784
DOI: 10.3892/ol.2019.10259