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Medicina 2024Ewing sarcoma (ES) and primitive neuroectodermal tumor (PNET) belong to the group of neoplasms called small round cell tumors. PNETs have been divided into central and...
Ewing sarcoma (ES) and primitive neuroectodermal tumor (PNET) belong to the group of neoplasms called small round cell tumors. PNETs have been divided into central and peripheral. ES and peripheral PNETs arise from bones, soft tissues, or peripheral nerves. We present a case of hepatic ES/PNET in a healthy man that began four months before consultation with abdominal symptoms and weight loss. Upper gastrointestinal endoscopy and laboratory tests revealed no notable findings. The abdominal tomography revealed an enlarged liver due to a solid lesion that involved all its segments with intravenous contrast enhancement and large areas of necrosis. It compressed and displaced neighboring structures. Core needle biopsy of the liver lesion was performed: small round cell neoplasm. Immunohistochemistry revealed negativity for CD45, CKA1/A3, chromogranin, synaptophysin, and cytokeratins CK7 and CK20. Dim CD56 expression and CD99, FLI-1, and NKX2 positivity. He underwent chemotherapy treatment with carboplatin and etoposide for 6 cycles with clinical improvement and tolerance. Control images showed reduction of the mass with involvement of the right hepatic lobe, involvement of the inferior vena cava, infiltration of the right adrenal gland and upper pole of the right kidney. He was referred to hepatobiliary surgery for surgical resection of the residual lesion. The patient rejected the proposed surgical procedure. Our objective is to highlight the clinical and histological diagnostic challenge of this entity that requires ruling out other clinical entities.
Topics: Humans; Male; Liver Neoplasms; Sarcoma, Ewing; Tomography, X-Ray Computed; Immunohistochemistry; Adult; Neuroectodermal Tumors, Primitive, Peripheral
PubMed: 38907976
DOI: No ID Found -
Frontiers in Endocrinology 2024Thyroid cancer rarely occurs in children and adolescents. Molecular markers such as , , and have been widely used in adult PTC. It is currently unclear whether these...
OBJECTIVES
Thyroid cancer rarely occurs in children and adolescents. Molecular markers such as , , and have been widely used in adult PTC. It is currently unclear whether these molecular markers have equivalent potential for application in pediatric patients. This study aims to explore the potential utility of a multi-gene conjoint analysis based on next-generation targeted sequencing for pediatric papillary thyroid carcinoma (PTC).
MATERIALS AND METHODS
The patients diagnosed with PTC (aged 18 years or younger) in the pediatrics department of Lishui District Hospital of Traditional Chinese Medicine were retrospectively screened. A targeted enrichment and sequencing analysis of 116 genes associated with thyroid cancer was performed on paraffin-embedded tumor tissues and paired paracancerous tissue of fifteen children (average age 14.60) and nine adults (average age 49.33) PTC patients. Demographic information, clinical indicators, ultrasonic imaging information and pathological data were collected. The Kendall correlation test was used to establish a correlation between molecular variations and clinical characteristics in pediatric patients.
RESULTS
A sample of 15 pediatric PTCs revealed a detection rate of 73.33% (11/15) for driver gene mutations and fusion. Compared to adult PTCs, the genetic mutation landscape of pediatric PTCs was more complex. Six mutant genes overlap between the two groups, and an additional seventeen unique mutant genes were identified only in pediatric PTCs. There was only one unique mutant gene in adult PTCs. The tumor diameter of pediatric PTCs tended to be less than 4cm (p<0.001), and the number of lymph node metastases was more than five (p<0.001). Mutations in specific genes unique to pediatric PTCs may contribute to the onset and progression of the disease by adversely affecting hormone synthesis, secretion, and action mechanisms, as well as the functioning of thyroid hormone signaling pathways. But, additional experiments are required to validate this hypothesis.
CONCLUSION
mutation and fusion are involved in the occurrence and development of adolescent PTC. For pediatric thyroid nodules that cannot be determined as benign or malignant by fine needle aspiration biopsy, multiple gene combination testing can provide a reference for personalized diagnosis and treatment by clinical physicians.
Topics: Humans; Female; Adolescent; Thyroid Cancer, Papillary; Male; Child; Thyroid Neoplasms; Mutation; Retrospective Studies; Proto-Oncogene Proteins B-raf; Adult; Middle Aged; Biomarkers, Tumor; Proto-Oncogene Proteins c-ret; High-Throughput Nucleotide Sequencing; DNA Mutational Analysis
PubMed: 38904052
DOI: 10.3389/fendo.2024.1405142 -
Frontiers in Oncology 2024Fluorescence hybridization (FISH) is an essential ancillary study used to identify clinically aggressive subsets of large B-cell lymphomas that have , or...
INTRODUCTION
Fluorescence hybridization (FISH) is an essential ancillary study used to identify clinically aggressive subsets of large B-cell lymphomas that have , or rearrangements. Small-volume biopsies such as fine needle aspiration biopsy (FNAB) and core needle biopsy (CNB) are increasingly used to diagnose lymphoma and obtain material for ancillary studies such as FISH. However, the performance of FISH in small biopsies has not been thoroughly evaluated or compared to surgical biopsies.
METHODS
We describe the results of and FISH in a series of 222 biopsy specimens, including FNAB with cell blocks, CNBs, and surgical excisional or incisional biopsies from 208 unique patients aggregated from 6 academic medical centers. A subset of patients had FNAB followed by a surgical biopsy (either CNB or excisional biopsy) obtained from the same or contiguous anatomic site as part of the same clinical workup; FISH results were compared for these paired specimens.
RESULTS
FISH had a low hybridization failure rate of around 1% across all specimen types. FISH identified concurrent and rearrangements in 20 of 197 (10%) specimens and concurrent and rearrangements in 3 of 182 (1.6%) specimens. The paired FNAB and surgical biopsy specimens did not show any discrepancies for or FISH; of the 17 patients with 34 paired cytology and surgical specimens, only 2 of the 49 FISH probes compared (4% of all comparisons) showed any discrepancy and both were at the locus. One discrepancy was due to necrosis of the CNB specimen causing a false negative FISH result when compared to the FNAB cell block that demonstrated a rearrangement.
DISCUSSION
FISH showed a similar hybridization failure rate in all biopsy types. Ultimately, , or FISH showed 96% concordance when compared across paired cytology and surgical specimens, suggesting FNAB with cell block is equivalent to other biopsy alternatives for evaluation of DLBCL or HGBCL FISH testing.
PubMed: 38903717
DOI: 10.3389/fonc.2024.1408238 -
Frontiers in Oncology 2024This study analyzed the risk factors associated with positive surgical margins (PSM) and five-year survival after prostate cancer resection to construct a positive...
BACKGROUND
This study analyzed the risk factors associated with positive surgical margins (PSM) and five-year survival after prostate cancer resection to construct a positive margin prediction model.
METHODS
We retrospectively analyzed the clinical data of 148 patients treated with prostatectomy. The patients were divided into PSM group and Negative surgical margins (NSM) group. Several parameters were compared between the groups. All patients were followed up for 60 months. The risk factors for PSM and five-year survival were evaluated by univariate analysis, followed by multifactorial dichotomous logistic regression analysis. Finally, ROC curves were plotted for the risk factors to establish a predictive model for PSM after prostate cancer resection.
RESULTS
(1) Serum PSA, percentage of positive puncture stitches, clinical stage, surgical approach, Gleason score on puncture biopsy, and perineural invasion were significantly associated with the risk of PSM (P < 0.05). Serum PSA, perineural invasion, Gleason score on puncture biopsy, and percentage of positive puncture stitches were independent risk factors for PSM. (2) Total prostate-specific antigen (tPSA) by puncture, nutritional status, lymph node metastasis, bone metastasis, and seminal vesicle invasion may be risk factors for five-year survival. Lymph node metastasis and nutritional status were the main risk factors for the five-year survival of patients with prostate cancer. (3) After plotting the ROC curve, the area under the curve (AUC) [AUC: 0.776, 95%, confidence interval (CI): 0.725 to 0.854] was found to be a valid predictor of PSM; the AUC [AUC: 0.664, 95%, confidence interval (CI): 0.576 to 0.753] was also a valid predictor of five-year survival (P < 0.05). (4) The scoring system had a standard error of 0.02 and a cut-off value of 6. It predicted PSM after prostate cancer resection with moderate efficacy.
CONCLUSIONS
Serum PSA, perineural invasion, puncture biopsy Gleason score, and percentage of positive puncture stitches were independent risk factors for positive surgical margins (PSM). Also, lymph node metastasis and nutritional status were the main risk factors for the five-year survival of patients with prostate cancer. Overall, the prediction efficacy of this scoring system concerning the risk of PSM after prostate cancer resection was moderate.
PubMed: 38903708
DOI: 10.3389/fonc.2024.1360404 -
Cureus May 2024Background Accurate diagnosis of musculoskeletal tumors is essential for guiding appropriate treatment strategies. Percutaneous core needle biopsy (PCNB) is increasingly...
Background Accurate diagnosis of musculoskeletal tumors is essential for guiding appropriate treatment strategies. Percutaneous core needle biopsy (PCNB) is increasingly recognized as a valuable method for obtaining tissue samples for histopathological examination. This study aims to evaluate the diagnostic accuracy and clinical utility of PCNB in diagnosing musculoskeletal tumors. Methodology A total of 152 cases suspected of musculoskeletal tumors underwent PCNB at our tertiary care center between 2020 and 2023. Pre-biopsy evaluation included comprehensive clinical assessment and imaging studies. Core biopsies were performed under image guidance, with specimens sent for histopathological examination and culture sensitivity analysis. Diagnostic yield, accuracy, and performance metrics of PCNB were assessed. Results PCNB demonstrated a diagnostic yield of 93.4%. However, in cases where initial biopsies were inconclusive, repeat core biopsy or open biopsy provided the necessary diagnostic clarity. PCNB demonstrated a remarkable diagnostic accuracy of 97.9%, with a specificity and positive predictive value of 100%. There were no post-biopsy complications and no instances of local recurrence from the biopsy tract. Conclusions PCNB can be a reliable method for diagnosing musculoskeletal tumors, offering high diagnostic accuracy and minimal complications. The utilization of image guidance enhances precision and reduces the risk of complications. PCNB proves effective in diagnosing both primary tumors and bone infections, facilitating timely and appropriate treatment strategies in orthopedic oncology.
PubMed: 38903361
DOI: 10.7759/cureus.60757 -
Ugeskrift For Laeger Jun 2024Pseudomonas aeruginosa, a Gram-negative bacterium known to induce severe infections, is seldomly reported in scientific literature as a contributor of osteomyelitis. In...
Pseudomonas aeruginosa, a Gram-negative bacterium known to induce severe infections, is seldomly reported in scientific literature as a contributor of osteomyelitis. In this case report, a 71-year-old woman exhibited recurring infections and enduring forearm pain. A subsequent MRI revealed osteomyelitis in the distal ulna, linked to an arterial blood gas sample taken months earlier. Despite undergoing multiple extended courses of antibiotic treatment, the patient eventually underwent surgery on her left forearm. Biopsy cultures conclusively confirmed the presence of P. aeruginosa.
Topics: Humans; Female; Aged; Pseudomonas aeruginosa; Pseudomonas Infections; Osteomyelitis; Ulna; Anti-Bacterial Agents; Magnetic Resonance Imaging; Punctures
PubMed: 38903032
DOI: 10.61409/V01240062 -
International Journal of Surgery Case... Jul 2024Pseudoangiomatous stromal hyperplasia (PASH) is a rare breast stromal lesion that typically manifests clinically as a palpable unilateral, painless lump that is freely...
Innovative technique for managing extreme relapsing bilateral pseudoangiomatous stromal hyperplasia (PASH) in a young woman: A case report highlighting a novel intervention in reconstruction.
INTRODUCTION
Pseudoangiomatous stromal hyperplasia (PASH) is a rare breast stromal lesion that typically manifests clinically as a palpable unilateral, painless lump that is freely movable and has a rubbery or firm consistency. The diagnosis can be confirmed by a core needle biopsy (CNB) or surgical excision. Treatment options include medical treatment with hormonal management for asymptomatic patients or local excision and breast reduction in rare cases.
CASE PRESENTATION
We reported the case of a 24-year-old woman with a history of taking contraceptive pills for about a year. Examination revealed extremely enlarged, sore, and swollen breasts, particularly the right side, marking her third PASH relapse. The patient underwent a surgical skin-reducing mastectomy (SRM) using a novel technique with an immediate prepectoral implant covered by a dermal flap to reconstruct the breast shape due to the large PASH lesions and aiming for optimal cosmetic outcomes. The procedure was complication-free with no recurrence after 18 months of follow-up.
DISCUSSION
Mastectomy followed by immediate implantation offers benefits such as prompt restoration of breast shape with fewer surgeries.
CONCLUSION
This case report highlights the successful use of immediate implantation in reconstructing large recurrent benign breast diseases. The outcomes indicate that immediate implantation shows promise as a suitable choice for carefully selected patients managing large, relapsing bilateral benign breast diseases. However, due to common complications such as infection and implant loss, it is not generally recommended for benign lesions. The decision should be made on a case-by-case basis, considering the size, recurrence, and individual suitability.
PubMed: 38901382
DOI: 10.1016/j.ijscr.2024.109873 -
World Journal of Clinical Cases Jun 2024Giant cell tumor of bone is a locally aggressive and rarely metastasizing tumor, and also a potential malignant tumor that may develop into a primary malignant giant...
BACKGROUND
Giant cell tumor of bone is a locally aggressive and rarely metastasizing tumor, and also a potential malignant tumor that may develop into a primary malignant giant cell tumor.
AIM
To evaluate the role of multimodal imaging in the diagnosis of giant cell tumors of bone.
METHODS
The data of 32 patients with giant cell tumor of bone confirmed by core-needle biopsy or surgical pathology at our hospital between March 2018 and March 2023 were retrospectively selected. All the patients with giant cell tumors of the bone were examined by X-ray, computed tomography (CT) and magnetic resonance imaging (MRI), and 7 of them were examined by positron emission tomography (PET)-CT.
RESULTS
X-ray imaging can provide overall information on giant cell tumor lesions. CT and MRI can reveal the characteristics of the internal structure of the tumor as well as the adjacent relationships of the tumor, and these methods have unique advantages for diagnosing tumors and determining the scope of surgery. PET-CT can detect small lesions and is highly valuable for identifying benign and malignant tumors to aid in the early diagnosis of metastasis.
CONCLUSION
Multimodal imaging plays an important role in the diagnosis of giant cell tumor of bone and can provide a reference for the treatment of giant cell tumors.
PubMed: 38899310
DOI: 10.12998/wjcc.v12.i16.2722 -
Journal of Inflammation Research 2024Periductal mastitis (PDM) is a chronic inflammatory lesion of the breast with an unknown etiology, and it is difficult for clinicians to differentiate it from...
PURPOSE
Periductal mastitis (PDM) is a chronic inflammatory lesion of the breast with an unknown etiology, and it is difficult for clinicians to differentiate it from granulomatous lobular mastitis (GLM), although they have different treatment strategies and prognosis. This study aimed to investigate the differences in their clinicopathologic features to inform treatment strategies.
PATIENTS AND METHODS
Between 2011 and 2020, 121 patients diagnosed with PDM and 57 patients with GLM were retrospective analysis. Patient data were extracted on demographics, clinical presentation, pathologic characteristics, treatments and clinical response. Histopathological evaluations were performed on core needle biopsy specimens. Immunohistochemical stains using antibodies against CD3, CD4, CD8, CD20, and CD138 was performed to define immune cell infiltration.
RESULTS
PDM patients had a higher median age compared to GLM patients (38 vs 32, p<0.001). PDM was primarily located in the areolar area, while GLM predominantly affected the peripheral quadrant of the breast (56.20% vs 75.44%, p<0.001). Histopathologically, more ductal dilatation (90.08% vs 3.51%, p<0.001), ductal wall thickening (47.93% vs 1.75%, p<0.001), and ductal rupture (44.63% vs 5.26%, p<0.001) were observed in PDM. GLM presented with significantly more granuloma (94.74% vs 10.74%, p<0.001), microabscess (68.42% vs 28.93%, p<0.001), and lipid vacuole (40.35% vs 8.26%, p<0.001) formation than PDM. Immunohistochemical analysis revealed a significant presence of CD20+ B lymphocytes in PDM and a higher prevalence of CD8+ T lymphocytes in GLM, indicating differing immune responses. Treatment outcomes varied, with PDM patients responding well to surgery and anti-mycobacterial therapy, while GLM patients showed favorable responses to steroid therapy.
CONCLUSION
PDM is a specific entity with a similar clinical presentation but distinct histopathological features and immune profiles to GLM. Further research is needed to elucidate the pathogenesis and optimize therapeutic approaches for these breast inflammatory conditions.
PubMed: 38895142
DOI: 10.2147/JIR.S464585 -
International Journal of Molecular... May 2024Sports-related muscle injuries account for 10-55% of all injuries, which is a growing concern, especially given the aging world population. To evaluate the process of...
Sports-related muscle injuries account for 10-55% of all injuries, which is a growing concern, especially given the aging world population. To evaluate the process of skeletal muscle injury and compare it with muscle lesions observed in humans, we developed a novel in vivo model in sheep. In this model, muscle injury was induced by an ultrasound-guided transverse biopsy at the myotendinous junction of the medial gastrocnemius muscle. Twelve male sheep were examined at 3, 7, 14, and 28 days post-injury. Histological, immunofluorescence, and MRI analyses indicate that our sheep model could resemble key human clinicopathological features. Statistically significant differences ( < 0.05) were observed in collagen I, dMHC, α-SMA, and CD68 immunohistochemical detection when comparing injured and healthy muscles. The injured gastrocnemius muscle exhibited elevated levels of type I collagen, infiltration of CD68(+) macrophages, angiogenesis, and the emergence of newly regenerated dMHC(+) myofibers, which persisted for up to 4 weeks post-injury. Similarly, the progression of muscle injury in the sheep model was assessed using advanced clinical 3 T MRI and compared with MRI scans from human patients. The data indicate that the sheep muscle injury model presents features similar to those observed in human skeletal muscle injuries. This makes it a valuable large animal model for studying muscle injuries and developing novel therapeutic strategies.
Topics: Animals; Muscle, Skeletal; Sheep; Disease Models, Animal; Male; Magnetic Resonance Imaging; Antigens, CD; Antigens, Differentiation, Myelomonocytic; Humans; Collagen Type I; Minimally Invasive Surgical Procedures
PubMed: 38891800
DOI: 10.3390/ijms25115612