Rare distant metastases to pancreas, liver, and lung as initial presentation of mixed tall cell and columnar cell variants of papillary thyroid cancer.

Summary: The most common sites of distant metastases of papillary thyroid carcinoma (PTC) are lung and bone. Widespread distant metastases of PTC are rare and associated with poor overall prognosis. Metastases to sites such as liver and pancreas are extremely rare, and literature is sparse on overall survival. In this report, we present a 57-year-old man whose initial presentation of PTC was with pancreatic, liver, and lung metastases, and subsequently developed metastases to bone and brain. He underwent a total thyroidectomy, neck dissection, and tracheal resection. Pathology revealed a predominant columnar cell variant PTC with focal areas of tall cell variant, and genomic sequencing showed both PIK3CA and BRAF gene mutations. Radioactive iodine ablation with I-131 did not show any uptake in metastatic sites and he had progression of the metastases within 6 months. Therefore, therapy with lenvatinib was initiated for radioactive iodine refractory disease. Our patient has tolerated the lenvatinib well, and all his sites of metastases decreased in size. His liver and pancreatic lesions took longer to respond but showed response 6 months after initiation of lenvatinib, and he remains on full dose lenvatinib 18 months into treatment. Learning points: Papillary thyroid carcinoma (PTC) usually metastasizes to lung and bone but can rarely occur in many other sites. Patients with distant metastases have significantly worse long-term prognosis. Lenvatinib can be an effective treatment of radioactive iodine refractory PTC with rare sites of distant metastases. Lenvatinib can be an effective treatment of PTC with BRAF V600E and PIK3CA mutation.

Rate of malignancy for thyroid nodules with AUS/FLUS cytopathology in a tertiary care center - a retrospective cohort study.

BACKGROUND: Thyroid nodules are stratified through fine-needle aspiration (FNA) and are often categorized using The Bethesda System for Reporting Thyroid Cytopathology, which estimates the risk of malignancy for six cytopathological categories. The atypia of undetermined significance (AUS) and follicular lesion of undetermined significance (FLUS) categories have varying malignancy rates reported in the literature which can range from 6 to 72.9%. Due to this heterogeneity, we assessed the malignancy rate and effectiveness of repeat FNA (rFNA) for AUS/FLUS thyroid cytopathology at our institution. METHODS: Electronic health records of patients with AUS/FLUS thyroid cytopathology on FNA at our center since the implementation of the Bethesda System on May 1, 2014-December 31, 2019 were retrospectively reviewed. Patient demographics, treatment pathway, and pathology results were collected. The treatment pathway of the nodules, the rFNA results, and the malignant histopathology results were reported. Malignancy rates were calculated as an upper and lower limit estimate. RESULTS: This study described 182 AUS/FLUS thyroid nodules from 177 patients. In total, 24 thyroid nodules were deemed malignant upon histopathology, yielding a final malignancy rate of 13.2-25.3%. All of the malignancies were variants of papillary thyroid carcinoma. The malignancy rate of the nodules which underwent resection without rFNA (21.5%) was lower than the malignancy rate of the nodules which underwent resection after rFNA (43.8%). 45.5% of the rFNA results were re-classified into more definitive categories. CONCLUSION: The malignancy rate of AUS/FLUS thyroid cytopathology at our center is in line with the risk of malignancy stated by the 2017 Bethesda System. However, our malignancy rate is lower than some other Canadian centers and approximately half of our rFNAs were re-classified, highlighting the importance of establishing center-specific malignancy and rFNA re-classification rates to guide treatment decisions.

Cavernous hemangioma of the adrenal gland mimicking a hepatic hemangioma.

Adrenal cavernous hemangiomas are a rare, benign, and non-functional tumor. We report a case of a 62-year-old male who presented with right upper quadrant and flank pain. Physical examination revealed a fullness of the right upper quadrant. Both computed tomography and magnetic resonance imaging suggested a hemangioma originating from the liver. During angiography with the intent of embolization, it was discovered that the vascular supply was consistent with an adrenal mass rather than a hepatic origin. The patient was referred to Urology and underwent curative right open adrenalectomy and nephrectomy. Histopathology confirmed the diagnosis of an adrenal cavernous hemangioma.

The Value of Next-Generation Sequencing in the Screening and Evaluation of Hematologic Neoplasms in Clinical Practice.

OBJECTIVES: The implementation of next-generation sequencing (NGS) in routine clinical hematology practice remains limited. We evaluate the clinical value of NGS in the screening, diagnosis, and follow-up in hematologic neoplasms. METHODS: A targeted NGS panel was used to assess a total of 178 patients for questionable or previously diagnosed myeloid neoplasms. RESULTS: Gene variants were identified in 53% of patients. Novel variants were identified in 29% of patients and variants of unknown significance in 34%. Bone marrow samples yielded a higher number of variants than in peripheral blood. NGS is a more sensitive test than conventional cytogenetics. In several cases, NGS played a key role in the screening, diagnostics, prognostic stratification, and the clinical follow-up of a wide variety of myeloid neoplasms. CONCLUSIONS: NGS is an effective tool in the evaluation of suspected and confirmed hematologic neoplasms and could become part of the routine workup of patients.

Clinical follow up and the impact of the Paris system in the assessment of patients with atypical urine cytology.

BACKGROUND: Urinary cytology is routinely used in the diagnosis of urothelial neoplasms, with good sensitivity for high-grade urothelial carcinoma (HGUC) but less so for low-grade urothelial neoplasm (LGUN). There is significant interobserver and interinstitutional variability, especially for the atypical category. The Paris system for reporting urinary cytology (TPS) was introduced to better define the various categories, especially atypical cytology. METHODS: We retrospectively reviewed 630 atypia of undetermined significance (AUS) cases and reclassified them based on TPS. In total, 501 cases previously reported as negative for malignancy had their medical records reviewed to serve as negative controls. RESULTS: Of 630 AUS cases, 299 (47.5%) were reclassified as negative for HGUC (NHGUC), 313 (49.7%) as atypical urothelial cells (AUCs) and 18 (2.9%) as suspicious for HGUC (SHGUC). Based on our institution's previous reporting system, the rate of underlying or subsequent HGUC was 2.8% for AUS, and 0% for negative. When AUS cases were reclassified under TPS, the rates were 1.5% for NHGUC, 4.8% for AUC, and 0% for SHGUC. Review of medical records showed that patients with AUS were more likely to be followed-up compared with those with negative urine cytology (77.8% compared with 54.3%), particularly those under the care of non-urologists. CONCLUSIONS: AUS diagnosis is associated with more patient follow up compared with NEG urine particularly among non-urologists. Reclassifying according to TPS results in significant reduction in the rate of AUS and thus unnecessary testing. This reduction however may be at the expense of slightly decreased detection rate of HGUC.

Squamous cell carcinoma of the suprapubic tract: A rare presentation in patients with chronic indwelling urinary catheters.

Squamous cell carcinoma (SCC) of the bladder is uncommon, but can arise in the setting of long-term bladder catheterization and chronic inflammation. SCC can arise primarily from the suprapubic catheter tract, but fewer than 10 such cases have been reported. We document 2 cases of SCC arising from the suprapubic tract associated with chronic indwelling urinary catheters. SCC must be differentiated from granulomatous conditions, which are quite common in patients with suprapubic catheters.

Fine needle aspiration biopsy of primary renal synovial sarcoma. A case report.

BACKGROUND: Primary renal synovial sarcoma is a relatively recently described and characterized neoplasm, formerly designated embryonal sarcoma of the kidney, and has not been diagnosed before by fine needle aspiration biopsy cytology. We describe the cytologic features of a malignant biphasic neoplasm of the kidney that was subsequently diagnosed at nephrectomy and confirmed with molecular genetic analysis as a biphasic renal synovial sarcoma. CASE: A 38-year-old male presented with acute abdominal pain. Computed tomography (CT) demonstrated a 4.7-cm mass in the left kidney. No soft tissue or extrarenal masses were identified. A CT-guided fine needle aspiration biopsy revealed a malignant biphasic tumor characterized by minimally atypical tubular epithelium, immature spindle cells and foci of coagulative tumor necrosis. At nephrectomy, a necrotic, pseudo-encapsulated synovial sarcoma of the upper pole of the left kidney was identified and was additionally evaluated with immunohistochemistry and molecular genetic studies. The case is unique since biphasic synovial sarcomas have yet to be reported to occur in the kidney and fine needle aspiration biopsy findings of this renal neoplasm have never been reported to our knowledge. CONCLUSION: Synovial sarcoma should be a diagnostic consideration particularly in a young adult with a malignant spindle cell neoplasm of the kidney. The list of differential diagnoses should include sarcomatoid renal cell carcinoma, sarcomatoid transitional cell carcinoma of the renal pelvis, angiomyolipoma and monophasic or biphasic synovial sarcoma.