Suspicion Of Malignancy Research Articles

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

PurposeTo 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.MethodsA 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.ResultsAmong 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).ConclusionsFNAC 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.

Incidental gall bladder carcinoma after cholecystectomy for benign disease: An institutional experience

Cholecystectomy is the most common routinely performed procedure for benign gallbladder disease worldwide and incidental gall bladder cancer is mostly detected in post-cholecystectomy specimens.This retrospective study emphasizes on the need for routine surveillance of post-cholecystectomy specimens by evaluating the incidence of incidental findings of carcinoma in cholecystectomy specimens done for benign gallbladder disease.A total of 2443 patients were evaluated over a period of 7 years, out of which, 18 patients were diagnosed with incidental gall bladder carcinoma with an incidence of 0.73 %. The mean age of affected patients was 59 years. Among the 18 patients, 8 patients (44 %) had an intra-operative suspicion of malignancy. Once incidental cancer is detected the treatment decision should be decided according to tumor spread and depth as well as the patient's age, additional health problems, and life expectancy.

Do we recognize oral cancer? Primary professional delay in diagnosis of oral squamous cell carcinoma.

The occurrence and causes of primary professional delay in diagnosis of oral squamous cell carcinoma (OSCC) were examined. Factors related to initial diagnosis or malignancy suspicion were evaluated in patients with primary OSCC. The outcome variable was primary professional delay for missed suspicion of malignancy or wrong diagnosis or delayed referral. The primary predictor variable was active care-seeking. Secondary predictor variables were patients' symptoms and clinical findings. Primary professional delay was found in 9.5% of the 528 patients included. Professional delay was 6.6 times more likely to occur in patients actively seeking care than in those whose tumor was an incidental finding (95% CI 1.58-27.58, p = 0.010). Pain (OR = 2.0, 95% CI 1.07-3.87, p = 0.031), ulceration (OR = 2.3, 95% CI 1.29-4.19, p = 0.005), denture fit problem (OR = 3.1, 95% CI 1.25-7.56, p = 0.014), and unhealed tooth extraction socket (OR = 29.6, 95% CI 8.89-98.71, p < 0.001) were significant predictors for primary professional delay. OSCC patients seek care actively. Primary professional delay affects the care of every tenth OSCC patient. The role of health care professionals is essential for early OSCC diagnosis, especially in urgent care. Clinicians' knowledge of the typical symptoms and findings of OSCC should be improved.

The Diagnostic Value of microRNA Expression Analysis in Detecting Intraductal Papillomas in Patients with Pathological Nipple Discharge.

Patients with pathological nipple discharge (PND) often undergo local surgical procedures because standard radiologic imaging fails to identify the underlying cause. MicroRNA (MiRNA) expression analysis of nipple fluid holds potential for distinguishing between breast diseases. This study aimed to compare miRNA expression levels between nipple fluids from patients with PND to identify possible relevant miRNAs that could differentiate between intraductal papillomas and no abnormalities in the breast tissue. Nipple fluid samples from patients with PND without radiological and pathological suspicion for malignancy who underwent a ductoscopy procedure were analyzed. We used univariate and multivariate regression analyses to identify nipple fluid miRNAs differing between pathologically confirmed papillomas and breast tissue without abnormalities. A total of 27 nipple fluid samples from patients with PND were included for miRNA expression analysis. Out of the 22 miRNAs examined, only miR-145-5p was significantly differentially expressed (upregulated) in nipple fluid from patients with an intraductal papilloma compared to patients showing no breast abnormalities (OR 4.76, p = 0.046), with a diagnostic accuracy of 92%. miR-145-5p expression in nipple fluid differs for intraductal papillomas and breast tissue without abnormalities and, therefore, has potential as a diagnostic marker to signal presence of papillomas in PND patients. However, further refinement and validation in clinical trials are necessary to establish its clinical applicability.

Assessment of Diagnostic Accuracy of Digital Breast Tomosynthesis in Distinguishing Malignant and Benign Breast Lesions

Objective: The study aims to determine the diagnostic accuracy of digital breast tomosynthesis in diagnosing malignant and benign lesions, keeping histopathology as the gold standard.Study Design: Cross-sectional study.Place and Duration of Study: The study was carried out at the Department of Diagnostic Radiology, POF th th Hospital, Wah Cantt, Pakistan over a period of six months from 11th July 2021 to 11th January 2022.Methods: A total of 200 women presenting with suspicion of breast malignancy were selected consecutively from the outpatient department, and Digital Breast Tomosynthesis(DBT) was performed, followed by a biopsy of the specimen to confirm the findings on histopathology. Results: The average age of the sample was 48.3 + 7.1 years, ranging between 35 and 60 years. Palpable breast lump was recorded in 44.5%, pain in 33%, and nipple discharge in 35.5%. Family history of breast Ca was present in 25.5. On Digital Breast Tomosynthesis (DBT), 58.5% of lesions were labeled as malignant, while 53.5% were labeled as malignant on follow-up histopathology. On applying the formulae for calculation, the sensitivity of DBT was found to be 86% and specificity 73.1%. The positive predictive value of the DBT is 78.6%, and the negative predictive value is 81.9%.Conclusion: In conclusion, Digital Breast Tomosynthesisis a significantly sensitive and specific tool for detecting malignant breast lesions in women suspected of breast carcinoma.How to cite this: Afzal K, Gul N, Mehmood K, Jawwad S, Iqbal B. Assessment of Diagnostic Accuracy of Digital Breast Tomosynthesis in Distinguishing Malignant and Benign Breast Lesions. Life and Science. 2024; 5(1): 3-8. doi: http://doi.org/10.37185/LnS.1.1.416&#x0D;

Warthin-like variant of papillary thyroid carcinoma with lymph node metastases: a case report and review of the literature

BackgroundWe present a rare case of thyroid lesion marked as the Warthin-like variant of papillary thyroid carcinoma (WLV-PTC) with lymph node metastases. A proper preoperative identification is difficult because of unspecific cytology features and common ultrasound characteristics of this malignant tumor. The long-term prognosis cannot be thoroughly described due to the scarcity of data. The purpose of the presentation is to show common characteristics and long-term survival rates of an uncommon variant of differentiated thyroid cancer (DTC). Therefore, the data represented in this article can make a significant contribution to future investigations.Case presentationA 40-year-old Ukrainian woman had a lesion in the thyroid gland, which was accidentally diagnosed during medical checkup. Ultrasound (US) features were similar to the common suspicious nodule. It had typical signs of suspicion for malignancy (TI-RADS-4) on the background of thyroiditis. A thorough investigation of the neck showed lymph nodes with nonspecific US features on both lateral compartments. Lymph nodes were hypoechoic, oval-shaped and 10 mm wide, with regular contours, low central vascularity, with preserving hilar fat, without cystic formation. The patient did not have any complaints or changes in the hormone status. No hereditary findings linked with cancer were discovered. The woman had been living for a long time in the country with a high level of insolation, which was atypical for the ordinary environment of the patient. Fine-needle aspiration (FNA) of the lesion was done and the Bethesda system 6 result was obtained. Total thyroidectomy with central lymph node dissection was accomplished. The histological conclusion was WLV-PTC on the background of lymphocytic infiltration of the gland with metastasis to the lymph nodes. The inpatient radioactive iodine (RAI) ablation (100 mCi) was subsequently performed. Hormone withdrawal was used followed by RAI. In one year after the surgery the level of thyroglobulin (Tg) was 0.2 ng/ml. Up to the present time the five-year follow-up has not demonstrated any signs of recurrence relying on a level of Tg (< 0.04 ng/ml), Tg antibodies (< 14 IU/ml), neck US without any structural disease.ConclusionWLV-PTC resembles salivary gland tumors with similar histological features. This variant is not well known, but often associated with a stroma lymphocytic infiltration and a low risk of lymph node metastases. It is regarded that this rare subtype has similar long-term survival rates as classic papillary thyroid cancer (PTC).

Comparing ultrasound to fine needle aspiration in differentiating between benign and malignant thyroid masses

Introduction: Due to the possibility of malignancy of thyroid nodules, it is necessary to identify the type of thyroid nodule to choose the most accurate treatment possible. Objectives: Considering that there is no standard diagnostic method for masses with intermediate suspicion of malignancy, the present study was conducted to investigate the diagnostic value of ultrasound in differentiating between benign and malignant thyroid masses compared with fine needle aspiration (FNA). Patients and Methods: In this cross-sectional study, 150 patients who had been referred to an endocrinologist’s office in Bandar Abbas with a complaint of thyroid mass in 2019-2020 and had undergone ultrasound and FNA were included in the study by census. After obtaining their informed consent, the patient’s information was collected by reviewing their ultrasound and FNA reports and analyzed with descriptive and analytical tests in SPSS software version 26. Results: The sensitivity and specificity of ultrasound in detecting malignant and benign masses were 56.25% and 85.07%, respectively. The positive and negative predictive values of ultrasound were 60% and 98.27%, respectively. The number of malignant FNA reports was significantly higher in the intermediate suspicion category of patients than in patients with ultrasound results showing high suspicion of malignancy. Conclusion: Performing further diagnostic measures such as FNA and core needle biopsy after noticing an intermediate suspicion in a patient’s ultrasound seems necessary.

P-85 Inflammatory myofibroblastic tumor: An extremely rare tumor of the thyroid gland poses challenges in diagnosis and management

Abstract Introduction Inflammatory myofibroblastic tumor (IMT) is an exceedingly rare mesenchymal tumor characterized by myofibroblastic spindle cells and an inflammatory cell infiltrate. The clinical presentation of IMT in the thyroid gland varies widely, ranging from an asymptomatic thyroid nodule to a diffuse, rigid, fixed, and painful mass. While IMT of the thyroid gland is generally considered a benign borderline tumor with very low metastatic potential, its diagnosis and management can be intricate. Surgery remains the preferred treatment, with recurrence being rare following successful removal. Nonetheless, the optimal management of residual tumors is contentious and may involve a second surgery or the use of immunosuppressants and chemotherapeutic agents. Clinical Case A 47-year-old female patient presented with painless discomfort and stiffness around the thyroid gland. A neck ultrasound revealed a hypoechoic nodule measuring 21×12 mm on the left lobe and a hypoisoechoic heterogeneous nodule 35×28 mm in size on the right lobe of the thyroid gland. These nodules displayed low vascularity, and no pathologic lymph nodes were detected. Fine needle aspiration biopsies (FNABs) were performed on the nodules in both lobes at different times, indicating thyroiditis in the right lobe and spindle-shaped cells with atypia of uncertain significance in the left lobe. Subsequent evaluation of FNAB materials at a referral center suggested a high suspicion of lymphoid malignancy. The patient underwent thyroidectomy; however, the surgeon chose to preserve the left thyroid lobe due to its extreme fibrotic and stone-like consistency, thereby preserving recurrent laryngeal nerve function. Histological analysis confirmed the presence of an inflammatory myofibroblastic tumor characterized by spindle cells accompanied by abundant histocytes, plasma cells, and lymphocytes. The tumor cells exhibited positivity for SMA. Postoperative ultrasound revealed a residual tumor approximately 2 cm in size located in the left isthmus and adjacent left lobe, which remained stable over a 6-month follow-up period. Conclusion Our case highlights the potential for misdiagnosing IMT of the thyroid gland as malignant thyroid tumors. Furthermore, the management of a residual tumor presents a complex clinical challenge. The surgical team is reluctant to pursue a second surgery due to potential risks to recurrent laryngeal nerve function. In this session, we aim to solicit expert opinions and engage in interactive discussions regarding the management of the residual tumor in this specific case.

Advancing Uterine Cancer Care: Transvaginal Ultrasonography in Preoperative Staging Analysis

Objective: To determine the role of transvaginal ultrasonography in the preoperative staging of uterine cancer. Methods: The research included 110 women who had been diagnosed with endometrial malignancy by histological confirmation, whichwas achieved through procedures such as dilation and curettage, hysteroscopy, or endometrial biopsy. Additionally, women who had ahigh suspicion of endometrial malignancy based on imaging results and were scheduled for surgery as their main therapy were alsoeligible to participate in the study. Results: A total of 110 individuals satisfied the criteria for inclusion in the research, with an average age of 49.89 ± 2.99 years. In relation to the extent of myometrial invasion, our study yielded sensitivity rates of 81%, 81%, and 69% for the subjective, Gordon, and Karlssontechniques, respectively. The corresponding specificity rates were found to be 67%, 60%, and 81% for the same approaches. The subjective, Gordon, and Karlsson techniques yielded corresponding overall accuracies of 74%, 70%, and 75%. The use of contrast-enhanced MRI yielded a sensitivity, specificity, and overall accuracy of 94%, 72%, and 84%, respectively, in the assessment of myometrial invasion. In the assessment of cervical stromal invasion, the ultrasound subjective technique showed a sensitivity of 33% and a specificity of 99%. On the other hand, the objective method yielded a sensitivity of 52% and a specificity of 92%. The total accuracy for both methods was determined to be 90% and 83% respectively. The use of contrast-enhanced MRI yielded a sensitivity, specificity, and overall accuracy of 69%, 100%, and 96% respectively in detecting cervical involvement. Conclusion: We concluded that the utilisation of pelvic ultrasound in the preoperative staging of endometrial cancer holds significantvalue. It demonstrates a notable sensitivity in evaluating myometrial invasion, exhibiting a reasonable to moderate level of concordancewith MRI. Furthermore, it exhibits a superior, albeit still moderate, level of agreement with MRI in assessing cervical invasion.

Papillary carcinoma arising in a throglosal cyst with no associated thyroid lesion: An unusual case

ABSTRACT Introduction: Thyroglossal cyst is the most common development anomaly of thyroid gland as well as it represents the most common congenital neck mass. Thyroglossal duct associated malignancy is very rare, and majority is papillary carcinoma. Case: A 21-year-old female presented with a painless midline neck swelling. There are no complaints of difficulty in swallowing, breathing, or voice changes. Ultrasonography revealed a multiloculated cystic lesion in midline neck region. The patient underwent Sistrunk procedure. Histopathology revealed foci of papillary carcinoma in association with thyroglossal duct cyst. Discussion: Thyroglossal duct cyst remains the most common anomaly of thyroid development. It is also the most common congenital neck swelling. The malignancy associated with thyroglossal duct cyst is very rare. Suspicion of malignancy may arise when the cyst appears irregular, hard, and fixed. Conclusion: In our case, the presence of papillary structures in thyroglossal duct support the diagnosis of papillary carcinoma arising from thyroglossal duct rather than a secondary tumor or metastasis from other organs such as thyroid gland. A diagnosis of papillary carcinoma in a thyroglossal duct cyst requires comprehensive surgical management and vigilant follow-up.

Comparison of Cryobiopsy and Forceps Biopsy in Suspected Lung Carcinoma Patients with Endobronchial Lesions: A Cross-sectional Study

Introduction: Forceps Biopsy (FB) is usually used to obtain tissue in endobronchial lesions through a flexible bronchoscope. The mean diagnostic rate of bronchoscopic FB is 74% in central tumours. A limitation of FB is the small tissue size and the occurrence of crush artifacts. In contrast, Cryobiopsy (CB) provides larger samples without such artifacts, which are crucial for accurate histopathological diagnoses. Aim: To compare the efficacy and safety of CB with FB in endobronchial mass lesions suspected of lung cancer. Materials and Methods: A cross-sectional study was conducted on suspected endobronchial mass lesions with suspicion of malignancy from October 2015 to March 2017. About 35 patients fulfilling the inclusion criteria were enrolled, and five of these 35 patients were excluded as they were diagnosed with benign lesions. Among these 30 patients, a flexible biopsy was obtained first followed by CB using the same endobronchial cryobiopsy. Data were analysed in terms of tissue viability, mean tissue size, diagnostic yield, complications, and histological diagnosis. Parameters were compared using the Chi-square test (χ2 test) and Fisher’s exact test. Results: The mean age of the study participants was 58.33±10.12 years. The mean±SD size (diameter) of tissue obtained by CB (0.73±0.47 cm) was higher than that of FB (0.23±0.08 cm) (p-value&lt;0.001). The diagnostic yield obtained by CB was 96.7% compared to 70% in FB (p-value&lt;0.005). Mild bleeding was seen in 86.7% of the CB group and in 60% of the FB group (p-value=0.019). None of the patients in the study experienced moderate or severe bleeding. Conclusion: CB emerges as a safe and dependable method, offering superior diagnostic outcomes compared to conventional FB with its capability to obtain larger biopsy samples and goodquality tissue while minimal bleeding. CB stands as a viable alternative to FB.

The Results of Patients with Histopathological Diagnosed Xanthogranulomatous Cholecystitis, a Single-Center Experience

Objective: Xanthogranulomatous cholecystitis (XGC) is a rare and benign gallbladder disorder. Unnecessary or additional surgical interventions were reported secondary to extended inflammation or suspicion of malignancy. This study aimed to examine patients diagnosed with XGC in our clinic. Materials and Methods: The data of patients were recruited who underwent cholecystectomy and diagnosed with XGC. We excluded patients with no radiologic examination, accompanying pancreas, biliary tree, and hepatic cancer. We recruited the data of patients' demographics, clinical symptoms, imaging studies, characteristics of surgery, and postoperative outcomes. Results: The mean age was 57 ±19.1 years, and there were 12 (31%) females. Abdominal pain was found in 38 (97%) patients as a significant complaint. Elective and emergent cholecystectomy were performed in 18 (46%) and 21 (54%) patients, respectively. Open surgery was performed on 17 (44%) patients, and laparoscopic surgery on 22 (56%). The surgery was completed as laparoscopic in 17 (77%) patients. According to radiologic examinations, suspicious gallbladder malignancy was reported in 4 (10%), 8 (20%), and 4 (10%) patients with USG, CT, and MRI, respectively. There was 1 (3%) patient diagnosed with XGC by USG, 4 (10%) by CT, and 1 (3%) by MRI. Common bile duct (CBD) stone was observed in 10 (26%) of 39 patients. Conversion to open surgery was found in 5 (13%) patients. Intraoperative frozen section analysis was performed in 8 (20%) patients. Extended surgery was performed to 7 (17%) patients. Conclusion: Preoperative diagnosis and surgical management of XGC can be challenging. If a surgeon has suspicion of XGC in preoperative period, expert radiologist opinion should be asked, and they should always keep in mind to perform frozen-section examination.

Low-grade Appendiceal Mucinous Neoplasm Masquerading as Acute Appendicitis: A Case Report

Appendiceal mucinous neoplasms, particularly Low-grade Appendiceal Mucinous Neoplasms (LAMN), are rare but important diagnostic entities as they are potential causes of a surgical abdomen. The clinical manifestations of this lesion are obscure and ill-defined, and these lesions are commonly misdiagnosed as acute appendicitis, adnexal masses, or retroperitoneal tumours. This lesion can rupture and seed mucin and neoplastic epithelium into the peritoneum, leading to Pseudomyxoma Peritonei (PMP), a serious complication with a high morbidity and mortality rate. Therefore, timely identification and treatment of LAMN are crucial for reducing the risk of PMP and improving prognosis and outcomes. Ultrasonography (USG) and Computed Tomography (CT) scans are useful methods for diagnosis; however, the diagnosis is often incidental or found intraoperatively during resection for suspected acute appendicitis. Clinical awareness of the misleading presentations of LAMN should be present in cases of a surgical acute abdomen to prevent performing a dissimilar treatment intervention. Considering the rarity of this lesion and its varied presentation, it is important to study and document this type of neoplasia in the literature. Hereby, authors report a rare case of LAMN in a 33-year-old male patient with a primary diagnosis of acute appendicitis. This case highlights the importance of having a high index of clinical suspicion of appendiceal malignancy and mucocele rupture in patients planned for appendectomy. This also emphasises the fact that all excised appendicectomy tissues should be sent for histopathological examination as they can harbor pathological changes like LAMN.

Thymic mucosa-associated lymphoid tissue lymphoma in a patient with Sjögren’s syndrome with cutaneous vasculitis

Introduction. The association between Sj?gren?s syndrome (SS) and the development of lymphoma is well known. The prevalence of lymphoma in patients with SS is 5%. Mucosa-associated lymphoid tissue (MALT) lymphoma is the most common lymphoma type in patients with SS. It is common for MALT lymphoma to develop in the stomach, while it is extremely rare in the thymus. Case report. We present a 61-year-old Caucasian male patient with primary SS, cutaneous vasculitis, and thymic MALT lymphoma. The patient had a two-year history of diffuse cutaneous palpable purpura on legs, intermittently enlarged left parotid gland, and dry mouth. The results of Schirmer?s test were positive, labial salivary glands biopsy revealed a focus score ? 1, serology testing showed positive anti-Ro/SS-A and anti- La/SS-B antibodies, while skin biopsy findings revealed leukocytoclastic vasculitis. Diagnosis of primary SS with extraglandular cutaneous manifestations was confirmed. Cryoglobulinemia (Cg) and monoclonal gammopathy (MG) were detected, which increased the suspicion of hematological malignancy, and additional diagnostic procedures were performed. Computed tomography of the chest revealed an enlarged, multicystically altered anterior mediastinal mass. A thymectomy was performed through video-assisted thoracic surgery. Histological findings of the tissue confirmed the presence of tumor tissue consistent with MALT lymphoma in the thymus. Induction therapy with pulse doses of glucocorticoids was applied for three days, which was continued with medium doses of the drug. The doses were gradually reduced, and hydroxychloroquine was introduced. This has shown to be an effective therapy against features of SS. Postoperative local radiotherapy was performed. Conclusion. In SS patients with CV and in the presence of Cg and MG, attention should also be paid to the eventual development of MALT lymphoma, including the rare localization in the thymus.

Thyroid nodules and the risk of cancer based on fine-needle aspiration using Bethesda classification in Riyadh, Saudi Arabia

Background: The presence of thyroid nodules is common and can only be diagnosed through radiographic examination. Fine needle aspiration is an essential technique to identify the type of nodules and their malignancy categorization. This study aims to evaluate the effectiveness of the Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) method in the Security Force Hospital, Riyadh, Saudi Arabia, and to estimate the frequency of Bethesda categorization in reporting fine needle aspiration sampling and predicting the malignancy risk in Riyadh. Methods: This is a retrospective chart review that included records of patients with sonographic thyroid nodules and an indicator for fine needle aspiration based on the American Thyroid Association guideline recommendations. The results of FNA were then classified based on the Bethesda system. Data analysis was executed through the Statistical Package for the Social Sciences (SPSS) version 26. Results: This study included 519 patients over three years. The average age was 49.71±12.4. 74.4% were asymptomatic, 50.7% had a thyroid nodule, while 33.9% had a multinodular goiter. 30.6% of the nodules had a size between 1 to 1.49 cm. 42% had smooth borders. The nodules most commonly had a low suspicion of malignancy by sonography, and 22.7% of the patients underwent thyroid surgery; of them, 54.2% had malignancy. Higher Bethesda classes and a sonographic pattern of intermediate suspicion were common predictors associated with a significantly higher risk of malignancy (p-value &amp;lt; 0.001). Conclusion: Thyroid malignancy is commonly detected by thyroid surgery; the use of Bethesda classification is a predictor of thyroid malignancy, and its application in Saudi hospitals should be improved.

Unilateral Hypertrophy of the Tensor Fascia Lata

Unilateral Hypertrophy of the Tensor Fascia Lata

Silent choker: Unveiling tracheal stenosis as an atypical manifestation of mucormycosis.

Airway mucormycosis is a fatal opportunistic infection typically seen in immunocompromised individuals. In this case report, we present an unusual instance of tracheal stenosis in a patient with diabetes mellitus who had recently recovered from coronavirus 2019 (COVID-19). Our patient was a 69-year-old male with poorly controlled type-II diabetes mellitus, on oral hypoglycemic agents, who had successfully completed treatment for COVID-19. Approximately one month later, he developed a cough, fever and breathlessness. Several factors, including advanced age, history of smoking and tobacco chewing, the nodular appearance of the trachea on bronchoscopy, hypermetabolic wall of the trachea on positron emission tomography scan and dysplasia on biopsy, initially raised suspicion of malignancy. However, repeated biopsies from multiple sites confirmed the diagnosis of tracheal mucormycosis. The patient was treated with amphotericin-B and posaconazole. We extensively reviewed the literature and found only 14 reported cases to discuss compared to ours.

Complexity of diagnosis and management of a giant thyroid nodule: A case report and a concise literature.

It is crucial for doctors to decide whether a thyroid nodule is benign or malignant when a patient presents with one, as it will significantly impact how the patient is managed in the future. However, it is not as straightforward to determine between the two; even a physical examination, thyroid function test, ultrasonography, and biopsy have been well performed. It can be more stressful if a patient has an increased risk of malignancy, such as age (below 20- and above 60-year-old), solid nodule, rapid growth, hoarseness, lymphadenopathy, and microcalcifications on the ultrasonography. The aim of this case was to present the management of a giant thyroid nodule with malignancy presentation and a benign biopsy finding. A 41-year-old male complained of a palpable neck mass, hoarseness, and dysphagia. The thyroid function test was normal. Ultrasonography revealed suspicion of malignancy with category 4 of American College of Radiology-Thyroid Imaging Reporting and Data System (ACR-TIRADS). The biopsy revealed follicular neoplasm, and was classified as Bethesda IV. The patient underwent a total thyroidectomy due to the large tumor size and symptoms. Histopathological findings post-surgery revealed a follicular thyroid adenoma. This case highlights a complex diagnosis and management of follicular thyroid neoplasm due to their potential for both benign and malignant. Comprehensive pre- and post-operative care is essential to determine the nature of nodules. Post-operative follow-up care might improve the patient's outcome and prevent complications.

Periocular Sebaceous Carcinoma: A Case Audit from the National Specialist Ophthalmic Pathology Service in Liverpool from 2009 to 2022 to Assess the Diagnostic Utility of PRAME Expression

Introduction: Periocular sebaceous carcinoma (PSC) remains a common diagnostic pitfall both clinically and histomorphologically. PRAME (preferentially expressed antigen in melanoma) has been studied in the various neoplasms as proposed as diagnostic and therapeutic markers. PRAME is expressed in normal sebaceous units and in some sebaceous lesions; however, its utility in sebaceous carcinoma diagnosis has not yet been extensively investigated. We conducted a 13-year retrospective review of the patients diagnosed with PSC at the National Specialist Ophthalmic Pathology Service in Liverpool. Herein, we report the histomorphological and immunohistochemical (IHC) features of these tumors, particularly PRAME expression in this cohort. Methods: Thirty-one PSC cases diagnosed between 2009 and 2022 were retrieved from the histopathology archives. Twenty cases diagnosed as invasive PSC and 11 cases with in situ PSC were included. The hematoxylin and eosin (H&E) slides and previously performed IHC slides were reviewed; clinical information data were obtained. Cases with an adequate tissue were also stained for PRAME (preferentially expressed antigen in melanoma) and adipophilin (if not already performed). Results: In total, there were 24 females and 7 males diagnosed with PSC, ranging from 55 to 90 years (median, 78 years). The types of specimens received were 11 conjunctival mapping biopsies, 19 excisions/wedge resections, and 1 orbital exenteration. The eyelid was the commonest site involved (n = 24), followed by eyelid with conjunctiva (3), and conjunctiva alone (4). All patients presented with the clinical suspicion of malignancy. Histologically, 11 invasive PSC (55%) exhibited poorly differentiated morphology, composed of predominantly atypical basaloid cells with minimal sebocytic differentiation; 9 cases (45%) were moderately differentiated with noticeable finely multivacuolated cytoplasm; and 3 (15%) showed associated comedo necrosis. Most invasive PSC showed moderate-to-brisk mitotic activities. Of those cases with available immunostains (n = 31), 25 (80.6%) expressed adipophilin; 18 (58.1%) Ber-EP4; 14 (45.2%) epithelial membrane antigen (EMA); and 5 (16.1%) both androgen receptor and perforin positivity. PRAME expression was seen in normal sebaceous glands; however, only (5/19; 26%) of invasive PSC showed focal weak-to-moderate PRAME positivity, and mostly in moderately differentiated tumors. None of the in situ PSCs were PRAME-positive. Conclusions: Most PSCs are moderate-to-poorly differentiated. Although PRAME is expressed in normal sebaceous units, it appears less useful as diagnostic marker for PSC, especially in poorly differentiated tumors. In difficult cases, panels of IHC studies (adipophilin, Ber-EP4, and EMA) achieve a definitive diagnosis.

Involvement of the JAK-STAT Pathway in the Molecular Landscape of Fusion-Free Myeloid Neoplasms with Eosinophilia

Introduction. Gene fusions leading to the constitutive activation of tyrosine kinases (TK) such as PDGFRA, PDGFRB or FGFR1 have been the first recurrent genetic defects involved in myeloid hypereosinophilic syndromes (HES). Although activation of the Janus kinase (JAK)/Signal Transducer and Activator of Transcription(STAT) pathway is critical for eosinophil production and survival, genes involved in the JAK/STAT pathway are not included in most next-generation sequencing (NGS) panels used for the etiological workup of hypereosinophilia (HE). Methods. A custom 149-gene NGS panel including subunits of the IL3/IL5/GM-CSF receptors, TK ( PDGFRA/B, FGFR1, ABL1, FLT3, KIT), intracellular proteins of the JAK-STAT and RAS-MAPK pathways was performed in 64 consecutive adult patients (experimental group) referred between March 2012 to June 2023 to the French Reference Center for Hypereosinophilic Syndromes (CEREO) for HE/HES displaying at least one clinic-biological feature suggestive of myeloid neoplasm ( i.e. splenomegaly, other unexplained CBC abnormality besides HE, increased serum tryptase and/or vitamin B12 levels, corticosteroid-refractory HE and/or sensitivity to either TK inhibitors or JAK inhibitors). All of them were negative by PCR and/or FISH analyses for gene rearrangements involving PDGFRA, PDGFRB or FGFR1. Patients with lymphocytic HES (n=7), idiopathic HES (n=26) and HE of undetermined significance (n=11) were used as controls (total, n=44). Results. Concordant with the latest recommendations of the international cooperative working group on eosinophil-associated disorders, at least one mutation was reported in 50/64 (78%) patients of the experimental group versus 8/44 (18%) patients in the control group (p&amp;lt;0.001) when applying a threshold of at least 3% of variant allele frequency (VAF). Mutations in the control group implied genes involved in age-related clonal hematopoiesis ( e.g. DNMT3A, TET2), with low VAF in almost all cases. All 35 patients with at least one mutation involving the JAK/STAT pathway belonged to the experimental group, among whom all 22 patients treated with steroids were refractory to therapy. Eighteen patients had STAT5B mutations, including 13 (72%) with the somatic N642H mutational hotspot. Two patients harbored JAK2Ex13InDel mutations, including one with eosinophilia and erythrocytosis. Previously unreported molecular alterations were also evidenced, including seven patients with JAK1 mutations and three STAT5A-mutated patients who shared common features i.e. the co-occurrence of BCOR mutations, high hemoglobin levels and eosinophil hyperplasia. Of note, the latter mutations were not reported both in a public database (GnomAD) as well as in a second cohort of 613 samples referred for suspicion of myeloid malignancies (yet without HE) studied with the same NGS workflow, thereby strongly supporting their association with myeloid HES. Deciphering the data from bulk sequencing also suggests that JAK-STAT mutations were frequently preceded by (or associated with) myelodysplasia-related gene mutations, with SF3B1 (12/36) and ASXL1 (10/36) mutations being the most common. Overall, both KIT D816V (n=2) and RAS/MAPK pathway activation mutations (n=3) were rare. No mutation of either PDGFRA/B, FGFR1 or IL3/IL5/GM-CSF-receptor genes was evidenced.In the experimental group, 17/18 (94%) patients (including 12 with JAK-STAT mutations) treated with ruxolitinib and with &amp;gt; 3 months of follow-up responded to treatment (12 complete and 5 partial hematological responses). Discussion. These dataemphasize the usefulness of NGS in daily practice for the workup of fusion-free HES patients harboring features suggestive of myeloid neoplasms. In such patients, druggable mutations involving the JAK-STAT pathway (including yet unidentified STAT5A mutations) are frequent. Most JAK/STAT mutations occur in the setting of a preexisting myelodysplastic or myelodysplastic/myeloproliferative disease harboring mutations in RNA-splicing genes or chromatin modifiers. These findings provide a rationale for refining treatment algorithms in fusion-free myeloid HES patients, supporting the use of JAK inhibitors as frontline therapy. More data are warranted to assess whether JAK inhibition enables sustained molecular remission in all disease subtypes.