Comparison of Breast Fine-Needle Aspiration Cytology and Tissue Sampling for High-Throughput Proteomic Analysis and Cancer Biomarker Detection.

INTRODUCTION: Fine-needle aspiration cytology (FNAC) specimens are widely utilized for the diagnosis and molecular testing of various cancers. We performed a comparative proteomic analysis of three different sample types, including breast FNAC, core needle biopsy (CNB), and surgical resection tissues. Our goal was to evaluate the suitability of FNAC for in-depth proteomic analysis and for identifying potential therapeutic biomarkers in breast cancer. METHODS: High-throughput proteomic analysis was conducted on matched FNAC, CNB, and surgical resection tissue samples obtained from breast cancer patients. The protein identification, including currently established or promising therapeutic targets, was compared among the three different sample types. Gene Ontology (GO) enrichment analysis was also performed on all matched samples. RESULTS: Compared to tissue samples, FNAC testing revealed a comparable number of proteins (7,179 in FNAC; 7,196 in CNB; and 7,190 in resection samples). Around 85% of proteins were mutually identified in all sample types. FNAC, along with CNB, showed a positive correlation between the number of enrolled tumor cells and identified proteins. In the GO analysis, the FNAC samples demonstrated a higher number of genes for each pathway and GO terms than tissue samples. CCND1, CDK6, HER2, and IGF1R were found in higher quantities in the FNAC compared to tissue samples, while TUBB2A was only detected in the former. CONCLUSION: FNAC is suitable for high-throughput proteomic analysis, in addition to an emerging source that could be used to identify and quantify novel cancer biomarkers.

Thyroid involvement in cystic echinococcosis: a systematic review.

BACKGROUND: Thyroid Hydatid Cyst (THC), a pathological state induced by the larval form of Echinococcus granulosus, represents a multifaceted clinical entity with nonspecific symptoms, making both diagnosis and treatment intricate. The current understanding of THC's attributes is somewhat limited. To gain a broader perspective on the disease's clinical and epidemiological characteristics, we have systematically reviewed the existing literature. METHODS: We performed an extensive review of articles on THC across four key scientific databases: PubMed, Scopus, Web of Science, and Google Scholar. Our study encompassed all patients diagnosed with THC through post-surgical pathology or Fine Needle Aspiration Cytology (FNAC) examinations, extracting clinical, epidemiological, and therapeutic data of THC patients from publications up to October 2023. RESULTS: From 770 articles, 57 met our criteria, detailing 75 THC patients. The gender ratio was 2.36 females per one male. The patients averaged 36.1 years old, with common symptoms including neck mass, hoarseness, shortness of breath, and dysphagia. The left lobe was involved in most patients, and only 21.3% had extrathyroidal involvement. Cysts averaged 36.4 mm in diameter, with cystic nodules being the most frequent imaging finding (91.2%). Serological tests were performed for 42.6% of cases, of which 62.5% were positive. Surgery was undertaken in 71 patients (94.6%). CONCLUSION: Cystic echinococcosis (CE) of the thyroid should be considered as part of the differential diagnosis in patients with cervicofacial mass, especially in endemic countries. The present study provides reliable data to improve our understanding of the features of the disease for a better diagnosis and management.

Impact of fine-needle aspiration cytology in thyroidectomy extent and associated surgical morbidity in thyroid cancer.

PURPOSE: To assess the impact of fine-needle aspiration cytology (FNAC) in the extent of surgery in patients with thyroid cancer (TC) and the associated surgical morbidity in primary and completion setting. METHODS: A Swedish nationwide cohort of patients having surgery for TC (n = 2519) from the Scandinavian Quality Register for Thyroid, Parathyroid and Adrenal surgery between 2004 and 2013 was obtained. Data was validated through scrutinizing FNAC and histology reports. RESULTS: Among the 2519 cases operated for TC, the diagnosis was substantiated and validated through the histology report in 2332 cases (92.6%). Among these, 1679 patients (72%) were female, and the median age at TC diagnosis was 52.3 years (range 18-94.6). Less than total thyroidectomy (LTT) was undertaken in 944 whereas total thyroidectomy (TT) in 1388 cases. The intermediate FNAC categories of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/ FLUS), as well as suspicion for follicular neoplasm (SFN) lesions were more often encountered in LTT (n = 314, 33.3%) than TT (n = 63, 4.6%), whereas FNACs suspicion for malignancy and/or malignancy were overrepresented in TT (n = 963, 69.4%). Completion thyroidectomies were undertaken in 553 patients out of 944 that initially had LTT. In 201 cases with cancer lesions > 1 cm, other than FTC (Follicular TC)/ HTC (Hürthle cell TC) subjected to primary LTT, inadequate procedures were undertaken in 81 due to absent, Bethesda I or II FNAC categories, preoperatively. Complications at completion of surgery in this particular setting were 0.5% for RLN palsy (n = 1) and 1% (n = 2) for hypoparathyroidism 6 months postoperatively. The overall postoperative complication rate was higher in primary TT vs. LTT for RLN palsy (4.8% [n = 67] vs. 2.4% [n = 23]; p = 0.003) and permanent hypoparathyroidism (6.8% [n = 95] vs. 0.8% [n = 8]; p < 0.0001). CONCLUSIONS: FNAC results appear to affect surgical planning in TC as intermediate FNAC categories lead more often to LTT. Overall, inadequate procedures necessitating completion surgery are encountered in up to 15% of TC patients subjected to LTT due to absent, inconclusive, or misleading FNAC, preoperatively. However, completion of thyroidectomy in this setting did not yield significant surgical morbidity. Primary LTT is a safer primary approach compared to TT in respect of RLN palsy and permanent hypoparathyroidism complication rates; therefore, primary TT should probably be reserved for lesions > 1 cm or even larger with suspicion for malignancy or malignant FNAC.

Diagnostic clues and pitfalls in salivary gland fine-needle aspiration cytology.

Salivary gland tumors (SGT) display morphological diversity and pose diagnostic challenges. Preoperative fine needle aspiration cytology (FNAC) is a minimally invasive and efficient diagnostic test. However, due to the limited sample size, the final diagnosis may not be established based on FNAC alone. Although cytomorphology and architecture are usually preserved on FNAC, morphologic changes specific to FNAC can complicate the diagnosis. The Milan System for Reporting Salivary Gland Cytopathology categorizes complex FNAC interpretations. Because the cytological diagnosis is closely linked to the histological diagnosis, a multidimensional approach considering the possibility of several differential diagnoses is necessary. From the standpoint of treatment, distinguishing high-grade malignancy from low-grade malignancy is more important than distinguishing malignancy from benign tumors.

Rare case of stromal predominant Wilm's tumour with rhabdomyoblastic differentiation in FNAC smears.

The FNAC smear and histopathology of stromal predominant Wilm's tumour with rhabdomyoblastic Differentiation along with immunostaining in a 7-year-old male. In this paper, the diagnostic potential of FNAC in identifying rare histological variants of paediatric renal tumours is highlighted.

The Great Impostor: A challenging case of small-cell melanoma with isolated adrenal metastasis.

Small-cell melanoma masquerading as an adrenal non-Hodgkin lymphoma. The index report illustrates the deceptive cytomorphologic features of a small cell type malignant melanoma metastatic to the adrenal gland. The diagnosis was confirmed by performing immunocytochemistry on the cell block sections. The key cytomorphologic mimics and their distinctive features have also been highlighted.

Combined fine needle aspiration cytology and core needle biopsy in the same setting: A two-years' experience.

INTRODUCTION: Fine needle aspiration cytology (FNAC) combined with rapid on-site evaluation (ROSE) and ancillary techniques is an accurate diagnostic tool for many pathologies. However, in some cases, it may not be sufficient for actionable diagnoses or molecular testing, especially for cases that require large immunohistochemical panels or cases in which histological features are mandatory for the diagnosis. Core needle biopsy (CNB), on the contrary, provides samples that are suitable for histological features and sufficient for all ancillary studies. However, CNB is often performed by radiologists or clinicians without the direct participation of cytopathologists, which can lead to missed or delayed diagnoses. This study reports on the experience of combining FNAC and CNB performed in one setting by cytopathologists. The aim was to evaluate the impact of CNB on FNAC and the diagnostic efficiency of the combined procedures. MATERIALS AND METHODS: One hundred forty-two FNAC and CNB procedures performed in the same setting over a period of 2 years were analysed. The FNAC diagnoses were compared and integrated with the subsequent CNB diagnoses. The impact of CNB was categorized as follows: non-contributory, in cases of inadequate samples; confirmed, when the CNB and FNAC diagnoses were the same; improved, when the CNB diagnosis was consistent with the FNAC diagnosis and further specified the corresponding entity; allowed, when CNB produced a diagnosis that could not be reached by FNAC; changed, when the CNB changed the previous FNAC diagnosis. RESULTS: CNB confirmed the FNAC diagnosis in 40.1% of cases (n = 57/142). CNB improved the FNAC diagnosis in 47.2% of cases (n = 67/142). CNB allowed a diagnosis that could not be performed on FNAC in 2.1% of cases (n = 3/142). CNB changed a previous FNAC diagnosis in 2.1% of cases (n = 3/142). CNB was non-contributory in 8.4% of cases (n = 12/142). CNB produced a positive impact on the whole diagnostic procedure in 51.4% of total cases (n = 73/142). The combined FNAC and CNB resulted in actionable diagnoses in 91.5% of all cases (n = 130/142). A complete molecular assessment was successfully performed in 14.7% of cases (n = 21/142) utilizing either FNAC or CNB material. CONCLUSIONS: The combined use of FNAC and CNB in one setting improves the diagnostic accuracy of both procedures. This approach exploits the advantages of each procedure, enhancing the accuracy of the final diagnosis.

All groin swellings are not lipoma.

An interesting case of an abdominal wall swelling near an old operative scar showing epithelial and stromal cells. In this present paper, fine needle aspiration cytology of an inguinal swelling is discussed which may often create diagnostic confusion.

The diagnostic conundrum of hyper eosinophilia-Sheer tenacity of a parasite.

We present an interesting and rare case of Capillaria hepatica infection in a 2-year-old boy, who presented with fever, rash, hepatomegaly and peripheral eosinophilia. FNAC of hepatic lesion showed parasitic eggs and PCR from the aspirate confirmed the diagnosis. We describe the cytomorphological features and provide educational multiple-choice questions related to the topic.

Metastases to the parotid glands: An institutional experience.

BACKGROUND: Metastatic lesions to the salivary gland are rare and mostly affect the parotids. Metastases represent 8% of all malignant lesions of the parotid gland. Around 80% originate from squamous cell carcinomas (SCC) of the head and neck region. Fine needle aspiration (FNA) plays a crucial role in distinguishing primary salivary gland lesions from metastases. Herein we describe our series of metastases to the parotid glands. MATERIALS AND METHODS: We analysed 630 parotid gland FNAs over a decade including conventional and liquid-based cytology specimens. Ancillary techniques such as immunocytochemistry (ICC) were conducted on cell blocks. RESULTS: Eighty (12.4%) cases were malignant lesions, of which 53 (63.75%) were metastases including 24% melanoma, 22.6% SCC, 19% renal carcinomas, 7.5% breast carcinomas, 11.3% lung, 9% intestinal and 1.8% testicular, malignant solitary fibrous tumour and Merkel cell carcinoma. The 53 cases, classified according to the Milan system for salivary cytopathology, belonged to 5 Suspicious for malignancy (SFM) and 48 malignant (M) categories. Forty had a known history of primary malignancy (75.4%), while 13 were suspicious to be a metastatic localisation (24.5%), distributed as 5SFM (2SCC and 3Melanoma) and 8 M. A combination of clinical history, cytomorphology and ICC identified 100% of them. CONCLUSIONS: Fine needle aspiration plays a central role in the diagnostic workup of patients with metastatic lesions to their parotid glands, thereby defining the correct management. Diagnostic accuracy may be enhanced by applying ICC. Although melanoma and SCC are the most common histological types, several other malignancies may also metastasize to the parotid glands and should be kept into consideration.

Some uncommon cystic lesions in the anterior head and neck region: Pitfalls to be avoided on cytology.

Cystic lesions of the anterior head and neck region are a challenging and frequent finding on cytological smears. The scant amount of cellular material in cystic slides poses the greatest difficulty to interpretation, so that frequently they are diagnosed as inadequate or with minimal cellular component. Despite the majority of cystic lesions being benign, a minor portion consist of malignant cystic entities. In these latter cases, the evidence of very scant malignant cells can be misdiagnosed and/or underestimated, leading to a false negative diagnosis. Many papers have already described and detailed the range of possible benign and malignant cystic lesions in head and neck. In the current review we have focused on the less common entities that often lead to serious misinterpretation.

Thyroid US-guided FNA techniques: A prospective,randomized controlled study.

BACKGROUND: Thyroid nodules are common in the general population. Ultrasonography is the most efficient diagnostic approach to evaluate thyroid nodules. The US FNAC procedure can be performed using either the short axis (perpendicular), or a long axis (parallel) approach to visualize the needle as it is advanced toward the desired nodule. The main aim of this study was to compare the percentage of non-diagnostic results between the long and short axis approach. METHODS: A prospective study that included a randomized controlled trial and was divided into two arms-the short axis and the long axis-was conducted. A total of 245 thyroid nodules were collected through the fine needle aspiration cytology, performed with ultrasound, from march 2021 to march 2022. The patient's demographic information were collected and also nodules characteristics. RESULTS: Of 245 nodules sampled, 122 were sampled with the long axis method, while 123 with the short axis method. There is not significantly less non diagnostic approach with either method compared to the other (11.5 % vs 16.3 % respectively). DISCUSSION: Previous studies came to the conclusion that the long axis method yields fewer non diagnostic samples. This study evaluated the two FNA approaches which were proceeded by the same physician who is expert in both techniques. CONCLUSION: The US FNAC performed in the long axis approach will not produce more conclusive results and less non diagnostic results (Bethesda category 1) than the short axis approach one.

Diagnostic Assessment of Endoscopic Ultrasonography-Fine Needle Aspiration Cytology in the Pancreas: A Comparison between Liquid-Based Preparation and Conventional Smear.

Background and Objectives: This study aimed to elucidate the cytologic characteristics and diagnostic usefulness of endoscopic ultrasonography-fine needle aspiration cytology (EUS-FNAC) by comparing it with liquid-based preparation (LBP) and conventional smear (CS) in pancreas. Methods: The diagnostic categories (I through VII) were classified according to the World Health Organization Reporting System for Pancreaticobiliary Cytopathology. Ten cytologic features, including nuclear and additional features, were evaluated in 53 cases subjected to EUS-FNAC. Nuclear features comprised irregular nuclear contours, nuclear enlargement, hypochromatic nuclei with parachromatin clearing, and nucleoli. Additional cellular features included isolated atypical cells, mucinous cytoplasm, drunken honeycomb architecture, mitosis, necrotic background, and cellularity. A decision tree analysis was conducted to assess diagnostic efficacy. Results: The diagnostic concordance rate between LBP and CS was 49.1% (26 out of 53 cases). No significant differences in nuclear features were observed between categories III (atypical), VI (suspicious for malignancy), and VII (malignant). The decision tree analysis of LBP indicated that cases with moderate or high cellularity and mitosis could be considered diagnostic for those exhibiting nuclear atypia. Furthermore, in CS, mitosis, isolated atypical cells, and necrotic background exerted a more significant impact on the diagnosis of EUS-FNAC. Conclusions: Significant parameters for interpreting EUS-FNAC may differ between LBP and CS. While nuclear atypia did not influence the diagnosis of categories III, VI, and VII, other cytopathologic features, such as cellularity, mitosis, and necrotic background, may present challenges in diagnosing EUS-FNAC.

Extragonadal Germ Cell Tumor with Hepatic Infiltration in a Child: Aberrant Somatostatin Receptors and the Diagnostic Conundrum.

Extragonadal germ cell tumors (GCTs) are challenging to diagnose. We present a case of suprarenal GCT, with hepatic infiltration where differential diagnosis included neuroblastoma and hepatoblastoma. The positive positron emission tomography scan further obfuscated the situation. The diagnosis was clinched by fine-needle aspiration cytology and cell block immunohistochemistry.

Diagnostic value and cost-effectiveness of FNA-CT versus FNAC for medullary thyroid carcinoma.

OBJECTIVE: To evaluate the diagnostic performance and cost-effectiveness of calcitonin assays in fine-needle aspiration washout fluid (FNA-CT) compared to fine-needle aspiration cytology (FNAC) for medullary thyroid carcinoma (MTC). METHODS: A total of 27,404 patients from three medical centres between January 2020 and May 2022 were screened for serum calcitonin (sCT). Of whom, 223 patients met endpoints and were enroled for analyses. Based on sCT levels, patients were divided into two groups (group 1: 10 pg/ml< sCT ≤100 pg/ml and group 2: sCT > 100 pg/ml). The diagnostic performance and cost-effectiveness of FNA-CT and FNAC were compared. RESULTS: Most patients (N = 25,228; 92.1%) with thyroid nodules had normal sCT levels. In group 1, 24 and 167 nodules were diagnosed as MTC and non-MTC lesions, respectively. FNA-CT showed better performance in diagnosing MTC than FNAC in terms of sensitivity (100.0% vs. 58.3%), negative predictive value (100.0% vs. 94.3%), and overall accuracy (100.0% vs. 94.7%). In group 2, 67 and 7 nodules were diagnosed as MTC and non-MTC lesions, respectively. The diagnostic performance of FNA-CT was superior to FNAC in terms of sensitivity (100.0% vs. 64.2%), negative predictive value (100.0% vs. 22.6%), and overall accuracy (100.0% vs. 67.6%). Furthermore, analysis from the decision tree model showed that FNA-CT was a cost-effective tool for diagnosing MTC lesions. CONCLUSIONS: FNA-CT can serve as an auxiliary and cost-effective approach for patients with indeterminate sCT levels to detect occult MTC lesions. FNA-CT can be recommended for patients with sCT >100 pg/ml to overcome the high false-negative rate of FNAC.

A case report of anaplastic thyroid carcinoma transformed from small papillary carcinoma successfully detected by ultrasonography in its early stage with review of literature.

An 82-year-old woman was referred to our hospital because of a suspicious thyroid nodule. She was diagnosed with papillary microcarcinoma with a maximum diameter of 9 mm based on ultrasonography and fine-needle aspiration (FNA) cytology. She preferred observation without surgery. Her papillary carcinoma grew gradually and reached a maximum diameter of 19 mm after 23 months. At that time, ultrasonography showed an apparent change in the shape of the nodule as well as in its diameter. At the initial ultrasound examination, papillary microcarcinoma was demonstrated as a hypoechoic solid nodule with an irregular shape. No punctuate microcalcifications were shown. After 23 months, the preexisting nodule had expanded toward the common carotid artery. The expanded portion was round and well demarcated. FNA revealed that the expanded portion consisted of anaplastic thyroid carcinoma. She underwent hemithyroidectomy and lymph node dissection of the central compartment. She remained in good health for 18 months after surgery. Anaplastic thyroid carcinoma is generally found as an aggressive large tumor, and the ultrasound appearance of small anaplastic thyroid carcinoma is poorly understood at present. We successfully detected anaplastic transformation in the early period by ultrasonography and FNA. When observation is indicated for small papillary thyroid carcinoma, the change in the shape of the nodule as well as in its diameter should be carefully monitored by ultrasonography. FNA should be performed at a proper site on the nodule to avoid overlooking anaplastic transformation, as resection following the early detection of anaplastic transformation might bring a favorable prognosis.

CCND2 and miR-206 as potential biomarkers in the clinical diagnosis of thyroid carcinoma by fine-needle aspiration cytology.

BACKGROUND: To investigate the relationship between cyclin D2 (CCND2) and miR-206 expression in fine-needle aspiration cytology of thyroid carcinoma. METHODS: A total of 65 patients with thyroid carcinoma were selected as the subjects and 65 patients with benign thyroid nodules were in control group. The fine-needle aspiration cytology of thyroid nodules was performed. CCND2 and miR-206 levels were detected by PCR. RESULTS: Compared with the patients with benign thyroid nodules, the expression level of miR-206 in fine-needle aspiration cytology of thyroid cancer patients decreased significantly and the expression level of CCND2 increased significantly. CCND2 and miR-206 expression was negatively correlated in thyroid cancer tissues. Area under curve (AUC) of miR-206 level in the diagnosis of thyroid cancer was 0.889, and the sensitivity and specificity were 92.3% and 81.5%, respectively. AUC of CCND2 level in the diagnosis of thyroid cancer was 0.837, and the sensitivity and specificity were 67.7% and 89.2%, respectively. The AUC of combined detection of CCND2 and miR-206 in the diagnosis of thyroid cancer was 0.959, and the sensitivity and specificity were 93.8% and 87.7%, respectively. The levels of miR-206 and CCND2 were significantly correlated with TNM staging and lymph node metastasis. CONCLUSIONS: miR-206 and CCND2 may become new biomarkers for clinical diagnosis of thyroid cancer based on the fine-needle aspiration cytology of thyroid nodules.

Not all black fungus is mucormycosis: A challenging case of Medicopsis romeroi.

In this case of phaeohyphomycosis, fine needle aspiration cytology enabled a rapid diagnosis and prompt treatment. This infection is quite prevalent in immunocompromised individuals; however, the Medicopsis romeroi species is a rare causative agent. These cases are associated with inadequate response to standard antifungal therapy and require discussion.

How do cytopathologists learn fine needle aspiration techniques? An international survey.

INTRODUCTION: Fine needle aspiration cytology (FNAC) is a widely accepted diagnostic technique, but performance varies according to expertise. Little is known about variation in FNAC training practices worldwide. We surveyed pathologists using social media networks to determine FNAC training practices internationally. DESIGN: Pathologists were surveyed on questions related to FNAC simulation training using direct messaging on the Twitter and WhatsApp platforms. Survey responses over a period of 2 weeks were collected. RESULTS: In total, 149 pathologists participated (96.1% response rate). The respondents came from 24 countries and 87 institutions. The majority of the pathologists (63.8%) performed FNAC directly on patients for the first time. Only 36.2% of them had simulation instruction during their training. It was performed on food items such as fruit (64.8%), surgical specimens (37.0%), autopsies (13.0%) and others (9.3%), including commercially available phantom simulators for ultrasound-guided FNAC (US-FNAC) (two pathologists). DISCUSSION: Most pathologists did not receive formal training in a simulated environment, and of the pathologists who had simulation instruction, food items were commonly used for education. A few participants used a commercial US-FNAC simulator, but since most pathologists perform FNAC by palpation, this method of simulation training is not applicable to many practices. Social media is an effective and efficient way to perform survey research, yielding a very high response rate.

Scalp metastasis of pulmonary blastoma-a rare entity: Cytomorphology with differential diagnoses.

BACKGROUND: Pulmonary blastomas are exceptionally rare tumours. These tumours behave aggressively, with a propensity to metastasise to the brain and mediastinum. A definitive diagnosis of pulmonary blastoma is challenging to obtain on cytomorphology alone. CASE REPORT: We herein describe a case of a 59-year-old female who presented with a scalp lesion. The patient was diagnosed to have pulmonary blastoma on histopathology of left lower lobectomy specimen. Fine needle aspiration cytology was done from this recently developed scalp swelling. Cytomorphology supplemented with immunocytochemistry on cell block confirmed the diagnosis of a metastatic pulmonary blastoma. CONCLUSIONS: In a known case of primary pulmonary blastoma, any newly developing lesion at any anatomical site should be carefully evaluated for metastasis. If metastasis is needled and no previous histology is available, it carries a reasonable risk of erroneous interpretation. It is essential not to overlook often subtle biphasic malignant cells on the smears, which otherwise resemble other poorly differentiated tumours. Immunocytochemistry coupled with morphology is confirmatory.