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Medicine Apr 2024Desmoplastic small round cell tumor (DSRCT) is a rare and rapidly metastasizing soft tissue sarcoma, distinguished by its unique cell morphology and pleomorphic... (Review)
Review
RATIONALE
Desmoplastic small round cell tumor (DSRCT) is a rare and rapidly metastasizing soft tissue sarcoma, distinguished by its unique cell morphology and pleomorphic differentiation.
PATIENT CONCERNS
This report describes the case of an 18-year-old male diagnosed with abdominopelvic DSRCT exhibiting metastases to the peritoneum, liver, pleura, bone, and muscle. The patient primarily presented with symptoms of incomplete intestinal obstruction and an abdominal mass.
DIAGNOSES
Colonoscopy revealed lumen stenosis caused by external compression mass. Contrast-enhanced computed tomography and 18F-fluorodeoxyglucose positron emission tomography/computed tomography revealed multiple lesions in the abdominopelvic cavity. A needle biopsy of an abdominal wall lesion established it as a malignant tumor, origin unknown. Immunohistochemical staining post-surgery showed positive results for Cytokeratin (CK), CK7, Desmin, Vimentin, Caudal type homeobox 2 (CDX2), and Ki-67. Fluorescence in situ hybridization analysis revealed an Ewing sarcoma breakpoint region 1/EWS RNA binding protein 1 (EWSR1) rearrangement, and next-generation sequencing identified an EWSR1-Wilms tumor protein 1 (WT1) gene fusion.
INTERVENTIONS
The patient underwent laparoscopic exploratory surgery, which encompassed biopsy, ascites drainage, adhesion lysis, reinforcement of weakened sections of the small intestinal walls, and repositioning of twisted intestines. Postoperatively, the treatment protocol included fasting, rehydration, gastrointestinal decompression, and parenteral nutrition. However, the patient did not received chemotherapy.
OUTCOMES
The patient declined further treatment and deceased in early November.
LESSONS
This case highlights the nonspecific nature of DSRCT symptoms. In clinical practice, it is crucial to meticulously evaluate unexplained intestinal obstruction in young patients, considering DSRCT as a differential diagnosis to avoid delays in diagnosis.
Topics: Male; Humans; Adolescent; Desmoplastic Small Round Cell Tumor; In Situ Hybridization, Fluorescence; Soft Tissue Neoplasms; Intestinal Obstruction; Oncogene Proteins, Fusion
PubMed: 38579065
DOI: 10.1097/MD.0000000000037664 -
Communications Biology Apr 2024Desmoplastic Small Round Cell Tumor (DSRCT) is a rare, pediatric cancer caused by the EWSR1::WT1 fusion protein. DSRCT predominantly occurs in males, which comprise...
Desmoplastic Small Round Cell Tumor (DSRCT) is a rare, pediatric cancer caused by the EWSR1::WT1 fusion protein. DSRCT predominantly occurs in males, which comprise 80-90% of the patient population. While the reason for this male predominance remains unknown, one hypothesis is that the androgen receptor (AR) plays a critical role in DSRCT and elevated testosterone levels in males help drive tumor growth. Here, we demonstrate that AR is highly expressed in DSRCT relative to other fusion-driven sarcomas and that the AR antagonists enzalutamide and flutamide reduce DSRCT growth. However, despite these findings, which suggest an important role for AR in DSRCT, we show that DSRCT cell lines form xenografts in female mice at the same rate as male mice and AR depletion does not significantly alter DSRCT growth in vitro. Further, we find that AR antagonists reduce DSRCT growth in cells depleted of AR, establishing an AR-independent mechanism of action. These findings suggest that AR dependence is not the reason for male predominance in DSRCT and that AR-targeted therapies may provide therapeutic benefit primarily through an AR-independent mechanism that requires further elucidation.
Topics: Child; Humans; Male; Female; Animals; Mice; Desmoplastic Small Round Cell Tumor; Receptors, Androgen; Benzamides; Nitriles; Phenylthiohydantoin
PubMed: 38575753
DOI: 10.1038/s42003-024-06003-0 -
Cureus Mar 2024Desmoplastic small round cell tumors (DSRCTs) are highly malignant tumors, with distinct reciprocal chromosome translocation (11;22)(p13;q12). Intracranial metastasis is...
Desmoplastic small round cell tumors (DSRCTs) are highly malignant tumors, with distinct reciprocal chromosome translocation (11;22)(p13;q12). Intracranial metastasis is a very rare complication of this tumor, with only a few cases reported in the literature. To our knowledge, this is the only case presenting an extracranial extension of intracranial metastasis of DSRCT. A 33-year-old man was diagnosed with DSRCT in the pelvic cavity. He presented with a scalp lump and right-sided weakness. A biopsy showed metastasis from DSRCT. Metastatic DSRCT to the brain is extremely rare. Surgical resection followed by adjuvant treatment, including chemotherapy and radiation, is indicated as it has a poor prognosis. Moreover, aggressive treatment is warranted to prevent progression and relapse.
PubMed: 38571871
DOI: 10.7759/cureus.55494 -
Indian Journal of Otolaryngology and... Apr 2024
Comment on "'Collision Tumour' Involving Desmoplastic Ameloblastoma and Squamous Odontogenic Tumour: Diagnostic Precision and Implications" - A Need for Reevaluation of Histopathological Findings.
PubMed: 38566722
DOI: 10.1007/s12070-023-04422-9 -
Clinical Case Reports Apr 2024Desmoplastic fibroma presents similar to other soft tissue tumors to such an extent that even a gold standard investigation can miss.
KEY CLINICAL MESSAGE
Desmoplastic fibroma presents similar to other soft tissue tumors to such an extent that even a gold standard investigation can miss.
ABSTRACT
This is to report a mass in a 47-year-old male arising from the chest wall, which was first thought to be a hemangioma but was later diagnosed as a case of desmoplastic fibroblastoma with the help of a biopsy.
PubMed: 38562578
DOI: 10.1002/ccr3.7523 -
Clinical & Experimental Metastasis Mar 2024Metastatic breast cancer (mBC) remains incurable and liver metastases (LM) are observed in approximately 50% of all patients with mBC. In some cases, surgical resection...
Metastatic breast cancer (mBC) remains incurable and liver metastases (LM) are observed in approximately 50% of all patients with mBC. In some cases, surgical resection of breast cancer liver metastases (BCLM) is associated with prolonged survival. However, there are currently no validated marker to identify these patients. The interactions between the metastatic cancer cells and the liver microenvironment result in two main histopathological growth patterns (HGP): replacement (r-HGP), characterized by a direct contact between the cancer cells and the hepatocytes, and desmoplastic (d-HGP), in which a fibrous rim surrounds the tumor cells. In patients who underwent resection of BCLM, the r-HGP is associated with a worse postoperative prognosis than the d-HGP. Here, we aim at unraveling the biological differences between these HGP within ten patients presenting both HGP within the same metastasis. The transcriptomic analyses reveal overexpression of genes involved in cell cycle, DNA repair, vessel co-option and cell motility in r-HGP while angiogenesis, wound healing, and several immune processes were found overexpressed in d-HGP LM. Understanding the biology of the LM could open avenues to refine treatment of BC patients with LM.
PubMed: 38548918
DOI: 10.1007/s10585-024-10279-1 -
Biomedicines Mar 2024Pancreatic ductal adenocarcinoma (PDAC) represents a formidable challenge due to its aggressive nature and poor prognosis. The tumor microenvironment (TME) in PDAC,... (Review)
Review
Pancreatic ductal adenocarcinoma (PDAC) represents a formidable challenge due to its aggressive nature and poor prognosis. The tumor microenvironment (TME) in PDAC, characterized by intense stromal desmoplastic reactions and a dominant presence of cancer-associated fibroblasts (CAFs), significantly contributes to therapeutic resistance. However, within the heterogeneous CAF population, fibroblast activation protein (FAP) emerges as a promising target for Gallium-68 FAP inhibitor positron emission tomography (Ga68FAPI-PET) imaging. Notably, 68Ga-FAPI-PET demonstrates promising diagnostic sensitivity and specificity, especially in conjunction with low tracer uptake in non-tumoral tissues. Moreover, it provides valuable insights into tumor-stroma interactions, a critical aspect of PDAC tumorigenesis not adequately visualized through conventional methods. The clinical implications of this innovative imaging modality extend to its potential to reshape treatment strategies by offering a deeper understanding of the dynamic TME. However, while the potential of 68Ga-FAPI-PET is evident, ongoing correlative studies are essential to elucidate the full spectrum of CAF heterogeneity and to validate its impact on PDAC management. This article provides a comprehensive review of CAF heterogeneity in PDAC and explores the potential impact of 68Ga-FAPI-PET on disease management.
PubMed: 38540204
DOI: 10.3390/biomedicines12030591 -
Computers in Biology and Medicine May 2024Most of the methods using digital pathological image for predicting Hepatocellular carcinoma (HCC) prognosis have not considered paracancerous tissue microenvironment...
BACKGROUND
Most of the methods using digital pathological image for predicting Hepatocellular carcinoma (HCC) prognosis have not considered paracancerous tissue microenvironment (PTME), which are potentially important for tumour initiation and metastasis. This study aimed to identify roles of image features of PTME in predicting prognosis and tumour recurrence of HCC patients.
METHODS
We collected whole slide images (WSIs) of 146 HCC patients from Sun Yat-sen Memorial Hospital (SYSM dataset). For each WSI, five types of regions of interests (ROIs) in PTME and tumours were manually annotated. These ROIs were used to construct a Lasso Cox survival model for predicting the prognosis of HCC patients. To make the model broadly useful, we established a deep learning method to automatically segment WSIs, and further used it to construct a prognosis prediction model. This model was tested by the samples of 225 HCC patients from the Cancer Genome Atlas Liver Hepatocellular Carcinoma (TCGA-LIHC).
RESULTS
In predicting prognosis of the HCC patients, using the image features of manually annotated ROIs in PTME achieved C-index 0.668 in the SYSM testing dataset, which is higher than the C-index 0.648 reached by the model only using image features of tumours. Integrating ROIs of PTME and tumours achieved C-index 0.693 in the SYSM testing dataset. The model using automatically segmented ROIs of PTME and tumours achieved C-index of 0.665 (95% CI: 0.556-0.774) in the TCGA-LIHC samples, which is better than the widely used methods, WSISA (0.567), DeepGraphSurv (0.593), and SeTranSurv (0.642). Finally, we found the Texture SumAverage Skew HV on immune cell infiltration and Texture related features on desmoplastic reaction are the most important features of PTME in predicting HCC prognosis. We additionally used the model in prediction HCC recurrence for patients from SYSM-training, SYSM-testing, and TCGA-LIHC datasets, indicating the important roles of PTME in the prediction.
CONCLUSIONS
Our results indicate image features of PTME is critical for improving the prognosis prediction of HCC. Moreover, the image features related with immune cell infiltration and desmoplastic reaction of PTME are the most important factors associated with prognosis of HCC.
Topics: Humans; Carcinoma, Hepatocellular; Liver Neoplasms; Hospitals; Tumor Microenvironment
PubMed: 38537563
DOI: 10.1016/j.compbiomed.2024.108365 -
Journal of Pediatric Endocrinology &... May 2024Inactivating mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's...
OBJECTIVES
Inactivating mutations result in varied phenotypes depending on parental origin. Maternally inherited mutations typically lead to hormone resistance and Albright's hereditary osteodystrophy (AHO), characterised by short stature, round facies, brachydactyly and subcutaneous ossifications. Paternal inheritance presents with features of AHO or ectopic ossification without hormone resistance. This report describes the case of a child with osteoma cutis and medulloblastoma. The objective of this report is to highlight the emerging association between inactivating germline mutations and medulloblastoma, aiming to shed light on its implications for tumor biology and promote future development of targeted surveillance strategies to improve outcomes in paediatric patients with these mutations.
CASE PRESENTATION
A 12-month-old boy presented with multiple plaque-like skin lesions. Biopsy confirmed osteoma cutis, prompting genetic testing which confirmed a heterozygous inactivating mutation. At 2.5 years of age, he developed neurological symptoms and was diagnosed with a desmoplastic nodular medulloblastoma, SHH molecular group, confirmed by MRI and histology. Further analysis indicated a biallelic loss of in the tumor.
CONCLUSIONS
This case provides important insights into the role of as a tumor suppressor and the emerging association between inactivating variants and the development of medulloblastoma. The case underscores the importance of careful neurological assessment and ongoing vigilance in children with known inactivating variants or associated phenotypes. Further work to establish genotype-phenotype correlations is needed to inform optimal management of these patients.
Topics: Humans; GTP-Binding Protein alpha Subunits, Gs; Male; Chromogranins; Medulloblastoma; Ossification, Heterotopic; Skin Diseases, Genetic; Infant; Cerebellar Neoplasms; Prognosis; Bone Diseases, Metabolic; Mutation
PubMed: 38529810
DOI: 10.1515/jpem-2023-0533 -
Brain Pathology (Zurich, Switzerland) May 2024
Topics: Female; Humans; Pineal Gland; Pinealoma; Brain Neoplasms
PubMed: 38527786
DOI: 10.1111/bpa.13258