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Modern Pathology : An Official Journal... Sep 2015Metanephric adenoma is a benign renal neoplasm that overlaps in morphology with the solid variant of papillary renal cell carcinoma and epithelial-predominant...
Metanephric adenoma: the utility of immunohistochemical and cytogenetic analyses in differential diagnosis, including solid variant papillary renal cell carcinoma and epithelial-predominant nephroblastoma.
Metanephric adenoma is a benign renal neoplasm that overlaps in morphology with the solid variant of papillary renal cell carcinoma and epithelial-predominant nephroblastoma. To aid in resolving this differential diagnosis, we investigated the utility of immunohistochemical and molecular analyses in distinguishing between these entities; the first study, to our knowledge, to use a combined approach in analyzing all three tumors. We analyzed 37 tumors originally diagnosed as metanephric adenomas (2 of which we reclassified as papillary renal cell carcinomas), 13 solid variant papillary renal cell carcinomas, and 20 epithelial-predominant nephroblastomas using a combination of immunohistochemistry and fluorescence in situ hybridization (FISH) assessing for trisomy of chromosomes 7 and 17 and loss of Y. Immunohistochemical staining was performed for CK7, AMACR, WT1, and CD57. The combination of CK7-, AMACR-, WT1+, and CD57+ was considered characteristic of metanephric adenoma. Most of the tumors originally diagnosed as metanephric adenomas (31/37) showed the expected staining pattern of metanephric adenoma (CK7-, AMACR-, WT1+, and CD57+). Of the six tumors with discordant immunophenotype, two tumors were reclassified as papillary renal cell carcinoma after cytogenetic workup. It is recommended that all adult cases histologically resembling metanephric adenoma have WT1, CD57, CK7, and AMACR immunohistochemical staining performed. If the staining pattern is characteristic for metanephric adenoma (CK7-, AMACR-, WT1+, and CD57+, including membranous staining), then no other diagnostic tests are indicated. However, if there is a different immunostaining pattern, then we recommend FISH analysis.
Topics: Adenoma; Adult; Aged; Aged, 80 and over; Biomarkers, Tumor; Carcinoma, Renal Cell; Child; Cytogenetic Analysis; Diagnosis, Differential; Female; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Kidney Neoplasms; Male; Middle Aged; Wilms Tumor; Young Adult
PubMed: 26248896
DOI: 10.1038/modpathol.2015.81 -
Surgical Endoscopy Nov 2021Endoscopic papillectomy (EP) is considered a relatively safe and minimally invasive treatment for papillary adenomas. In the literature a significant risk for local...
BACKGROUND
Endoscopic papillectomy (EP) is considered a relatively safe and minimally invasive treatment for papillary adenomas. In the literature a significant risk for local recurrence is described. The aim of this study was to evaluate long-term recurrence rates and time-to-recurrence. Additionally, risk factors for recurrence, malignancy and adverse events were studied.
METHODS
This is a retrospective study in consecutive patients with papillary adenomas who underwent EP in two tertiary referral hospitals between 2001 and 2018. Primary outcome was recurrence in patients with at least 1-year endoscopic follow-up. Secondary outcomes were surgery free survival, adverse events, and mortality within 30 days after the index procedure.
RESULTS
A total of 259 patients were found eligible [median age 66 years, 130 male (50.2%)]. Forty-three patients were known with familial adenomatous polyposis (FAP) (16.6%). At least 1-year endoscopic follow-up was available in 154 patients with a total follow-up of 586 person-years and median of 40 months [interquartile range (IQR) 25-75]. Recurrence occurred in 24 cases (15.6%) of which 8 were known with FAP, leading to a recurrence incidence rate of 4.1 per 100 person-years with a median time-to-recurrence of 29 months (IQR 14.75-59.5). Fifty-three patients underwent at least 5-year follow-up, in 6 (11.3%) of them recurrence was encountered after 5 years of which four were known with FAP. No risk factors for recurrence could be identified. Adverse events occurred in 50/259 patients (19.3%). One patient died within 30 days after the procedure. Papillary stenosis occurred in 19/259 (7.3%) of the patients. There were no cases of malignant degeneration during follow-up.
CONCLUSIONS
Recurrence after EP occurs in a significant proportion of patients and occurs even 5 years after EP. This emphasizes the need for long-term follow-up. We advise to consider at least 5-year follow-up in case of a sporadic adenoma, unless comorbidity makes follow-up clinically irrelevant.
Topics: Adenoma; Aged; Ampulla of Vater; Common Bile Duct Neoplasms; Follow-Up Studies; Humans; Male; Neoplasm Recurrence, Local; Retrospective Studies; Treatment Outcome
PubMed: 33159297
DOI: 10.1007/s00464-020-08126-x -
Polski Przeglad Chirurgiczny Feb 2017The aim of this study was to assess short-term outcomes of surgical treatment of pancreatic cystic tumors (PCTs).
UNLABELLED
The aim of this study was to assess short-term outcomes of surgical treatment of pancreatic cystic tumors (PCTs).
MATERIAL AND METHODS
We retrospectively reviewed medical records of 46 patients (31 women and 15 men) who had undergone surgery for pancreatic cystic tumors in our department.
RESULTS
Pancreatic cystic tumors were located within the pancreatic head (21), body (11), tail (13), and whole pancreas (1). The following surgical procedures were performed: pancreatoduodenectomy (20), central pancreatectomy (9), distal pancreatectomy (3), distal pancreatectomy with splenectomy (3), distal extended pancreatectomy with splenectomy (2), total pancreatectomy (1), duodenum preserving pancreatic head resection (1), local tumor resection (4), and other procedures (2). Histopathological tumor types were as follows: serous cystadenoma (14), intraductal papillary mucinous adenoma (5), intraductal papillary mucinous carcinoma (5), solid pseudopapillary tumor (5), mucinous cystadenoma (5), mucinous cystadenoma with border malignancy (1), mucinous cystadenocarcinoma (2), adenocarcinoma (4), and other tumors (5). Early postoperative complications were observed in 14 (30.43%) patients. Reoperations were performed in 9 (19.56%) patients. The perioperative mortality rate was 6.52%.
CONCLUSIONS
Serous cystadenoma was the most common pancreatic cystic tumor in the analyzed group. PCTs were most frequently located within the pancreatic head. Pancreatic resection was possible in most patients, and pancreatoduodenectomy was the most common pancreatic resection type.
Topics: Cystadenoma, Mucinous; Cystadenoma, Serous; Female; Humans; Male; Pancreas; Pancreatectomy; Pancreatic Cyst; Pancreaticoduodenectomy; Poland; Retrospective Studies; Treatment Outcome
PubMed: 28522787
DOI: 10.5604/01.3001.0009.6008 -
Scientific Reports Dec 2022Microscopic evaluation of tissue sections stained with hematoxylin and eosin is the current gold standard for diagnosing thyroid pathology. Digital pathology is gaining...
Microscopic evaluation of tissue sections stained with hematoxylin and eosin is the current gold standard for diagnosing thyroid pathology. Digital pathology is gaining momentum providing the pathologist with additional cues to traditional routes when placing a diagnosis, therefore it is extremely important to develop new image analysis methods that can extract image features with diagnostic potential. In this work, we use histogram and texture analysis to extract features from microscopic images acquired on thin thyroid nodule capsules sections and demonstrate how they enable the differential diagnosis of thyroid nodules. Targeted thyroid nodules are benign (i.e., follicular adenoma) and malignant (i.e., papillary thyroid carcinoma and its sub-type arising within a follicular adenoma). Our results show that the considered image features can enable the quantitative characterization of the collagen capsule surrounding thyroid nodules and provide an accurate classification of the latter's type using random forest.
Topics: Humans; Thyroid Nodule; Diagnosis, Differential; Random Forest; Capsules; Thyroid Neoplasms; Adenoma
PubMed: 36517531
DOI: 10.1038/s41598-022-25788-w -
Head & Neck Mar 2023Intrathyroidal parathyroid adenomas (IPAs) are a rare cause of primary hyperparathyroidism. They are often difficult to localize preoperatively and intraoperatively,... (Review)
Review
Intrathyroidal parathyroid adenomas (IPAs) are a rare cause of primary hyperparathyroidism. They are often difficult to localize preoperatively and intraoperatively, making diagnosis and treatment challenging. Current data on IPAs are sparse and fragmented in the literature. This makes it difficult to compare the effectiveness of different imaging and surgical techniques. To address this issue, this scoping review maps the literature on IPAs, focusing on four domains: clinical presentation, current localization methods, different surgical techniques, and histopathological features. A search of MEDLINE, Embase, and the Cochrane Library was conducted, with 19 studies meeting the inclusion criteria. The characteristics of IPAs on ultrasound, fine-needle aspiration, CT, MRI, sestamibi-based techniques, and selective venous sampling are summarized. Emerging imaging modalities, including autofluorescence, are introduced. Surgical methods and intraoperative factors that correlate with high success rates for removal are highlighted. This review also identifies gaps in knowledge to guide further research into this area.
Topics: Humans; Parathyroid Neoplasms; Parathyroid Glands; Diagnostic Imaging; Radiopharmaceuticals; Ultrasonography; Adenoma; Technetium Tc 99m Sestamibi
PubMed: 36563301
DOI: 10.1002/hed.27287 -
The American Journal of Surgical... Aug 2018We have identified 25 lesions involving alveolar lung parenchyma characterized by nodular proliferation of bland bilayered bronchiolar-type epithelium containing a...
Bronchiolar Adenoma: Expansion of the Concept of Ciliated Muconodular Papillary Tumors With Proposal for Revised Terminology Based on Morphologic, Immunophenotypic, and Genomic Analysis of 25 Cases.
We have identified 25 lesions involving alveolar lung parenchyma characterized by nodular proliferation of bland bilayered bronchiolar-type epithelium containing a continuous layer of basal cells. These lesions shared some histologic features with the recently described entity of ciliated muconodular papillary tumor (CMPT); however, the majority did not fit all diagnostic criteria in that they exhibited only focal or absent papillary architecture, and they had variable number of ciliated and mucinous cells, with some lesions entirely lacking 1 or both of these components. The morphologic and immunohistochemical features ranged from those resembling proximal bronchioles (proximal-type: moderate to abundant mucinous and ciliated cells; negative or weak TTF1 in luminal cells; n=8) to those resembling respiratory bronchioles (distal-type: scant or absent mucinous and ciliated cells; positive TTF1 in luminal cells; n=17). The hallmark of all lesions was a continuous layer of basal cells (p40 and CK5/6-positive). We provisionally designated these lesions as bronchiolar adenomas (BAs) and analyzed their clinicopathologic and molecular features. All BAs were discrete, sharply circumscribed lesions with a median size of 0.5 cm (range, 0.2 to 2.0 cm). Most lesions were either entirely flat (n=14) or contained focal papillary architecture (n=7); only 4 lesions, all proximal-type, were predominantly papillary, fitting the classic description of CMPT. Notably, of 9 lesions submitted for frozen section evaluation, 7 were diagnosed as adenocarcinoma. No postsurgical recurrences were observed for any lesions (median follow-up, 11 mo). Twenty-one BAs underwent next-generation sequencing and/or immunohistochemistry for BRAF V600E, revealing mutation profiles similar to those previously described for CMPTs, including BRAF V600E mutations (n=8, 38%), unusual EGFR exon 19 deletions (n=2, 10%), EGFR exon 20 insertions (n=2, 10%), KRAS mutations (n=5, 24%), and HRAS mutations (n=1, 5%). The mutation profiles were similar in proximal-type and distal-type lesions. In conclusion, we describe a family of putatively benign clonal proliferations with a spectrum of morphology recapitulating various levels of the bronchiolar tree, of which only a minor subset fits the classic description of CMPT. Comparable mutation profiles and partially overlapping morphologic features across the spectrum of these lesions support their nosological relationship. We propose designating this entire family of lesions as BAs, and that lesions currently designated CMPTs represent a subgroup of this family.
Topics: Adenoma; Aged; Aged, 80 and over; Biomarkers, Tumor; Cell Proliferation; China; Cilia; DNA Mutational Analysis; Female; Humans; Immunohistochemistry; Immunophenotyping; Lung Neoplasms; Male; Middle Aged; Mucins; Multiple Pulmonary Nodules; Mutation; Predictive Value of Tests; Prospective Studies; Proto-Oncogene Proteins B-raf; Proto-Oncogene Proteins p21(ras); Retrospective Studies; Terminology as Topic; United States
PubMed: 29846186
DOI: 10.1097/PAS.0000000000001086 -
European Journal of Surgical Oncology :... Mar 2018The vast majority of low grade follicular cell derived thyroid carcinomas follows an indolent clinical course and is associated with very low mortality. Risk... (Review)
Review
The vast majority of low grade follicular cell derived thyroid carcinomas follows an indolent clinical course and is associated with very low mortality. Risk stratification using multiple clinical and pathologic characteristics has become the standard of care to guide appropriate management and avoid overtreatment. Over the past few decades, the field of thyroid pathology has witnessed several major changes that significantly impacted upon patients' care. These are: 1) The reclassification of non-invasive encapsulated follicular variant of papillary thyroid carcinoma as noninvasive follicular thyroid neoplasm with papillary-like nuclear features; 2) the diagnosis of Hurthle cell carcinoma based on the presence of capsular and vascular invasion; 3) a detailed definition of poorly differentiated thyroid carcinoma, taking into consideration mitosis and necrosis; and 4) the emphasis on a detailed pathologic analysis such as the extent of vascular invasion and extrathyroidal extension. This review describes these histological concepts and details the history, rationale, and clinical impacts of such changes. These shifts in the classification and characterization of thyroid carcinoma provided a platform supporting therapy de-escalation. In addition several lessons were learned from these changes especially from the misclassification of the non-invasive encapsulated follicular variant of papillary thyroid carcinoma. We hope that the lessons learned will help better classify tumors in the future whether arising in the thyroid or other organs.
Topics: Adenocarcinoma, Follicular; Adenoma, Oxyphilic; Carcinoma, Papillary; Humans; Neoplasm Grading; Neoplasm Invasiveness; Neoplasm Metastasis; Risk Assessment; Thyroid Neoplasms
PubMed: 28554832
DOI: 10.1016/j.ejso.2017.05.002 -
International Journal of Clinical and... 2015To assess the clinicopathological, immunohistochemical and molecular features of metanephric adenoma (MA). Clinicopathologic data were obtained for 5 cases of MA with...
To assess the clinicopathological, immunohistochemical and molecular features of metanephric adenoma (MA). Clinicopathologic data were obtained for 5 cases of MA with follow-up information. Specimens from these patients were stained by HE and immunohistochemistry for the detection of WT1, vimentin, S-100 protein, CK7, P504s, CD10 and renal cell carcinoma marker (RCC). Fluorescence in situ hybridization (FISH) was performed on 4 tumors. The patients included 1 male and 4 females, aged from 30 to 49 (mean=39) years. Tumor diameters ranged from 3 to 5.5 cm. Histologically, the tumors had tubular, papillary, or glomeruloid architectures, and were composed of cells with uniform and round nuclei, inconspicuous nucleoli, and high ratio of nucleus to cytoplasm. Nuclear polymorphism and mitotic figures were not observed. Immunohistochemically, they expressed WT1 (5/5), vimentin (5/5), S-100 (4/5), CK7 (2/5), P504s (2/5), and CD10 (1/5) and not RCC. FISH study was carried out on 4 metanephric adenoma cases, and no abnormalities were observed in chromosomes 3, 7, 17, and P16 gene of chromosomes 9. MA is an uncommon renal tumor. Its diagnosis depends on morphological, immunohistochemical and molecular features.
Topics: Adenoma; Adult; Biomarkers, Tumor; Female; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Kidney Neoplasms; Male; Middle Aged; Nephrectomy; Predictive Value of Tests; Tomography, X-Ray Computed; Tumor Burden
PubMed: 26261480
DOI: No ID Found -
PLoS Genetics Aug 2016Follicular thyroid carcinoma (FTC) and benign follicular adenoma (FA) are indistinguishable by preoperative diagnosis due to their similar histological features. Here we...
Follicular thyroid carcinoma (FTC) and benign follicular adenoma (FA) are indistinguishable by preoperative diagnosis due to their similar histological features. Here we report the first RNA sequencing study of these tumors, with data for 30 minimally invasive FTCs (miFTCs) and 25 FAs. We also compared 77 classical papillary thyroid carcinomas (cPTCs) and 48 follicular variant of PTCs (FVPTCs) to observe the differences in their molecular properties. Mutations in H/K/NRAS, DICER1, EIF1AX, IDH1, PTEN, SOS1, and SPOP were identified in miFTC or FA. We identified a low frequency of fusion genes in miFTC (only one, PAX8-PPARG), but a high frequency of that in PTC (17.60%). The frequencies of BRAFV600E and H/K/NRAS mutations were substantially different in miFTC and cPTC, and those of FVPTC were intermediate between miFTC and cPTC. Gene expression analysis demonstrated three molecular subtypes regardless of their histological features, including Non-BRAF-Non-RAS (NBNR), as well as BRAF-like and RAS-like. The novel molecular subtype, NBNR, was associated with DICER1, EIF1AX, IDH1, PTEN, SOS1, SPOP, and PAX8-PPARG. The transcriptome of miFTC or encapsulated FVPTC was indistinguishable from that of FA, providing a molecular explanation for the similarly indolent behavior of these tumors. We identified upregulation of genes that are related to mitochondrial biogenesis including ESRRA and PPARGC1A in oncocytic follicular thyroid neoplasm. Arm-level copy number variations were correlated to histological and molecular characteristics. These results expanded the current molecular understanding of thyroid cancer and may lead to new diagnostic and therapeutic approaches to the disease.
Topics: Adenoma; Adult; Aged; Carcinoma; Carcinoma, Papillary; Female; Gene Expression Regulation, Neoplastic; High-Throughput Nucleotide Sequencing; Humans; Male; Middle Aged; Mutation; Neoplasm Proteins; Thyroid Cancer, Papillary; Thyroid Neoplasms; Transcriptome
PubMed: 27494611
DOI: 10.1371/journal.pgen.1006239 -
Modern Pathology : An Official Journal... Oct 2022Digital papillary adenocarcinoma (DPAC) is a rare tumor of sweat gland origin that preferentially affects the digits and has the potential to metastasize. Its tumor...
Association of HPV42 with digital papillary adenocarcinoma and the use of in situ hybridization for its distinction from acral hidradenoma and diagnosis at non-acral sites.
Digital papillary adenocarcinoma (DPAC) is a rare tumor of sweat gland origin that preferentially affects the digits and has the potential to metastasize. Its tumor diagnosis can be difficult. Well-differentiated variants of DPAC can be confused with a benign sweat gland tumor, in particular nodular hidradenoma. With the recent detection of HPV42 DNA in DPAC by next-generation sequence analysis, we reasoned that this association could be used for diagnostic purposes. To this end, we performed in situ hybridization for HPV42 on 10 tumors diagnosed as DPAC as well as 30 sweat gland tumors of various histology types, including 8 acral hidradenomas. All DPAC were positive for HPV42. Positive hybridization signals for HPV42 were seen in both primary and metastatic DPACs. All other tumors and normal tissues were negative. This study confirms the association of HPV42 with the tumor cells of DPAC through in situ hybridization. The positive test result in all lesions of DPAC and lack of detection of HPV42 in any of the acral hidradenomas or other sweat gland tumors examined in this series is encouraging for the potential diagnostic utility of the assay. As documented by two scrotal tumors of DPAC, the in situ hybridization test for HPV42 can also help support the rare occurrence of this tumor at a non-acral site.
Topics: Acrospiroma; Adenocarcinoma, Clear Cell; Adenocarcinoma, Papillary; Adenoma, Sweat Gland; Bone Neoplasms; Breast Neoplasms; Female; Humans; In Situ Hybridization; Neoplasms, Connective Tissue; Sweat Gland Neoplasms
PubMed: 35538210
DOI: 10.1038/s41379-022-01094-8