Abstract:
BACKGROUND:Germline and somatic mutations of DICER1 have been identified in various types of neoplastic lesions, with germline DICER1 mutation being linked to autosomal dominant hereditary pleiotropic tumor syndrome (DICER1 syndrome). Patients with DICER1 syndrome are at increased risk of developing thyroid disease, including thyroid cancer. The goal of this study was to identify diagnostic cytologic features in thyroid fine-needle aspiration (FNA) samples from patients with DICER1 mutation. METHODS:Cytology cases of thyroid FNA from 7 patients with DICER1 mutation were identified. Clinical, imaging, cytomorphologic, and molecular data were analyzed. RESULTS:Cytologic preparations from reviewed cases showed thyroid lesions of follicular derivation with scant colloid, moderate cellularity, uniform follicular cells with round nuclei and inconspicuous nucleoli arranged in small crowded groups and microfollicles. Follicular neoplasm was diagnosed in 4 cases and follicular lesion of undetermined significance in 3 cases, based on the Bethesda System for Reporting Thyroid Cytopathology. Histopathological analysis of thyroid tissue confirmed neoplastic process in 6 out of 7 cases: follicular carcinoma (FC, 3 cases), papillary thyroid carcinoma (2 cases), poorly differentiated thyroid carcinoma (PDTC, 1 case). Genetic studies identified 3 different somatic variants of DICER1 gene, including transcript consequence c.5428G>T, which was detected in FC and PDTC (and has been described previously in multinodular goiter). CONCLUSION:DICER1 mutation in all analyzed patients was identified as a result of thyroid FNA evaluation, emphasizing the critical role of FNA in the screening of patients with thyroid nodules, proper diagnosis of thyroid disease, and monitoring of patients with DICER1 mutation.
journal_name
Cancer Cytopatholjournal_title
Cancer cytopathologyauthors
Darbinyan A,Morotti R,Cai G,Prasad ML,Christison-Lagay E,Dinauer C,Adeniran AJdoi
10.1002/cncy.22329subject
Has Abstractpub_date
2020-10-01 00:00:00pages
746-756issue
10eissn
1934-662Xissn
1934-6638journal_volume
128pub_type
杂志文章abstract:BACKGROUND:The Paris System for Reporting Urinary Cytology (TPS) defines clear morphologic criteria to classify urinary specimens into 7 diagnostic categories. According to TPS, a nuclear-to-cytoplasmic ratio (N:C ratio) >0.7 and hyperchromasia must be observed to render a diagnosis of high-grade urothelial carcinoma (...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22218
更新日期:2020-02-01 00:00:00
abstract:BACKGROUND:The availability of suitable biospecimens is critical to the success of advanced genomic analyses. The objective of this study was to assess the sensitivity of fine-needle aspiration (FNA) compared with gross surgical sampling (GSS) from surgical specimens for the detection of somatic mutations in breast can...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21599
更新日期:2015-11-01 00:00:00
abstract:BACKGROUND:Angiomyolipoma (AML), typically composed of smooth muscle, vessels, and fat, is generally a benign tumor in the kidneys. However, it occasionally occurs in extrarenal sites and behaves like a malignant tumor. AML is uncommonly encountered in fine-needle aspiration (FNA) samples and can cause diagnostic diffi...
journal_title:Cancer cytopathology
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doi:10.1002/cncy.21824
更新日期:2017-04-01 00:00:00
abstract::BACKGROUND.: Pancreatic ductal adenocarcinoma is rarely detected early enough for patients to be cured. The objective of the authors was to develop a monoclonal antibody to distinguish adenocarcinoma and precancerous intraductal papillary mucinous neoplasia (IPMN) from benign epithelium. METHODS.: Mice were immunized ...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21223
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:New developments in the treatment of lung cancer have necessitated the further histologic and cytologic subtyping of nonsmall cell lung carcinomas. Thyroid transcription factor-1 (TTF-1) long has served as the predominant marker for demonstrating lung origin. However, it is also expressed in a variety of oth...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.20108
更新日期:2010-12-25 00:00:00
abstract:BACKGROUND:Limited studies have examined the impact of the Bethesda System for Reporting Thyroid Cytopathology (BSRTC) and specifically the category of atypia or follicular lesion of undetermined significance (AUS/FLUS). We studied their effects on reporting rates, subsequent management, and surgical outcome over a 10-...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21468
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:The objective of this study was to assess how atypical diagnostic category (ADC) is followed up, its outcomes, and the predictors that are associated with subsequent diagnosis of neoplasm/malignancy. METHODS:We reviewed pancreatic endoscopic ultrasound fine-needle aspiration (EUS-FNA) with ADC and compared ...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21389
更新日期:2014-06-01 00:00:00
abstract:BACKGROUND:The Bethesda System for Reporting Thyroid Cytopathology category of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) includes fine-needle aspiration (FNA) specimens that cannot straightforwardly be classified as benign or malignant. To determine whether morphologi...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21984
更新日期:2018-05-01 00:00:00
abstract:BACKGROUND:Although thyroid fine-needle aspiration (TFNA) is an excellent test in evaluating thyroid nodules, there are occasionally false negatives (FN). The clinical impact and pathologic features of FN TFNA is understudied in the peer-reviewed literature. METHODS:A cohort of patients with thyroid cancer was separat...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21196
更新日期:2012-10-25 00:00:00
abstract:BACKGROUND:In the United States, the rate of cervical cancer is disproportionally higher in Hispanic and Black women compared with White women. In the current study, the authors compared human papillomavirus (HPV) testing and cytology results among Black and White women over a 24-month period. They then assessed the ra...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22316
更新日期:2020-11-01 00:00:00
abstract::The American Society for Colposcopy and Cervical Pathology (ASCCP) guidelines for the management of women with abnormal cervical screening test results is a powerful, evidence-based document representing an advance in the consistent treatment of women with cervical abnormalities. Nevertheless, the complexity of the gu...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.20097
更新日期:2010-10-25 00:00:00
abstract:BACKGROUND:The use of topically applied hemostatic substances during surgery has become a common practice. In some cases, the material is not absorbed or induces a granulomatous reaction resulting in a pseudotumoral lesion. With imaging studies, it is not possible to differentiate this from a tumor recurrence or absces...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22194
更新日期:2019-12-01 00:00:00
abstract:BACKGROUND:Epithelioid sarcoma (ES) is a rare mesenchymal tumor that is divided into 2 types: classic and proximal. To the authors' knowledge, ES has been poorly studied in cytology, with fewer than 50 cases reported to date. The objective of the current study was to analyze the cytological and immunohistochemical info...
journal_title:Cancer cytopathology
pub_type: 杂志文章,评审
doi:10.1002/cncy.22052
更新日期:2018-11-01 00:00:00
abstract::The recent emergence of immune checkpoint inhibitors for cancer therapy has created much excitement among cancer patients, drug and diagnostic developers, and health care professionals. This is due largely to the dramatic and sustained responses among some advanced cancers that were previously refractory to therapy. U...
journal_title:Cancer cytopathology
pub_type: 杂志文章,评审
doi:10.1002/cncy.21951
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:SMARCB1 (INI-1)-deficient sinonasal carcinoma (IDSNC) is a newly described, poorly differentiated carcinoma. Herein, the authors describe the cytopathologic features of IDSNC in fine-needle aspiration (FNA) samples. METHODS:The pathology archives of 2 academic institutions were searched for cases of IDSNC w...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22020
更新日期:2018-08-01 00:00:00
abstract:BACKGROUND:The usefulness of GATA3 (GATA-binding protein 3 to DNA sequence [A/T]GATA[A/G]) as a marker for metastatic breast carcinoma in serous effusion specimens was investigated. METHODS:Cell block sections from 74 serous effusion specimens (32 ascitic, 2 pericardial, and 40 pleural fluids) were stained with an ant...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21393
更新日期:2014-04-01 00:00:00
abstract:BACKGROUND:The Milan System for Reporting Salivary Gland Cytopathology is a tiered classification scheme that includes 6 diagnostic categories. Neoplasm, which is 1 of the 6 proposed categories, consists of benign neoplasm and neoplasm of uncertain malignant potential (NUMP). NUMP is reserved for a salivary gland neopl...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22002
更新日期:2018-07-01 00:00:00
abstract:BACKGROUND:Ewing sarcoma (ES) is a round cell sarcoma that can be challenging to diagnose on cytologic material given its significant overlap with numerous mesenchymal, epithelial, and lymphoid cytomorphologic mimics. The objective of this study was to assess the utility of a novel marker, NKX2.2, in the diagnosis of E...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22056
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:Accurate fine-needle aspiration (FNA) diagnosis of metastatic melanoma is of therapeutic and prognostic significance and often requires ancillary studies. To the authors' knowledge, the reliability of immunostaining using a pan-melanoma cocktail, Sry-related HMG-BOX gene 10 (SOX10), and microphthalmia transc...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21458
更新日期:2014-10-01 00:00:00
abstract:BACKGROUND:Human papillomavirus (HPV) tests and genotyping have been used in clinical risk assessment. The purpose of this study was to analyze the performance of 2 common HPV testing platforms in detecting high-grade cervical lesions (high-grade squamous intraepithelial lesion [HSIL] or worse [≥HSIL]). METHODS:Betwee...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21875
更新日期:2017-08-01 00:00:00
abstract:BACKGROUND:Fluorescence in situ hybridization (FISH) is routinely used to help clarify atypical urinary cytology. However, to the authors' knowledge, little is known regarding the frequency of chromosomal aberrations in non-neoplastic conditions that could potentially lead to false-positive FISH results. The objective ...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.20171
更新日期:2011-12-25 00:00:00
abstract:BACKGROUND:Recommendations regarding how many nodules to biopsy with thyroid fine-needle aspiration vary. METHODS:The authors reviewed fine-needle aspiration specimens of 12,763 nodules from 10,506 patients and correlated them with the number of nodules biopsied. RESULTS:Compared with patients in whom only a single n...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21904
更新日期:2017-11-01 00:00:00
abstract:BACKGROUND:Mutations of AT-rich interactive domain 1 (ARID1A) have been associated with a worse outcome after intravesical treatment with bacille Calmette-Guérin in patients with non-muscle-invasive bladder cancer (NMIBC). Loss of ARID1A protein expression in urine cytology may serve as an indication of an ARID1A mutat...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22167
更新日期:2019-09-01 00:00:00
abstract::The American Society of Cytopathology has provided guidelines for goals and objectives for cytopathology fellows. There are 90 Accreditation Council for Graduate Medical Education-accredited cytopathology fellowship training programs in the United States, each with its own unique curriculum designed to achieve these g...
journal_title:Cancer cytopathology
pub_type: 杂志文章,评审
doi:10.1002/cncy.21483
更新日期:2014-12-01 00:00:00
abstract:BACKGROUND:The objective of the current study was to investigate the clinical performance of detecting high-grade lesions with the CINtec PLUS p16(INK4a)/Ki-67 dual stain and the APTIMA human papillomavirus (HPV) Assay in a cohort of women with low-grade squamous intraepithelial lesion (LSIL) cytology. The authors also...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21233
更新日期:2013-03-01 00:00:00
abstract:BACKGROUND:The newly unveiled Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) has proposed salivary gland neoplasm of uncertain malignant potential (SUMP) as an indeterminate category. The category is reserved for fine-needle aspiration (FNA) cases that are diagnostic of a salivary gland neoplasm but c...
journal_title:Cancer cytopathology
pub_type: 杂志文章,多中心研究
doi:10.1002/cncy.22066
更新日期:2018-11-01 00:00:00
abstract:BACKGROUND:To the authors' knowledge, the diagnostic value of cell block (CB) as an adjunct to ThinPrep liquid-based cytology (LBC) of bronchial washing specimens in the detection and subclassification of pulmonary neoplasms has not been well evaluated. The objective of the current study was to evaluate the diagnostic ...
journal_title:Cancer cytopathology
pub_type: 杂志文章,随机对照试验
doi:10.1002/cncy.20181
更新日期:2012-04-25 00:00:00
abstract:BACKGROUND:Antigen retrieval, a crucial technique for immunostaining, is often carried out on formalin-fixed, paraffin-embedded (FFPE) tissue sections. The role of antigen retrieval in immunostaining of ethanol-fixed smears remains unclear. The authors evaluated the effects of 2 common antigen retrieval procedures, hea...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21192
更新日期:2012-06-25 00:00:00
abstract:BACKGROUND:Personalized oncology requires molecular analysis of tumor cells. Several studies have demonstrated that cytological material is suitable for DNA analysis, but to the authors' knowledge there are no systematic studies comparing how the yield and quality of extracted DNA is affected by the various techniques ...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.21276
更新日期:2013-07-01 00:00:00
abstract:BACKGROUND:Transbronchial needle aspiration (TBNA) of peripheral lung nodules can be difficult with conventional devices due to their limited flexibility. A promising new technology for accessing these lesions is the PeriView FLEX TBNA device, which has a flexible spiral-grooved needle. The present study reports the un...
journal_title:Cancer cytopathology
pub_type: 杂志文章
doi:10.1002/cncy.22240
更新日期:2020-05-01 00:00:00