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Cancer Cytopathology Feb 2024
Topics: Humans; Kidney; Adenoma, Oxyphilic; Kidney Neoplasms; Carcinoma, Renal Cell; Diagnosis, Differential
PubMed: 37523299
DOI: 10.1002/cncy.22748 -
International Journal of Surgical... May 2024Angiomyolipoma (AML) is a mesenchymal neoplasm that belongs to the perivascular epithelioid cell tumor family (PEComa). AMLs can be subtyped into several patterns... (Review)
Review
Oncocytoma-Like Angiomyolipoma of the Kidney: A Closer Look into the Clinicopathologic, Immunohistochemical, and Molecular Characteristics of a Rare Entity with Review of the Literature.
Angiomyolipoma (AML) is a mesenchymal neoplasm that belongs to the perivascular epithelioid cell tumor family (PEComa). AMLs can be subtyped into several patterns dependent on cell type, morphology, and tissue composition. One of the patterns, oncocytoma-like AML is a rare entity with only three cases published in the literature. We present a case of a previously healthy 29-year-old woman who underwent a left partial nephrectomy secondary to a 4.6 cm heterogeneous renal neoplasm. Gross examination demonstrated a well-circumscribed renal mass. Modified Giemsa stain preparation showed oncocytic cells in syncytial pattern with ample granular cytoplasm and round nuclei with prominent nucleoli. Histology assessment showed an oncocytic neoplasm with interspersed adipose tissue. The tumor exhibited tubular architecture with the tubules lined by eosinophilic epithelioid cells with nuclear atypia and prominent nucleoli. Thick blood vessels with emanating epithelioid cells were present. High-grade histology features were not identified. The tumor cells were positive for HMB-45 and SMA and negative for PAX8, keratins, KIT, and vimentin. A diagnosis of oncocytoma-like AML was rendered. Next-generation sequencing (NGS) and RNA fusion were performed. NGS revealed no pathogenic variants and RNA fusion identified no rearrangements. Chromosomal copy number alterations were present in the long arm of chromosome 1 (1p) and chromosome 22. We describe and discuss the clinical, cytomorphologic, histologic, and molecular findings of oncocytoma-like AML, a rare renal neoplasm, and provide a review of the literature.
Topics: Female; Humans; Adult; Angiomyolipoma; Adenoma, Oxyphilic; Kidney Neoplasms; Kidney; Hamartoma; Leukemia, Myeloid, Acute; RNA; Biomarkers, Tumor
PubMed: 37487196
DOI: 10.1177/10668969231186925 -
Clinical Nuclear Medicine Sep 2023Renal oncocytosis is a very rare oncologically indolent form of renal neoplasia characterized by diffuse involvement of renal parenchyma by numerous oncocytic nodules....
Renal oncocytosis is a very rare oncologically indolent form of renal neoplasia characterized by diffuse involvement of renal parenchyma by numerous oncocytic nodules. We describe contrast-enhanced CT and 99m Tc-MIBI SPECT/CT findings in a patient with renal oncocytosis presenting with metachronous bilateral renal tumors. Contrast-enhanced CT showed numerous tumors ranging from several millimeters up to 3.9 cm in the left kidney. The tumors showed hypervascularity in the corticomedullary phase and washout in the excretory phase mimicking renal cell carcinoma. The larger tumors showed higher 99m Tc-MIBI uptake than the adjacent renal parenchyma, suggesting renal oncocytoma confirmed by biopsy.
Topics: Humans; Kidney Neoplasms; Kidney; Single Photon Emission Computed Tomography Computed Tomography; Carcinoma, Renal Cell; Adenoma, Oxyphilic; Neoplasms, Second Primary; Technetium Tc 99m Sestamibi; Tomography, Emission-Computed, Single-Photon
PubMed: 37486723
DOI: 10.1097/RLU.0000000000004775 -
European Thyroid Journal Aug 2023Ultrasound-guided percutaneous ethanol injection therapy (US-PEIT) is used in patients with recurrent symptomatic thyroid cysts as a credible alternative to surgery....
OBJECTIVE
Ultrasound-guided percutaneous ethanol injection therapy (US-PEIT) is used in patients with recurrent symptomatic thyroid cysts as a credible alternative to surgery. Young patients commonly do not wish to undergo surgery and prefer ethanol ablation, if available. The effect of this approach on quality of life is an essential factor in deciding on the treatment options, especially in the young with a long life expectancy and no comorbidity.
METHODS
We performed US-PEIT in a cohort of young patients, 15-30 years, from 2015 to 2020. The patients' general quality of life (QoL), self-reported compression symptoms and neck appearance were evaluated.
RESULTS
The cohort comprised 59 patients with 63 cysts, more women than men, with a mean age of 23.8 years. About 1.5 mL of injected alcohol were needed to reach a 90.7% mean cyst volume reduction ratio in 12 months. The method did not fail in any of the patients; a single US-PEIT session was undertaken in 46% of them. The procedure significantly improved each of the patients' symptoms with a significant total score difference (P < 0.001). The total symptom score correlated with the initial cyst volume (P = 0.002; r = 0.395). The mean QoL score by SF-36 6 months after the last US-PEIT was significantly different for physical component summary 56.5 (P < 0.001) but not different for mental component summary 47.7 (P = 0.125), compared to age-corresponding norms.
CONCLUSIONS
US-PEIT is a safe and effective method for the young, leading to improvements in cosmetic and subjective complaints, and should also be considered as first-line treatment in the young.
Topics: Male; Humans; Female; Young Adult; Adult; Quality of Life; Ethanol; Thyroid Neoplasms; Adenoma, Oxyphilic; Cysts
PubMed: 37432713
DOI: 10.1530/ETJ-23-0085 -
Clinical Neuropathology 2023
Topics: Humans; Adenoma, Oxyphilic; Skull Base Neoplasms; Pituitary Neoplasms
PubMed: 37382339
DOI: 10.5414/NP301550 -
The Journal of Urology Sep 2023Technetium-99m-sestamibi single-photon emission CT/x-ray CT is an emerging clinical tool to differentiate oncocytic tumors from renal cell carcinomas. We report data...
PURPOSE
Technetium-99m-sestamibi single-photon emission CT/x-ray CT is an emerging clinical tool to differentiate oncocytic tumors from renal cell carcinomas. We report data from a large institutional cohort of patients who underwent technetium-99m-sestamibi scans during evaluation of renal masses.
MATERIALS AND METHODS
Patients who underwent technetium-99m-sestamibi single-photon emission CT/x-ray CT between February 2020 and December 2021 were included in the analysis. Scans were defined as "hot" for oncocytic tumor when technetium-99m-sestamibi uptake was qualitatively equivalent or higher between the mass of interest and normal renal parenchyma, suggesting oncocytoma, hybrid oncocytic/chromophobe tumor, or chromophobe renal cell carcinoma. Demographic, pathological, and management strategy data were compared between "hot" and "cold" scans. For individuals who underwent diagnostic biopsy or extirpative procedures, the concordance between radiological findings and pathology was indexed.
RESULTS
A total of 71 patients (with 88 masses) underwent technetium-99m-sestamibi imaging with 60 (84.5%) patients having at least 1 "cold" mass on imaging and 11 (15.5%) patients exhibiting only "hot" masses. Pathology was available for 7 "hot" masses, with 1 biopsy specimen (14.3%) being discordant (clear cell renal cell carcinoma). Five patients with "cold" masses underwent biopsy. Out of 5 biopsied masses, 4 (80%) were discordant oncocytomas. Of the extirpated specimens, 35/40 (87.5%) harbored renal cell carcinoma and 5/40 (12.5%) yielded discordant oncocytomas. In sum, 20% of pathologically sampled masses that were "cold" on technetium-99m-sestamibi imaging still harbored oncocytoma/hybrid oncocytic/chromophobe tumor/chromophobe renal cell carcinoma.
CONCLUSIONS
Further work is needed to define utility of technetium-99m-sestamibi in real-world clinical practice. Our data suggest this imaging strategy is not yet ready to replace biopsy.
Topics: Humans; Carcinoma, Renal Cell; Technetium Tc 99m Sestamibi; Kidney Neoplasms; Adenoma, Oxyphilic; Single Photon Emission Computed Tomography Computed Tomography; Tomography, X-Ray Computed; Tomography, Emission-Computed, Single-Photon; Radiopharmaceuticals
PubMed: 37378576
DOI: 10.1097/JU.0000000000003557 -
Cancer Cytopathology Sep 2023ThyroSeq molecular testing assesses the probability of malignancy (POM) in thyroid fine-needle aspiration cytology (FNAC) with indeterminate cytology. The aim was to...
BACKGROUND
ThyroSeq molecular testing assesses the probability of malignancy (POM) in thyroid fine-needle aspiration cytology (FNAC) with indeterminate cytology. The aim was to investigate whether Bethesda category IV (BIV) subcategories are associated with specific molecular alterations, molecular-derived risk of malignancy (MDROM), and risk of malignancy (ROM).
METHODS
FNAC slides, associated ThyroSeq, version 3, Genomic Classifier results, and surgical follow-up were retrieved for BIV nodules. Nodules were subcategorized as follicular neoplasm (FN) with or without cytologic atypia or oncocytic follicular neoplasm (OFN). The MDROM, ROM, and frequency of molecular alterations in FN and OFN were analyzed. p < .05 was considered significant.
RESULTS
A total of 92 FNAC were identified and subcategorized into 46 FN (15 with and 31 without cytologic atypia) and 46 OFN. The benign call rate and the positive call rate were 49% and 51%, respectively. The MDROM in BIV was 34.3%, trending lower in OFN than in FN. RAS mutations were significantly more frequent in FN when compared to OFN (p = .02). Chromosomal copy number alterations were more often present in OFN than in FN (p < .01). On histologic follow-up, ROM in OFN was trending lower than in FN (p = .1). The most common diagnosis in OFN was oncocytic adenoma, whereas follicular variant papillary thyroid carcinoma was most common in FN.
CONCLUSIONS
The MDROM and ROM were trending lower in OFN compared with FN, and the molecular alterations differed between OFN and FN subcategories.
Topics: Humans; Thyroid Neoplasms; Adenoma, Oxyphilic; Genomics; Molecular Diagnostic Techniques; Probability; Thyroid Nodule; Adenocarcinoma, Follicular; Retrospective Studies
PubMed: 37358081
DOI: 10.1002/cncy.22737 -
International Journal of Surgical... Apr 2024The differential diagnosis for oncocytic renal tumors spans the spectrum from benign entities to more aggressive renal cell carcinomas (RCC). Recent work has...
The differential diagnosis for oncocytic renal tumors spans the spectrum from benign entities to more aggressive renal cell carcinomas (RCC). Recent work has characterized a provisional renal oncocytic neoplasm, namely the low-grade oncocytic tumor (LOT), which demonstrates overlapping morphologic features with oncocytoma and chromophobe RCC, but also has a unique immunoprofile (ie, diffusely positive for KRT7, negative for KIT) and a high rate (80% to 100%) of mTOR pathway gene alterations. Given the diagnostic overlap among oncocytic tumors, we looked for concordance between mTOR pathway mutations and LOT. Thirty low-grade renal oncocytic neoplasms underwent histologic review and immunohistochemistry for KRT7 and KIT. Tumors were classified as "determinate" (eg, LOT) for tumors with solid, nested or vaguely tubular growth and diffuse KRT7 staining and negative KIT, or "indeterminate" if the morphology and/or immunostains did not fully support a definitive LOT diagnosis. Next-generation sequencing was performed without any knowledge of the diagnoses, and identified mTOR pathway mutations in 80% (12/15) of the determinate tumors, compared with 7% (1/15) in the indeterminate group. One determinate tumor was reclassified as papillary RCC ( mutation negative) and 6 indeterminate tumors were confirmed to be oncocytoma (N = 4), clear cell RCC or papillary RCC with reverse polarity, respectively. Overall, integration of morphology, immunohistochemistry, and molecular data enabled a final definitive diagnosis for 70% of tumors (21 of the total 30), with a high concordance (93%) for LOT specifically in the determinate group; the remaining 9 tumors (30%) were classified as renal oncocytic neoplasm, not otherwise specified.
Topics: Humans; Carcinoma, Renal Cell; Adenoma, Oxyphilic; Kidney Neoplasms; Mutation; Diagnosis, Differential; TOR Serine-Threonine Kinases; Biomarkers, Tumor
PubMed: 37357748
DOI: 10.1177/10668969231178032 -
Clinical Nuclear Medicine Aug 2023Preoperative differentiation of oncocytomas from renal cell carcinoma (RCC) is often challenging. 99m Tc-MIBI imaging could play a potential role in differentiating...
Preoperative differentiation of oncocytomas from renal cell carcinoma (RCC) is often challenging. 99m Tc-MIBI imaging could play a potential role in differentiating oncocytoma from RCC, which in turn could guide surgical decision-making. We present the use of 99m Tc-MIBI SPECT/CT to characterize a renal mass in a 66-year-old man with a complex medical history, including history of bilateral oncocytomas. 99m Tc-MIBI SPECT/CT showed features suspicious of a malignant tumor, which was confirmed postnephrectomy as a chromophobe and papillary RCC collision tumor. This case supports 99m Tc-MIBI imaging for preoperative differentiation of benign versus malignant renal tumors.
Topics: Male; Humans; Aged; Carcinoma, Renal Cell; Diagnosis, Differential; Kidney Neoplasms; Single Photon Emission Computed Tomography Computed Tomography; Technetium Tc 99m Sestamibi; Adenoma, Oxyphilic
PubMed: 37335313
DOI: 10.1097/RLU.0000000000004729 -
Cancer Discovery Aug 2023A metabolic hallmark of cancer identified by Warburg is the increased consumption of glucose and secretion of lactate, even in the presence of oxygen. Although many...
UNLABELLED
A metabolic hallmark of cancer identified by Warburg is the increased consumption of glucose and secretion of lactate, even in the presence of oxygen. Although many tumors exhibit increased glycolytic activity, most forms of cancer rely on mitochondrial respiration for tumor growth. We report here that Hürthle cell carcinoma of the thyroid (HTC) models harboring mitochondrial DNA-encoded defects in complex I of the mitochondrial electron transport chain exhibit impaired respiration and alterations in glucose metabolism. CRISPR-Cas9 pooled screening identified glycolytic enzymes as selectively essential in complex I-mutant HTC cells. We demonstrate in cultured cells and a patient-derived xenograft model that small-molecule inhibitors of lactate dehydrogenase selectively induce an ATP crisis and cell death in HTC. This work demonstrates that complex I loss exposes fermentation as a therapeutic target in HTC and has implications for other tumors bearing mutations that irreversibly damage mitochondrial respiration.
SIGNIFICANCE
HTC is enriched in somatic mtDNA mutations predicted to affect complex I of the electron transport chain (ETC). We demonstrate that these mutations impair respiration and induce a therapeutically tractable reliance on aerobic fermentation for cell survival. This work provides a rationale for targeting fermentation in cancers harboring irreversible genetically encoded ETC defects. See related article by Gopal et al., p. 1904. This article is highlighted in the In This Issue feature, p. 1749.
Topics: Humans; Fermentation; Thyroid Neoplasms; Adenoma, Oxyphilic; DNA, Mitochondrial; Adenocarcinoma; Carcinoma
PubMed: 37262072
DOI: 10.1158/2159-8290.CD-22-0982