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Journal of Surgical Case Reports Jun 2024A 76-year-old woman was investigated for epigastric pain on a background of a laparoscopic distal pancreatectomy and splenectomy for pancreatic ductal adenocarcinoma...
A 76-year-old woman was investigated for epigastric pain on a background of a laparoscopic distal pancreatectomy and splenectomy for pancreatic ductal adenocarcinoma 4 years prior. Imaging revealed an isolated 32 mm fluorodeoxyglucose avid lesion contacting both the anterior abdominal wall and greater curvature of the stomach. Immunohistochemistry and fine needle biopsy confirmed a phenotype consistent with metastatic pancreatic adenocarcinoma. Laparoscopic excision of the mass and partial gastrectomy for clearance of margins was performed. Histopathology demonstrated a poorly differentiated pancreatic ductal adenocarcinoma, and the patient received adjuvant gemcitabine/capecitabine following an uncomplicated postoperative course. This article presents a rare case of isolated abdominal wall recurrence of pancreatic ductal adenocarcinoma, which was successfully treated with surgical resection and adjuvant chemotherapy.
PubMed: 38912432
DOI: 10.1093/jscr/rjae418 -
Open Life Sciences 2024Richter transformation (RT) represents the development of intrusive lymphoma in individuals previously or concurrently diagnosed with chronic lymphocytic leukemia (CLL)...
Richter transformation (RT) represents the development of intrusive lymphoma in individuals previously or concurrently diagnosed with chronic lymphocytic leukemia (CLL) and is characterized by lymph node enlargement. However, cases involving extra-nodal organ involvement as the first symptom are rare. There are no reports of RT with breast lesions as the first symptom. Nonspecific and atypical clinical manifestations represent key challenges in the accurate diagnosis and appropriate treatment of RT. This case report describes an elderly female patient who presented with breast lesions as the first RT symptom. The patient was admitted with a painless mass in the left breast. Examination revealed multiple lymphadenopathies and abnormally high white blood cell levels. The patient was diagnosed with CLL after hematological tests, assessments of bone marrow morphology, and tissue biopsy. Mammography and B-ultrasonography showed solid space-occupying lesions (BI-RADS category 5) in the left breast. Initially, the patient declined a breast biopsy and was therefore prescribed ibrupotinib treatment, which showed limited efficacy. A needle biopsy of the affected breast indicated the presence of diffuse large B-cell lymphoma. Based on auxiliary and pathological examinations and medical history, the final diagnosis was RT with breast involvement. Zanubrutinib with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone treatment provided initial control; however, the treatment strategy required adjustment because of the patient's fluctuating condition. The current status of the patient is marked as stable, showing an overall achievement of partial alleviation. The patient is in the process of receiving follow-up treatment. We also performed a comprehensive literature review on RT, with particular emphasis on its biological paradigm, prognosis implications, existing therapeutic approaches, and emerging directions in treatment modalities.
PubMed: 38911930
DOI: 10.1515/biol-2022-0889 -
DEN Open Apr 2025Endoscopic ultrasound-guided tissue acquisition (EUS-TA), including fine-needle aspiration (EUS-FNA) and fine-needle biopsy (EUS-FNB), has revolutionized specimen... (Review)
Review
Endoscopic ultrasound-guided tissue acquisition (EUS-TA), including fine-needle aspiration (EUS-FNA) and fine-needle biopsy (EUS-FNB), has revolutionized specimen collection from intra-abdominal organs, especially the pancreas. Advances in personalized medicine and more precise treatment have increased demands to collect specimens with higher cell counts, while preserving tissue structure, leading to the development of EUS-FNB needles. EUS-FNB has generally replaced EUS-FNA as the procedure of choice for EUS-TA of pancreatic cancer. Various techniques have been tested for their ability to enhance the diagnostic performance of EUS-TA, including multiple methods of sampling at the time of puncture, on-site specimen evaluation, and specimen processing. In addition, advances in next-generation sequencing have made comprehensive genomic profiling of EUS-TA samples feasible in routine clinical practice. The present review describes updates in EUS-TA sampling techniques of pancreatic lesions, as well as methods for their evaluation.
PubMed: 38911353
DOI: 10.1002/deo2.399 -
Diagnostic Pathology Jun 2024Follicular lymphoma (FL) is characterized by t(14;18)(q32;q21) involving the IGH and BCL2 genes. However, 10-15% of FLs lack the BCL2 rearrangement. These...
BACKGROUND
Follicular lymphoma (FL) is characterized by t(14;18)(q32;q21) involving the IGH and BCL2 genes. However, 10-15% of FLs lack the BCL2 rearrangement. These BCL2-rearrangement-negative FLs are clinically, pathologically, and genetically heterogeneous. The biological behavior and histological transformation of such FLs are not adequately characterized. Here, we report the first case of t(14;18)-negative FL that rapidly progressed to plasmablastic lymphoma (PBL).
CASE PRESENTATION
A previously healthy 51-year-old man presented with leg swelling. Computed tomography (CT) showed enlarged lymph nodes (LNs) throughout the body, including both inguinal areas. Needle biopsy of an inguinal LN suggested low-grade B-cell non-Hodgkin lymphoma. Excisional biopsy of a neck LN showed proliferation of centrocytic and centroblastic cells with follicular and diffuse growth patterns. Immunohistochemical analysis showed that the cells were positive for CD20, BCL6, CD10, and CD23. BCL2 staining was negative in the follicles and weak to moderately positive in the interfollicular areas. BCL2 fluorescence in situ hybridization result was negative. Targeted next-generation sequencing (NGS) revealed mutations in the TNFRSF14, CREBBP, STAT6, BCL6, CD79B, CD79A, and KLHL6 genes, without evidence of BCL2 or BCL6 rearrangement. The pathologic and genetic features were consistent with t(14;18)-negative FL. Two months after one cycle of bendamustine and rituximab chemotherapy, the patient developed left flank pain. Positron emission tomography/CT showed new development of a large hypermetabolic mass in the retroperitoneum. Needle biopsy of the retroperitoneal mass demonstrated diffuse proliferation of large plasmablastic cells, which were negative for the B-cell markers, BCL2, BCL6, and CD10; they were positive for MUM-1, CD138, CD38, and C-MYC. The pathologic findings were consistent with PBL. The clonal relationship between the initial FL and subsequent PBL was analyzed via targeted NGS. The tumors shared the same CREBBP, STAT6, BCL6, and CD79B mutations, strongly suggesting that the PBL had transformed from a FL clone. The PBL also harbored BRAF V600E mutation and IGH::MYC fusion in addition to IGH::IRF4 fusion.
CONCLUSIONS
We propose that transformation or divergent clonal evolution of FL into PBL can occur when relevant genetic mutations are present. This study broadens the spectrum of histological transformation of t(14;18)-negative FL and emphasizes its biological and clinical heterogeneity.
Topics: Humans; Lymphoma, Follicular; Male; Middle Aged; Plasmablastic Lymphoma; Translocation, Genetic; Chromosomes, Human, Pair 14; Chromosomes, Human, Pair 18; Biomarkers, Tumor; Cell Transformation, Neoplastic; Lymph Nodes
PubMed: 38909266
DOI: 10.1186/s13000-024-01512-2 -
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 -
Chest Jun 2024Despite advances in precision medicine for non-small cell lung cancer (NSCLC), biomarker testing for these therapies remain frequently underutilized, delayed, and...
BACKGROUND
Despite advances in precision medicine for non-small cell lung cancer (NSCLC), biomarker testing for these therapies remain frequently underutilized, delayed, and inequitable. Pulmonologists often play a critical role in the initial diagnostic steps for patients with lung cancer and previous data show variability in their knowledge and practices regarding biomarker testing. The purpose of this study is to better understand how pulmonologists' view their role in lung cancer care.
RESEARCH QUESTION
With the increasing importance of biomarker testing and precision medicine, how do pulmonologists view their role in lung cancer care?
STUDY DESIGN
An electronic survey consisting of 31 items focused on attitudes and practices regarding diagnostic steps for NSCLC was randomly distributed to a sample of practicing pulmonologists in the American College of Chest Physicians (CHEST) Analytics database. Inferential statistics were performed using Chi tests and multivariable logistic regression models.
RESULTS
A total of 401 pulmonologists responded to the survey. The majority (92%) were general pulmonologists, and over half (62%) indicate they order biomarker testing. Longer practice tenure, higher case volumes, and participation in a multidisciplinary tumor board were associated with ordering biomarkers (p<0.05). Pulmonology was identified to have the leading responsibility for the initial diagnostic biopsy by most respondents (83%) and less often for staging (45%), leading discussions about biomarker testing with patients (28%), and for ordering biomarkers (22%). The most common reasons for not ordering biomarkers included: oncology was responsible (84%), it is not within their scope of practice (46%), or lack of the necessary knowledge (51%).
INTERPRETATION
Pulmonologists vary in their practices for ordering biomarkers and many defer this responsibility to oncology. Despite the role of bronchoscopy and pulmonology societal guidelines for staging, many defer leadership of this process. Many pulmonologists lack the necessary resources and multi-disciplinary infrastructure likely required to efficiently accomplish biomarker testing.
PubMed: 38906460
DOI: 10.1016/j.chest.2024.06.001 -
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