Publications by authors named "Ohori N"

Introduction: Thyroid cytopathology cases with suspicious for malignancy (SFM) diagnosis often result in resection. However, molecular testing offers details that may provide additional insights. In this study, the molecular profiles of SFM cases from two institutions that routinely used ThyroSeq v3 (TSV3) were examined.

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Evolving concepts in thyroid cytology.

J Am Soc Cytopathol

November 2024

Concepts in thyroid diagnostics are evolving. As cytopathologists, we benefit from understanding the changes taking place in cytopathology practice as well as intersecting areas that may have implications for us. In this review, we discuss recent changes to 1.

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Introduction: The diagnosis of mesothelioma has historically been challenging, especially on serous fluid cytology (SFC). Distinguishing between reactive and neoplastic mesothelial cells can be difficult on cytomorphology alone. However, additional ancillary tests, such as BRCA1 associated protein-1 immunohistochemistry and fluorescence in situ hybridization for cyclin-dependent kinase inhibitor 2A deletion, can provide a sensitive and highly specific method of proving malignancy.

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  • The study investigates how molecular tests, like ThyroSeq v3, can help assess risks of malignancy in indeterminate thyroid cytopathology cases, providing a more accurate risk probability compared to traditional methods.
  • Results showed that molecular-derived risk of malignancy (MDROM) rates for various cytopathologic diagnoses were generally within established reference ranges, but the positive call rates (PCR) varied more significantly among cytopathologists, particularly for atypia of undetermined significance (AUS).
  • The findings suggest that MDROMs and PCRs can serve as valuable metrics for evaluating cytopathologists’ performance and improving overall quality in diagnosing thyroid conditions.
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  • Molecular testing (MT) shows promise as a tool to assess the risk of recurrence in differentiated thyroid carcinoma before starting treatment, in addition to traditional preoperative factors.* -
  • In a study of 945 patients, tumor size emerged as the primary predictor of recurrence, while incorporating MT results improved predictive accuracy in a subset of patients.* -
  • The study found that recurrences were present across all risk categories defined by the American Thyroid Association (ATA) Risk Stratification System (RSS), highlighting the importance of tumor size and MT for predicting disease outcomes.*
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Introduction: Indeterminate thyroid cytology diagnoses are associated with intermediate risks of malignancy. Application of molecular testing (MT) to indeterminate specimens provides additional diagnostic and prognostic information. While a positive or suspicious MT result may prompt surgery, a negative MT result is associated with a low probability of cancer or noninvasive follicular thyroid neoplasm with papillary-like nuclear features and approximates that of a benign cytology diagnosis.

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  • Molecular testing enhances the diagnostic precision for thyroid cancer, prompting a need to explore its links to tumor characteristics and prognostic outcomes.
  • In a study of 578 thyroid cancer patients who underwent genetic testing, cancers were classified into three risk groups: low (49.9%), intermediate (37.5%), and high (12.6%), with a 9.1% recurrence rate observed during a median follow-up of 19 months.
  • Results indicated that higher-risk groups were associated with older age, more aggressive tumor features (like vascular invasion), and significantly greater recurrence likelihood compared to lower-risk groups.
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Background: The American College of Radiology Thyroid Imaging Reporting and Data System for ultrasound classification of malignancy risk was developed to better triage thyroid nodules for fine-needle aspiration biopsy. To examine further, we compared thyroid cytologic classification rates in nodules before and after institutional Thyroid Imaging Reporting and Data System implementation.

Methods: Cytology diagnoses by Bethesda criteria (categories I-VI) from January 2014 to October 2021 were retrieved; observed changes in yearly category frequency were analyzed by linear regression; and pooled cohorts of pre- (2014-2018) and post-Thyroid Imaging Reporting and Data System (2019-2021) cytology call rates were compared.

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  • This study aimed to prospectively evaluate the effectiveness of next-generation sequencing (NGS) on pancreatic cyst fluid in a multi-institutional setting, as previous research had mainly been retrospective or focused on single hospitals.
  • In total, 1933 pancreatic cyst specimens were tested, with 98% being satisfactory for NGS analysis, and findings were correlated with current guidelines and surgical outcomes.
  • Results indicated that mutations such as GNAS had high sensitivity and specificity for diagnosing mucinous cysts and that combining genomic alterations with cytopathologic evaluation significantly improved diagnostic accuracy compared to existing guidelines.
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  • Renal cell carcinoma (RCC) is the leading type of cancer that spreads to the thyroid, making diagnosis challenging due to similar cytological features in thyroid tumors.
  • This study examined the effectiveness of molecular testing for detecting metastatic RCC in fine-needle aspiration (FNA) samples from the thyroid, focusing on VHL gene alterations that are uncommon in primary thyroid cancers.
  • Results showed that 50% of samples had harmful VHL mutations, suggesting that incorporating molecular testing can enhance diagnosis and management of patients with indeterminate thyroid nodules potentially caused by metastatic RCC.
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The diagnosis of "follicular neoplasm" (FN) in thyroid cytopathology has a long history that originated not long after the practice of fine-needle aspiration (FNA) of thyroid nodules. From the outset, this interpretive category was intended to convey a set of differential diagnoses rather than a precise diagnosis, as key diagnostic features, such as capsular and vascular invasion, were not detectable on cytology preparations. Cytologic-histologic correlation studies over the past several decades have shown that FN interpretation can be applied to the spectrum of nonneoplastic tumors to carcinomas.

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  • The study focuses on noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP), which was redefined in 2016, and assesses patients diagnosed during surgery rather than retrospectively like previous studies.
  • A total of 79 patients with a mean age of 51 years were included, the majority being women, and their NIFTP nodules averaged 2.4 cm in size, with many categorized as either TI-RADS 3 or 4 on ultrasound.
  • Molecular testing revealed significant genetic alterations in 93.5% of the nodules, with common mutations and fusions identified, and patients were primarily treated via lobectomy or total thyroidectomy, with close follow-up planned for
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  • Molecular testing, specifically ThyroSeq v3 (TSv3), is utilized to evaluate cancer risk in thyroid nodules with Bethesda V (suspicious for malignancy) fine needle aspiration (FNA) samples, as previous data was limited for this category.
  • In a study of 128 SFM samples, 78.1% were TSv3 positive with a high cancer prevalence of 82.8%, and the test yielded a sensitivity of 89.6% and specificity of 77.3%.
  • Among patients with confirmed cancer, the study found varying levels of risk based on molecular risk groups (MRGs), with higher disease recurrence rates associated with MRG-High tumors during an average follow-up of
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Introduction: Intraprocedural rapid onsite evaluation (ROSE) of cytology specimens enhances cytopathology practice. More recently, ROSE diagnoses, like frozen section (FS) diagnoses, have guided immediate clinical decisions. In this study, we evaluated the diagnostic accuracy of definitive ROSE diagnoses in our quality assurance system over a 52-month period.

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  • The study aimed to assess the performance of cytopathology fellows by comparing internal quantitative metrics from a laboratory information system with external evaluation metrics like ASC PEC and USMLE scores.
  • Over six years, data from 13 fellows showed an average diagnostic concordance rate of 89.9%, with trends indicating that better ASC PEC scores correlated with more accurate diagnoses and lower case volumes, while higher USMLE scores correlated with higher case volumes.
  • Although no statistically significant correlations between metrics were found, the quantitative data provided insights for identifying areas of improvement and facilitating peer comparisons in the fellowship program.
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Background: Some thyroid nodules cytologically presenting as follicular neoplasm, Hürthle cell (Oncocytic) type (FNHCT), are not oncocytic tumors and represent autonomously functioning thyroid nodules (AFTNs) with TSHR, GNAS, and EZH1 mutations or oncocytic metaplasia. A to be defined subset of FNHCT harbors genome haploidisation-type DNA copy number alterations (GH-CNA). Molecular profiling of FNHCT may distinguish oncocytic neoplasms from its mimics.

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  • Hürthle cell carcinoma (HCC) shows significant DNA copy number alterations (CNA) predominantly of genome haploidization type, with a notable occurrence in Hürthle cell adenomas (HCA), while being absent in Hürthle cell hyperplastic nodules (HCHN).* -
  • In a study analyzing FNA samples, 34% of nodules with CNA were found to be malignant, and the likelihood of cancer increased with the size of the nodules, especially in those with GH-type CNA.* -
  • Overall, the presence of CNA, combined with other genetic mutations and nodule size, provides valuable insights for predicting malignancy in thyroid nodules.*
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Background & Aims: The assessment of therapeutic response after neoadjuvant treatment and pancreatectomy for pancreatic ductal adenocarcinoma (PDAC) has been an ongoing challenge. Several limitations have been encountered when employing current grading systems for residual tumor. Considering endoscopic ultrasound (EUS) represents a sensitive imaging technique for PDAC, differences in tumor size between preoperative EUS and postoperative pathology after neoadjuvant therapy were hypothesized to represent an improved marker of treatment response.

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The incidence of thyroid cancer is rising for a variety of reasons. At the same time, the nomenclature revision of non-invasive encapsulated follicular-variant PTC to noninvasive follicular neoplasm with papillary-like nuclear features (NIFTP) has modified the incidence of thyroid cancer. Given that thyroid neoplasia is a molecular event, it is important for the thyroid physician to evaluate each patient systematically.

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  • The objective of the study is to evaluate the effectiveness of molecular testing (MT) in managing fine-needle aspiration (FN) results, specifically to differentiate between benign and potentially aggressive thyroid cancers (TC). Historically, thyroidectomy has been recommended for definitive diagnosis, but the role of MT is under review.
  • Data from 389 patients were analyzed, revealing that MT was performed in 89% of cases, leading to a higher likelihood of thyroidectomy and accurate identification of histologic malignancies when MT results were positive.
  • The study concluded that MT significantly increased cancer detection rates, identified aggressive malignancies effectively, and enabled safe nonoperative surveillance for a majority of patients with negative results, suggesting its integration
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Background: Molecular testing of thyroid nodules with indeterminate fine-needle aspiration (FNA) cytology is commonly used to guide patient management and is typically performed on freshly collected FNA samples. In this study, the authors evaluated the performance of the ThyroSeq test in cytology smear slides.

Methods: Air-dried Diff-Quik (DQ)-stained and alcohol-fixed Papanicolaou (Pap)-stained smears were used to determine required cellularity and sensitivity of mutation detection and to compare ThyroSeq v3 Genomic Classifier (GC) results obtained in cytology smears and fresh FNA samples from the same nodules.

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Introduction: One of the key features of the Bethesda System for Reporting Thyroid Cytopathology is the risk of malignancy (ROM), which guides management for each diagnostic category. However, calculation of the ROM can be challenging for indeterminate diagnoses because only a portion of cases will be resected for cytologic-histologic correlation (CHC) analyses. In the present study, we used the probability of cancer information from ThyroSeq, version 3, reports to calculate the molecular-derived (MD) ROM for indeterminate categories.

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A 16-year-old male with language disorders, such as motor aphasia or mutism, was hospitalized on day 4 after the onset of fever. Magnetic resonance imaging (MRI) on admission revealed lesions of the corpus callosum and brain white matter. Brain single photon emission computed tomography (99mTc-ethyl cysteinate dimer) on day 7 shows hypoperfusion (with right dominance) of bilateral upper parietal region.

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