Intrathyroidal thymic carcinoma.

A young woman in her early 30s presented with a right thyroid mass and progressive hoarseness due to a right vocal cord palsy. The preoperative fine-needle aspiration cytology was classified as Bethesda V and she underwent a total thyroidectomy and neck dissection. Intraoperatively, the thyroid mass was adherent to the oesophagus, trachea and encasing the right recurrent laryngeal nerve which was sacrificed. Final histopathology diagnosed a rare subtype of thyroid cancer known as intrathyroidal thymic carcinoma (ITC). She was then sent for adjuvant radiotherapy after a multidisciplinary tumour board discussion. This case report highlights the difficulty in preoperative diagnosis of ITC and the importance of immunohistochemical staining in clinching the diagnosis. In view of its rarity, there have been no published consensus on the treatment of ITC, hence we would like to share some learning points through a comprehensive literature review.

Performance of a multigene genomic classifier and clinical parameters in predicting malignancy in a Southeast Asian cohort of patients with cytologically indeterminate thyroid nodules.

BACKGROUND: Most thyroid nodules are benign. It is important to determine the likelihood of malignancy in such nodules to avoid unnecessary surgery. The primary objective of this study was to characterize the genetic landscape and the performance of a multigene genomic classifier in fine-needle aspiration (FNA) biopsies of cytologically indeterminate thyroid nodules in a Southeast Asian cohort. The secondary objective was to assess the predictive contribution of clinical characteristics to thyroid malignancy. METHODS: This prospective, multicenter, blinded study included 132 patients with 134 nodules. Molecular testing (MT) with ThyroSeq v3 was performed on clinical or ex-vivo FNA samples. Centralized pathology review also was performed. RESULTS: Of 134 nodules, consisting of 61% Bethesda category III, 20% category IV, and 19% category V cytology, and 56% were histologically malignant. ThyroSeq yielded negative results in 37.3% of all FNA samples and in 42% of Bethesda category III-IV cytology nodules. Most positive samples had RAS-like (41.7%), followed by BRAF-like (22.6%), and high-risk (17.9%) alterations. Compared with North American patients, the authors observed a higher proportion of RAS-like mutations, specifically NRAS, in Bethesda categories III and IV and more BRAF-like mutations in Bethesda category III. The test had sensitivity, specificity, negative predictive value, and positive predictive value of 89.6%, 73.7%, 84.0%, and 82.1%, respectively. The risk of malignancy was predicted by positive MT and high-suspicion ultrasound characteristics according to American Thyroid Association criteria. CONCLUSIONS: Even in the current Southeast Asian cohort with nodules that had a high pretest cancer probability, MT could lead to potential avoidance of diagnostic surgery in 42% of patients with Bethesda category III-IV nodules. MT positivity was a stronger predictor of malignancy than clinical parameters.

Omental venous malformation: a rare cause of spontaneous haemoperitoneum.

Spontaneous haemoperitoneum is a rare condition with a variety of aetiologies. Regardless of the cause, it is invariably a life-threatening condition that requires urgent diagnosis and management. The most common causes of spontaneous haemoperitoneum include gynaecological, hepatic, splenic and vascular causes. However, here, we present a rare case of spontaneous haemoperitoneum secondary to idiopathic omental venous malformation.Our patient presented with acute onset of right iliac fossa pain, and a CT scan revealed a massive haemoperitoneum. A laparoscopic converted to open laparotomy was performed to diagnose and treat the patient. We discuss the management approach for such patients with spontaneous haemoperitoneum.

Rare case of pancreatic lipomatous hamartoma.

A middle-aged man had an incidental finding of 10.1 cm lipomatous mass arising from pancreatic body/neck detected on CT scan. He was asymptomatic. He underwent surgical resection of the mass due to concern for malignancy. His postoperative course was complicated by a high-volume pancreatic leak of approximately 900 mL/day. He underwent endoscopic retrograde cholangiopancreatography and insertion of a pancreatic stent, with some improvement in the pancreatic leak. His leak eventually settled after 3 months. The final histopathology showed lobules of mature adipocytes with small islands of disorganised benign pancreatic ducts and acini interspersed within them, suggestive of pancreatic hamartoma of lipomatous variant. Pancreatic lipomatous hamartomas are rare and are often diagnosed on final histopathology when the initial resection was performed due to diagnostic uncertainty or concern for malignancy. It is a benign lesion with an indolent course and must be discriminated from other lipomatous lesions of the pancreas. An awareness of the condition is important to help guide management.

Risk stratification of parotid neoplasms based on intraoperative frozen section and preoperative fine needle aspiration cytology.

PURPOSE: This study aims to determine the relationship of frozen section (FS) to final histology and determine how incorporating FS may change preoperative malignancy risk estimates based on preoperative fine needle aspiration cytology (FNAC). The secondary aim is to determine if FS is useful in influencing intraoperative decision-making. METHODS: Retrospective review of 426 intraoperative FS for parotidectomies performed for primary parotid lesions. RESULTS: Risk of malignancy with a benign FS was 2.5%, with indeterminate 36.1%, and with malignant 100%. Incorporating FS to fine needle aspiration for cytology helped to stratify malignancy risk especially in the Milan categories of atypia of undetermined significance, neoplasm of uncertain malignant potential and non-diagnostic categories, where a malignant FS increased malignancy risk significantly. FS was only able to identify 11% of high-risk histological subtypes for which a neck dissection would be recommended. CONCLUSIONS: FS may be used to stratify malignancy risk intraoperatively but has limited utility in clinical decision-making to perform a neck dissection and more extensive parotid resection in high-risk histological subtypes.

Lymphoepithelial carcinoma of the larynx: an extremely rare tumour in a patient of Chinese descent.

Lymphoepithelial carcinoma (LEC) of the larynx is an extremely rare tumour which, unlike its nasopharyngeal counterpart, has shown a propensity to affect elderly Caucasian men and is not commonly associated with Epstein-Barr virus. We present a 70-year-old Chinese man who complained of hoarseness and dysphagia. Nasoendoscopy revealed a left supraglottic tumour. Preoperative MRI (in particular Diffusion Weighted Imaging) showed the possibility of two distinct components within a tumour. The patient underwent total pharyngolaryngectomy and bilateral selective neck dissection. The final histology report confirmed the presence of a tumour with two distinct components: predominant LEC with a smaller conventional (keratinising) squamous cell carcinoma component. The patient recovered well after surgery and subsequently underwent adjuvant radiotherapy. Final staging was pT3 N2c M0 (AJCC stage IVA). Follow-up over 2 years revealed no tumour recurrence.

Mucoacinar Carcinoma: A Rare Variant of Mucoepidermoid Carcinoma.

Mucoepidermoid carcinoma (MEC) is generally characterized by an admixture of mucous, epidermoid and intermediate type cells. Numerous variants morphologies are described and defined by stromal and/or cytoplasmic tinctorial characteristics. We now report 11 cases of MEC with serous acinar differentiation, reflecting a distal intercalated duct/acinar phenotype, which we designate as mucoacinar carcinomas. Seven patients were female while 4 were male with a mean age of 55 years (range: 21 to 72 y). Ten cases were from the parotid while 1 was from the submandibular gland. Mean size of the tumors was 1.8 cm (range: 0.7 to 4.5 cm). Three cases were low grade, 7 were intermediate grade, and 1 was high grade. Low to intermediate grade cases demonstrated prominent clear to vacuolated cells with focal serous acinar differentiation. The high-grade case showed a distinctive scattering of acinar cells interspersed between epidermoid cells. Periodic acid Schiff after diastase (9/9), SOX-10 (9/9), and DOG-1 (9/10) highlighted the acinar component. Six of 7 cases showed a focal acinar predominant NR4A3 expression. MAML2 fluorescence in situ hybridization was positive in all cases, in both acinar and mucoepidermoid components. Two cases tested by next generation sequencing showed standard CRTC1-MAML2 fusions. MSANTD3 and NR4A3 fluorescence in situ hybridization on the other hand were negative. Evidence thus suggests that mucoacinar carcinoma represents an acinar variant morphology in MEC, rather than a true MEC-acinic cell carcinoma hybrid, or collision tumor. The acinar differentiation, SOX-10, DOG-1, and even focal NR4A3 reactivity may thus be diagnostic pitfalls.

Endocrine mucin-producing sweat gland carcinoma and associated primary cutaneous mucinous carcinoma: Review of the literature.

BACKGROUND: Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare, low-grade, cutaneous adnexal carcinoma with neuroendocrine differentiation. It is considered to be a precursor of invasive neuroendocrine type primary cutaneous mucinous carcinoma (PCMC). OBJECTIVE: To review clinicopathological literature summary of EMPSGC and associated neuroendocrine PCMC from all reported cases and compare its behavior vs non-neuroendocrine PCMC data reported in the literature. METHODS: A review of English literature of all EMPSGC cases with and without associated PCMC was carried out. RESULTS: EMPSGC was associated with invasive neuroendocrine type PCMC in 35.7% of cases. We found the recurrence rate of PCMC associated with EMPSGC of about 12.3%, which is much less than the 30% recurrence rate reported for the non-neuroendocrine subtype of PCMC. The non-neuroendocrine subtype of PCMC shows a 4% and 11% rate of distant and lymph node metastasis, respectively, vs EMPSGC-associated neuroendocrine type of PCMC, which is very indolent and only one recent case of locoregional metastasis out of 190 EMPSGC cases has been reported so far. LIMITATION: Limitation of our study includes data derivation from case reports and case series in the literature. CONCLUSION: The prognostic benefits for this cohort of patients may be considered in their overall management.

Noninvasive follicular thyroid neoplasm with papillary-like nuclear features and the risk of malignancy in thyroid cytology: Data from Singapore.

INTRODUCTION: The impact of noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) on the risk of malignancy (ROM) in fine-needle aspiration cytology (FNAC) per The Bethesda System for Reporting Thyroid Cytopathology has not been well reported in Singapore. METHODS: We retrospectively identified 821 thyroid nodules with preoperative FNAC from 788 patients out of 1,279 consecutive thyroidectomies performed between January 2010 and August 2016 in a tertiary general hospital in Singapore. Possible cases of NIFTP were reviewed for reclassification and the impact of NIFTP on ROM was analysed. RESULTS: The incidence of NIFTP was 1.2% (10 out of 821). If NIFTP is considered benign, ROM in Bethesda I through VI were 8.6%, 3.5%, 26.3%, 20.0%, 87.7%, 97.0% versus 8.6%, 4.2%, 28.1%, 26.7%, 89.2% and 100% if NIFTP is considered malignant. Eight patients with NIFTP had follow-up of 15 to 110 months. One had possible rib metastasis as evidenced by I131 uptake but remained free of structural or biochemical disease during a follow-up period of 110 months. None had lymph node metastasis at presentation, nor locoregional or distant recurrence. CONCLUSION: Classifying NIFTP as benign decreased ROM in Bethesda II through VI, but the benignity of NIFTP requires more prospective studies to ascertain. The impact of NIFTP on ROM in our institution also appears to be lower than that reported in the Western studies.

Insights into the molecular pathogenesis of ocular tuberculosis.

Unclear pathogenic mechanisms underlying the ocular tuberculosis (OTB) has resulted in perplexity related to the diagnosis and management of the disease. Developments in experimental research and innovations in molecular diagnostics have recently provided a new understanding of disease pathogenesis and natural history. The current review focuses on the new insights into OTB pathogenesis, derived from in vivo and in vitro studies on Mycobacterium tuberculosis dissemination and localization into the eye, in combination with histopathological studies on chorioretinal tissue and vascular network. Advances in the knowledge of OTB have influenced disease management in the clinical setting and lead to reconsideration of the role of existing treatments and suggesting potential new therapeutic approaches.