-
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 -
The New Zealand Medical Journal Jun 2024There are no data on the performance of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the staging and diagnosis of lung cancer in New...
AIM
There are no data on the performance of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the staging and diagnosis of lung cancer in New Zealand. We aimed to assess the performance of EBUS-TBNA for lung cancer staging and diagnosis at our institution before and after the commencement of regular performance monitoring with comparison to published EBUS quality indicators.
METHODS
The performance of EBUS-TBNA in the staging and diagnosis of lung cancer was assessed in two phases. Phase 1 consisted of a retrospective review of all lung cancer EBUS performed over a 2-year period. Published quality indicators were determined from the literature with relevant indicators being extracted and used to determine EBUS performance. Local reporting and education were undertaken and prospective data collection was commenced. Phase 2 consisted of prospective assessment of all lung cancer EBUS over the subsequent year. Performance of EBUS was then compared between phases 1 and 2 in order to determine the effect of performance monitoring and identify areas for service improvement.
RESULTS
A total of 115 staging EBUS and 117 diagnostic EBUS were performed during the study period. Staging EBUS demonstrated good performance across phases 1 and 2 with high sensitivity and negative predictive values (NPV) for the detection of N2/3 disease, meeting published quality standards. During phase 2 there was evidence of a transition towards more guideline-concordant practice evidenced by more detailed nodal sampling during staging EBUS; however, this did not affect overall sensitivity or NPV. Diagnostic EBUS resulted in high rates of pathological confirmation meeting published quality standards across both phases. Pathway times were similar between phases 1 and 2, with reporting of molecular profiling being the predominant factor in delayed pathway times.
CONCLUSION
Monitoring and reporting of local performance allows critical assessment of practice and can identify areas for quality improvement. This review demonstrated good overall performance but prompted a move towards more guideline-concordant practice with increased mediastinal nodal sampling during staging procedures. Consideration should be given to the adoption of routine EBUS performance monitoring within local and/or regional networks, which could be incorporated alongside the newly proposed Lung Cancer Clinical Quality Registry.
Topics: Humans; Lung Neoplasms; Neoplasm Staging; New Zealand; Quality Indicators, Health Care; Male; Female; Retrospective Studies; Aged; Middle Aged; Endoscopic Ultrasound-Guided Fine Needle Aspiration; Prospective Studies; Bronchoscopy; Aged, 80 and over; Endosonography; Adult
PubMed: 38901049
DOI: 10.26635/6965.6452 -
International Journal of Surgical... Jun 2024. SMARCA4-deficient undifferentiated tumors are rare and pose a diagnostic challenge. This study delves into the intricate diagnostic terrain of SMARCA4-deficient...
Delayed Diagnosis of SMARCA4-Deficient Undifferentiated Tumor in a Heavy Smoker Male Patient: Discovered Through Bone Sampling, with Extensive Distant Metastases and Concurrent Granulomatous Disease, Leading to Patient Fatality.
. SMARCA4-deficient undifferentiated tumors are rare and pose a diagnostic challenge. This study delves into the intricate diagnostic terrain of SMARCA4-deficient undifferentiated tumors, providing insights into their diverse clinical presentations and diagnostic approaches. . A 69-year-old heavy-smoker man with adalimumab-treated rheumatoid arthritis presented with multiple lesions. A CT scan revealed a spiculated lung mass, enlarged mediastinal lymph nodes, and hepatic lesions. A whole-body FDG-PET/CT scan revealed heterogeneous hypermetabolic lesions in the lung, liver, and bone. Initial two core needle liver biopsies and a left upper lobe lung wedge resection initially indicated steatohepatitis and granulomatous formation with no evidence of malignancy. Several months later, the patient returned with left-sided flank pain and significant weight loss. CT scan identified a thigh mass, adrenal lesion, and extensive multiple skeletal lesions. A biopsy of the thigh mass revealed an extensively necrotic, epithelioid-to-spindled cell neoplasm with positive staining for pan keratin, focal staining for CD56, and a loss of nuclear expression of SMARCA4. A final diagnosis of SMARCA4-deficient undifferentiated tumor was rendered. Unfortunately, the patient's condition deteriorated, and he died a few weeks after receiving the final diagnosis. SMARCA4-deficient undifferentiated tumors have emerged as recent subjects of medical study, distinguished by their unique morphology and SMARCA4-deficient immunohistochemistry. These tumors present diverse clinical manifestations, affecting multiple organ systems. This report underscores the diagnostic complexities associated with complex clinical presentation and highlights the importance of multidisciplinary collaboration in addressing challenging clinical scenarios, particularly among heavy smoker male patients and intricate radiological presentations.
PubMed: 38899907
DOI: 10.1177/10668969241260215 -
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 -
The Annals of Otology, Rhinology, and... Jun 2024Ultrasound (US)-guided procedures can be used in the evaluation and treatment of neck masses. However, these procedures need to be practiced before being executed on...
OBJECTIVES
Ultrasound (US)-guided procedures can be used in the evaluation and treatment of neck masses. However, these procedures need to be practiced before being executed on humans. The aim of this study is to evaluate the efficacy of a training program using a gelatin phantom to practice US-guided procedures.
METHODS
This program included a lecture and practice with a gelatin phantom. We recruited doctors from different hospitals to practice US-guided procedures, including fine-needle aspiration (FNA), core needle biopsy (CNB), percutaneous ethanol injection (PEI), and radiofrequency ablation (RFA). We used a questionnaire with a 5-point scale to evaluate the effectiveness of practicing US-guided procedures under a gelatin phantom.
RESULTS
Forty-four doctors participated, and 37 of them completed the questionnaires. After training, the mean (SD) scores of the doctors were 4.68 (0.47) for "Satisfaction with this course," 4.54 (0.61) for "Ease in practicing FNA&CNB using the phantom," 4.49 (0.61) for "Ease in practicing PEI using the phantom," 4.49 (0.65) for "Ease in practicing RFA using the phantom," and 4.57 (0.55) for "The course effectively familiarizing participants with US-guided procedures." Participants without experience in US examination had higher scores than those with previous US experience, but the difference was not statistically significant.
CONCLUSION
A combination of lectures and hands-on practice of US-guided procedures using a gelatin phantom is an effective educational method for doctors interested in head and neck US. After the training program, doctors gained a better understanding of the necessary steps and skills required for these procedures. They can correctly insert the instruments into the target lesion and perform different US-guided procedures.
PubMed: 38898810
DOI: 10.1177/00034894241262113