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Cureus Oct 2023The World Health Organization recently recognized intraductal oncocytic papillary neoplasms of the pancreas (IOPNs) as distinct, pre-malignant pancreatic neoplasms. Due...
The World Health Organization recently recognized intraductal oncocytic papillary neoplasms of the pancreas (IOPNs) as distinct, pre-malignant pancreatic neoplasms. Due to their unique macroscopic and microscopic features, IOPNs are typically easy to diagnose and yield an indolent prognostic outcome. The diagnosis may be more complicated, and the prognosis may differ if an associated invasive carcinoma is present. Owing to the rarity of this entity, the available data is severely limited. Herein, we report a diagnostically challenging case of an IOPN associated with invasive carcinoma, initially presenting as a gastric mass with distinctive radiological and histopathological features.
PubMed: 38034225
DOI: 10.7759/cureus.47886 -
Cureus Oct 2023A 59-year-old woman underwent an abdominal and pelvic computed tomography (CT) scan to rule out non-obstructive urolithiasis. The patient was asymptomatic, with the...
A 59-year-old woman underwent an abdominal and pelvic computed tomography (CT) scan to rule out non-obstructive urolithiasis. The patient was asymptomatic, with the exception of occasional bilateral low back pain. A physical examination did not reveal any notable findings. The CT scan revealed the presence of an incidental solid left adrenal lesion, which displaced the body of the pancreas and the left kidney. The lesion measured 7 cm × 6.5 cm and exhibited a rounded morphology with well-defined margins. It showed progressive and heterogeneous contrast uptake. Additionally, magnetic resonance imaging (MRI) was performed, confirming the presence of an adrenal lesion with intense and heterogeneous hypersignal on T2. The lesion also demonstrated heterogeneous and persistent enhancement in a dynamic study. Furthermore, there were some indistinct and non-specific hypointense areas identified on both T1 and T2 sequences. The lesion exhibited moderately restricted diffusion. Although the imaging features were non-specific, there were no indications of invasion or distant metastasis, which made a benign large adrenal mass the most likely diagnosis. Non-functioning pheochromocytoma, lipid-poor adrenal adenoma, as well as metastasis or primary adrenal carcinoma, were considered differential diagnoses. The patient underwent an elective adrenalectomy, during which the identified lesion was completely resected. The patient's postoperative recovery was uneventful, and she was discharged three days after the procedure. Subsequent histopathological evaluation revealed an oncocytic neoplasm of the adrenal cortex - specifically, an oncocytoma.
PubMed: 38034194
DOI: 10.7759/cureus.47994 -
Medicine Nov 2023Lung cancer is one of the most common cancers prevalent and around 80% of all cases are non-small cell lung cancer (NSCLC). Due to high recurrence rates, the mortality... (Review)
Review
Lung cancer is one of the most common cancers prevalent and around 80% of all cases are non-small cell lung cancer (NSCLC). Due to high recurrence rates, the mortality of NSCLC is high. Conventional staging systems allowed risk classification of patients in order to simplify the patient selection for adjuvant chemotherapy. Gene expression analysis has been shown to possess advantage over conventional staging systems in NSCLC in terms of patients risk classification. This article reviews the evidences on the genomic profiling of NSCLC patients into high and low-risk groups based on the expression of genes involved in various proliferative pathways.
Topics: Humans; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Clinical Relevance; Neoplasm Staging; Prognosis; Genomics; Chemotherapy, Adjuvant
PubMed: 38013359
DOI: 10.1097/MD.0000000000036003 -
Thyroid : Official Journal of the... Jan 2024An accurate preoperative workup of cytologically indeterminate thyroid nodules (ITN) may rule out malignancy and avoid diagnostic surgery for benign nodules. This study... (Clinical Trial)
Clinical Trial
An accurate preoperative workup of cytologically indeterminate thyroid nodules (ITN) may rule out malignancy and avoid diagnostic surgery for benign nodules. This study assessed the performance of molecular diagnostics (MD) and 2-[F]fluoro-2-deoxy-d-glucose ([F]FDG)-positron emission tomography/computed tomography (PET/CT) in ITN, including their combined use, and explored whether molecular alterations drive the differences in [F]FDG uptake among benign nodules. Adult, euthyroid patients with a Bethesda III or IV thyroid nodule were prospectively included in this multicenter study. They all underwent MD and an [F]FDG-PET/CT scan of the neck. MD was performed using custom next-generation sequencing panels for somatic mutations, gene fusions, and copy number alterations and loss of heterozygosity. Sensitivity, specificity, negative and positive predictive value (NPV, PPV), and benign call rate (BCR) were assessed for MD and [F]FDG-PET/CT separately and for a combined approach using both techniques. In 115 of the 132 (87%) included patients, MD yielded a diagnostic result on cytology. Sensitivity, specificity, NPV, PPV, and BCR were 80%, 69%, 91%, 48%, and 57% for MD, and 93%, 41%, 95%, 36%, and 32% for [F]FDG-PET/CT, respectively. When combined, sensitivity and specificity were 95% and 44% for a double-negative test (i.e., negative MD plus negative [F]FDG-PET/CT) and 68% and 86% for a double-positive test, respectively. Concordance was 63% (82/130) between MD and [F]FDG-PET/CT. There were more MD-positive nodules among the [F]FDG-positive benign nodules (25/59, 42%, including 11 (44%) isolated RAS mutations) than among the [F]FDG-negative benign nodules (7/30, 19%, = 0.02). In oncocytic ITN, the BCR of [F]FDG-PET/CT was mere 3% and MD was the superior technique. MD and [F]FDG-PET/CT are both accurate rule-out tests when unresected nodules that remain unchanged on ultrasound follow-up are considered benign. It may vary worldwide which test is considered most suitable, depending on local availability of diagnostics, expertise, and cost-effectiveness considerations. Although complementary, the benefits of their combined use may be confined when therapeutic consequences are considered, and should therefore not routinely be recommended. In nononcocytic ITN, sequential testing may be considered in case of a first-step MD negative test to confirm that withholding diagnostic surgery is oncologically safe. In oncocytic ITN, after further validation studies, MD might be considered. This trial is registered with ClinicalTrials.gov: NCT02208544 (August 5, 2014), https://clinicaltrials.gov/ct2/show/NCT02208544.
Topics: Adult; Humans; Fluorodeoxyglucose F18; Pathology, Molecular; Positron Emission Tomography Computed Tomography; Positron-Emission Tomography; Radiopharmaceuticals; Thyroid Neoplasms; Thyroid Nodule
PubMed: 38009209
DOI: 10.1089/thy.2023.0337 -
The American Journal of Surgical... Feb 2024Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of multifocal renal tumors, including hybrid oncocytic tumor (HOT) and chromophobe renal cell...
Hybrid Oncocytic Tumors (HOTs) in Birt-Hogg-Dubé Syndrome Patients-A Tale of Two Cities: Sequencing Analysis Reveals Dual Lineage Markers Capturing the 2 Cellular Populations of HOT.
Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of multifocal renal tumors, including hybrid oncocytic tumor (HOT) and chromophobe renal cell carcinoma (chRCC). HOT exhibits heterogenous histologic features overlapping with chRCC and benign renal oncocytoma, posing challenges in diagnosis of HOT and renal tumor entities resembling HOT. In this study, we performed integrative analysis of bulk and single-cell RNA sequencing data from renal tumors and normal kidney tissues, and nominated candidate biomarkers of HOT, L1CAM, and LINC01187 , which are also lineage-specific markers labeling the principal cell and intercalated cell lineages of the distal nephron, respectively. Our findings indicate the principal cell lineage marker L1CAM and intercalated cell lineage marker LINC01187 to be expressed mutually exclusively in a unique checkered pattern in BHD-associated HOTs, and these 2 lineage markers collectively capture the 2 distinct tumor epithelial populations seen to co-exist morphologically in HOTs. We further confirmed that the unique checkered expression pattern of L1CAM and LINC01187 distinguished HOT from chRCC, renal oncocytoma, and other major and rare renal cell carcinoma subtypes. We also characterized the histopathologic features and immunophenotypic features of oncocytosis in the background kidney of patients with BHD, as well as the intertumor and intratumor heterogeneity seen within HOT. We suggest that L1CAM and LINC01187 can serve as stand-alone diagnostic markers or as a panel for the diagnosis of HOT. These lineage markers will inform future studies on the evolution and interaction between the 2 transcriptionally distinct tumor epithelial populations in such tumors.
Topics: Humans; Birt-Hogg-Dube Syndrome; Cities; Neural Cell Adhesion Molecule L1; Kidney Neoplasms; Carcinoma, Renal Cell; Adenoma, Oxyphilic
PubMed: 37994665
DOI: 10.1097/PAS.0000000000002152 -
Lung Cancer (Amsterdam, Netherlands) Dec 2023In the phase 3 POSEIDON study, first-line tremelimumab plus durvalumab and chemotherapy significantly improved overall survival and progression-free survival versus... (Randomized Controlled Trial)
Randomized Controlled Trial
OBJECTIVES
In the phase 3 POSEIDON study, first-line tremelimumab plus durvalumab and chemotherapy significantly improved overall survival and progression-free survival versus chemotherapy in metastatic non-small-cell lung cancer (NSCLC). We present patient-reported outcomes (PROs).
PATIENTS AND METHODS
Treatment-naïve patients were randomized 1:1:1 to tremelimumab plus durvalumab and chemotherapy, durvalumab plus chemotherapy, or chemotherapy. PROs (prespecified secondary endpoints) were assessed using the European Organisation for Research and Treatment of Cancer 30-item core quality of life questionnaire version 3 (QLQ-C30) and its 13-item lung cancer module (QLQ-LC13). We analyzed time to deterioration (TTD) of symptoms, functioning, and global health status/quality of life (QoL) from randomization by log-rank test and improvement rates by logistic regression.
RESULTS
972/1013 (96 %) patients randomized completed baseline QLQ-C30 and QLQ-LC13 questionnaires, with scores comparable between treatment arms. Patients receiving tremelimumab plus durvalumab and chemotherapy versus chemotherapy had longer median TTD for all PRO items. Hazard ratios for TTD favored tremelimumab plus durvalumab and chemotherapy for all items except diarrhea; 95 % confidence intervals did not cross 1.0 for global health status/QoL, physical functioning, cognitive functioning, pain, nausea/vomiting, insomnia, constipation, hemoptysis, dyspnea, and pain in other parts. For durvalumab plus chemotherapy, median TTD was longer versus chemotherapy for all items except nausea/vomiting and diarrhea. Hazard ratios favored durvalumab plus chemotherapy for all items except appetite loss; 95 % confidence intervals did not cross 1.0 for global health status/QoL, physical functioning, role functioning, dyspnea, and pain in other parts. For both immunotherapy plus chemotherapy arms, improvement rates in all PRO items were numerically higher versus chemotherapy, with odds ratios > 1.
CONCLUSIONS
Tremelimumab plus durvalumab and chemotherapy delayed deterioration in symptoms, functioning, and global health status/QoL compared with chemotherapy. Together with significant improvements in survival, these results support tremelimumab plus durvalumab and chemotherapy as a first-line treatment option in metastatic NSCLC.
Topics: Humans; Carcinoma, Non-Small-Cell Lung; Lung Neoplasms; Quality of Life; Patient Reported Outcome Measures; Dyspnea; Pain; Diarrhea; Nausea; Vomiting; Antineoplastic Combined Chemotherapy Protocols
PubMed: 37992595
DOI: 10.1016/j.lungcan.2023.107422 -
Current Opinion in Oncology Jan 2024The assessment of thyroid nodules is a common clinical problem, linked to the high incidence of thyroid nodules in the population and the low incidence of aggressive... (Review)
Review
PURPOSE OF REVIEW
The assessment of thyroid nodules is a common clinical problem, linked to the high incidence of thyroid nodules in the population and the low incidence of aggressive thyroid carcinoma. The screening is therefore one of the strengths of our patient care. Recently, the 2023 Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) and 2022 WHO classification of thyroid neoplasms have been released based on the definition of new entities and the growing impact of molecular testing. The aim of this review is to analyze how these upgrades can help us in the daily routine practice diagnosis of thyroid cancer.
RECENT FINDINGS
Our review is focused on the most frequent thyroid tumors derived from thyroid follicular cell. Fine needle aspiration (FNA) is the gold standard for the screening of thyroid nodules with very high levels of sensitivity and specificity. These sensitivity and specificity are improved by molecular testing, which refines the risk of malignancy. The 2023 TBSRTC integrates molecular data and the upgrades integrated in the 2022 WHO classification such as the 'low-risk neoplasms' and the 'high-grade follicular-cells derived carcinoma'. The morphological examination remains crucial since the capsular and/or vascular invasion are key features of malignancy in the follicular thyroid neoplasms. Low-risk neoplasms represent a clinical challenge since no specific guidelines are available. Challenges remain regarding oncocytic thyroid lesions, which are not associated with specific diagnostic molecular biomarkers. Molecular testing can help not only in deciphering the prognosis but also in the targeted therapeutic strategy.
SUMMARY
While molecular testing has succeeded to substantially improve the pre and postoperative diagnosis and risk stratification of thyroid tumors, the morphological examination is still central in the daily routine diagnosis of thyroid pathology. Future is the integrated diagnosis of clinical, morphological, molecular and epigenetic features with the help of artificial intelligence algorithms.
Topics: Humans; Thyroid Nodule; Artificial Intelligence; Adenocarcinoma, Follicular; Thyroid Neoplasms; World Health Organization; Retrospective Studies
PubMed: 37975316
DOI: 10.1097/CCO.0000000000001012 -
Journal of Clinical Medicine Nov 2023The adrenocortical oncocytic neoplasms (AONs) are rare tumors of the adrenal gland, classified as oncocytoma (AO), oncocytic neoplasm of uncertain malignant potential... (Review)
Review
INTRODUCTION
The adrenocortical oncocytic neoplasms (AONs) are rare tumors of the adrenal gland, classified as oncocytoma (AO), oncocytic neoplasm of uncertain malignant potential (AONUMP) and oncocytic carcinoma (AOC). The aim of this study was to perform a review of the literature, in order to evaluate the prognosis of these rare cancers. We also reported the oldest patient with AON.
METHODS
A comprehensive literature review using as key words "adrenal oncocytoma", "adrenal oncocytic neoplasm", and "adrenal oncocytic carcinoma" was performed.
REPORT OF THE CASE
We report the case of an 88-year-old woman receiving a left open adrenalectomy for an AON (15 × 10 × 8 cm). The considerable size and weight together with the presence of necrosis were indicative for a lesion with an uncertain potential for malignancy, according to Weiss modified criteria. After two years, the patient was free from any sign of recurrence.
RESULTS
Only 287 AONs were detected in the scientific literature, exploring OVID, MEDLINE, PubMed and SCOPUS as dataset. These tumors are usually incidentalomas with an unpredictable malignant potential. Surgical resection remains the mainstay of treatment for AON.
CONCLUSION
AO and AONUMP have an excellent prognosis and a low mortality rate, with only three cases of recurrence reported in the literature and one metastatic case four years after first adrenal surgery. In contrast, AOC carries a high risk of local relapses, distant metastasis, and a significantly higher mortality rate (30%). Surgical resection remains the primary treatment for adrenal oncocytic neoplasms.
PubMed: 37959390
DOI: 10.3390/jcm12216925 -
Virchows Archiv : An International... Dec 2023In the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of...
In the spectrum of oncocytic renal neoplasms, a subset of tumors with high-grade-appearing histologic features harboring pathogenic mutations in mammalian target of rapamycin (mTOR) and hitherto clinical indolent behavior has been described. Three cases (2F,1 M) with histologically documented metastases (lymph node, skull, and liver) were retrieved and extensively investigated by immunohistochemistry, FISH, and next-generation sequencing. Tumors were composed of eosinophilic cells with prominent nucleoli (G3 by ISUP/WHO) arranged in solid to nested architecture. Additionally, there were larger cells with perinuclear cytoplasmic shrinkage and sparse basophilic Nissl-like granules, superficially resembling the so-called spider cells of cardiac rhabdomyomas. The renal tumors, including the skull and liver metastases, showed immunoexpression PAX8, CK8-18, and cathepsin-K, and negativity for vimentin. NGS identified mTOR genetic alterations in the three cases, including the skull and liver metastases. One patient was then treated with Everolimus (mTOR inhibitors) with clinical response (metastatic tumor shrinkage). We present a distinct renal tumor characterized by high-grade eosinophilic cells, cathepsin-K immunohistochemical expression, and harboring mTOR gene mutations demonstrating a malignant potential and showing responsiveness to mTOR inhibitors.
Topics: Humans; Biomarkers, Tumor; Carcinoma, Renal Cell; Chromosomes, Human, Pair 1; Kidney Neoplasms; Liver Neoplasms; MTOR Inhibitors; Mutation; TOR Serine-Threonine Kinases
PubMed: 37938323
DOI: 10.1007/s00428-023-03688-2 -
The Journal of International Medical... Nov 2023Collision tumour of the thyroid is a rare entity for which surgical resection is the primary treatment. We present here a case of a collision thyroid tumour of oncocytic...
Collision tumour of the thyroid is a rare entity for which surgical resection is the primary treatment. We present here a case of a collision thyroid tumour of oncocytic and papillary carcinoma with lung metastases occurring in a 62-year-old woman who initially presented with a rapidly enlarging cervical mass and dyspnoea. The patient had extensive venous tumour thrombosis in the internal jugular and subclavian veins. The patient received six cycles of combined chemotherapy with nedaplatin and paclitaxel which significantly reduced the size of the metastases in the lungs. Following discharge from the hospital, the patient was treated with oral anlotinib and at 14 months follow up she had not experienced any serious side effects and the metastases in her lung and thyroid surgery areas were well controlled.
Topics: Humans; Female; Middle Aged; Paclitaxel; Thyroid Neoplasms; Lung Neoplasms
PubMed: 37929821
DOI: 10.1177/03000605231208602