Project description:Background Black thyroid is a rare incidental finding during surgery. We report the case of a patient with papillary thyroid cancer who was incidentally found to have minocycline-induced black thyroid. Case Description A 29-year-old woman presented with a left thyroid nodule and metastatic papillary thyroid cancer involving the left neck level IV lymph nodes. She had a medical history of anxiety disorder with depression, severe acne, and rosacea, and had been taking benzodiazepines, selective serotonin reuptake inhibitors, isotretinoin, and minocycline for a few years. The patient underwent a total thyroidectomy with left central compartment neck dissection and ipsilateral modified radical neck dissection. A black thyroid gland was identified during thyroidectomy. During level IV dissection, we noticed a similar black discoloration in the adipose tissue of the lower neck. Pathological examination revealed brown pigmentation with few macrophages on several foci of the thyroid parenchyma. Brown pigmentation was not identified in the thyroid tumor, metastatic and normal lymph nodes, or background adipose tissue. Conclusions We report a case of papillary thyroid microcarcinoma with cervical lymph node metastases in a black thyroid. The clinical findings were consistent with those of previous reports. Based on the literature, it remains unclear if this minocycline triggered finding is associated with an increased frequency and/or aggressiveness of thyroid carcinomas. In the absence of adequate evidence, prolonged minocycline users should ideally undergo routine thyroid assessment to identify possible malignancy.
Project description:BackgroundDistant metastasis (DM) of papillary thyroid cancer (PTC) is rare but significantly associated with decreased survival. Accurate clinical staging at initial diagnosis and during follow-up is essential.Case descriptionWe report the case of a 38-year-old woman diagnosed with PTC in the left isthmus who presented with a suspicious uterine cervix metastasis during follow-up after total thyroidectomy. She had neither medical history nor family history of thyroid cancer. During surgery, extensive central node metastases were found, and bilateral total thyroidectomy was performed. Even after three rounds of radioactive iodine (RAI) ablation, persistently elevated serum thyroglobulin (Tg) levels, combined with a suspicious finding on the whole-body scan (WBS) and fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT), led to the clinical suspicion of uterine cervix metastasis from PTC. Hysterectomy confirmed the pathology of chronic cervicitis. No hidden malignancy was observed. After surgery, negative imaging findings and decreased serum Tg levels were observed.ConclusionsThis case contributes to the discussion of differential diagnostic problems in the setting of clinical and pathological investigations of PTC. However, based on the relevant rationales, through multidisciplinary discussion, this patient can ultimately obtain a better prognosis. Understanding the pitfalls of imaging modalities and continuous efforts to overcome the limitations of the diagnostic process are crucial for future treatment.
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
Project description:Malignant struma ovarii (MSO) with synchronous primary thyroid cancer in the neck is extremely rare and lacks a treatment consensus. A 44-year-old woman presenting with a left ovarian cyst was admitted to Peking Union Medical College Hospital (Beijing, China) Ultrasonography showed a 6 cm solid-cystic left ovarian mass with plentiful blood signals. Other notable findings were an elevated CA125 level and a suspected malignant thyroid nodule. A unilateral salpingo-oophorectomy (USO) was conducted, and the surgical pathology was papillary thyroid cancer (PTC) arising in a struma ovarii. The patient underwent a total thyroidectomy and cervical lymph node dissection, and the pathology of the right lobe nodule was follicular-variant PTC without capsule invasion or lymph node metastasis (5 mm; pT1aN0M0). No further adjuvant therapy was administered. The serum thyroglobulin value was normal before surgery and was undetectable after thyroidectomy. During regular follow-up examinations over 4 years, the patient remained well with no evidence of disease (NED). In a literature review, another 13 cases of MSO coexisting with cervical thyroid cancer that had reported outcomes were found. The MSO was confined to the ovary in all cases. A total of nine patients received radioiodine therapy (RAI) treatment after total thyroidectomy. Two patients relapsed and were successfully cured with RAI after the initial surgery Only one patient died due to another disease, while 11 patients showed NED and the remaining patient was alive with the disease after a median follow-up time of 2 years. This data suggests that USO with personalized RAI may be a preferred option for MSO confined to the ovary plus synchronous primary thyroid cancer due to the conferred satisfactory prognosis.
Project description:BackgroundPapillary carcinoma is the most common differentiated malignant thyroid neoplasm. The biological course of this cancer is typically indolent with a protracted clinical course. Metastases commonly occur in regional lymph nodes, and distant metastasis is a late and rare occurrence. We report a patient who presented with cerebellar metastasis prior to the diagnosis of papillary thyroid carcinoma and review the literature of brain metastasis from papillary thyroid carcinoma.ResultsA 75-year old female presented at the emergency room with progressive dizziness, headache and vomiting, where a brain CT and MRI showed a posterior cerebellar tumor. Surgical resection revealed papillary carcinoma consistent with thyroid origin. Subsequent ultrasound and CT-scan revealed a thyroid nodule, after which the patient underwent total thyroidectomy. Pathologic evaluation was consistent with papillary thyroid carcinoma.ConclusionBrain metastasis may rarely be the initial presentation of papillary thyroid carcinoma. Solitary brain metastasis can completely be resected with better prognosis.
Project description:Pseudocirrhosis is a rare form of liver disease that can cause clinical symptoms and radiographic signs of cirrhosis; however, its histologic features suggest a distinct pathologic process. In the setting of cancer, hepatic metastases and systemic chemotherapy are suspected causes of pseudocirrhosis. Here, we present a patient with medullary thyroid carcinoma metastatic to the liver who developed pseudocirrhosis while on maintenance sunitinib after receiving 5-fluorouracil, leucovorin, and oxaliplatin (folfox) in combination with sunitinib. Cirrhotic change in liver morphology was accompanied by diffusely infiltrative carcinomatous disease resembling the primary tumor. We discuss the diagnosis of pseudocirrhosis in this case and review the literature regarding pseudocirrhosis in cancer.
Project description:Metastasis to the jaws is a rare event; however, it has great importance because it may be the only symptom of an undiagnosed underlying malignancy. Papillary thyroid carcinoma, the commonest histopathologic variant of thyroid cancer, has minimal potential for distant metastasis, and most reported metastatic thyroid carcinomas of the oral cavity have been follicular thyroid carcinoma. The aim of this article is to present a rare case of metastatic papillary thyroid carcinoma, which presented itself as a painless expansion in the anterior region of the mandible in a 56-year-old female, and to review previously published cases of this type of cancer. Reporting rare cases such as this one, together with reviewing previous reports of related rare diseases, will expand the body of knowledge about these uncommon lesions.
Project description:Synchronous parathyroid and papillary thyroid carcinoma are extremely rare. To our knowledge, only 15 cases have been reported in the last four decades. We describe a 50-year-old female without significant past medical or family history and no previous trauma presented with left heel pain that prompted her to seek medical attention. Physical examination was notable for a painless nodule at the left thyroid lobe. Laboratory evaluation showed a serum calcium level of 14.3?mg/dL (8.6-10.3?mg/dL) and intact parathyroid hormone level of 1160?pg/mL (12-88?pg/mL). 99Tc-sestamibi dual-phase with single-photon emission computed tomography fused images showed increased uptake at the left-sided inferior parathyroid gland. Neck ultrasound showed a 1.4?cm heterogeneous nodule in the middle-third of the left thyroid gland and a solitary 1.9?cm vascularized and hypoechoic oval nodule that was considered likely to represent a parathyroid adenoma. Due to its clinical context (severe hypercalcemia and very high levels of PTH), parathyroid carcinoma (PC) was suspected although imaging studies were not characteristic. The patient underwent en bloc resection of the parathyroid mass and left thyroid lobe and central neck compartment dissection. Pathology analysis revealed classical papillary thyroid carcinoma of classical subtype and parathyroid carcinoma. Immunohistochemical staining was positive for cyclidin D1 and negative for parafibromin. High clinical suspicion is required for parathyroid carcinoma diagnosis in the presence of very high level of parathyroid hormone, marked hypercalcemia, and the existence of any thyroid nodule should be approached and the coexistence of other carcinomas should be considered.
Project description:IntroductionHyperfunctioning papillary thyroid carcinoma (PTC) is rare and consequently, little information on its molecular etiology is available. Although BRAF V600E (BRAF c.1799T>A, p.V600E) is a prominent oncogene in PTC, its mutation has not yet been reported in hyperfunctioning PTC.Case presentationUltrasonography detected a 26-mm nodule in the right lobe of the thyroid gland of a 48-year-old man. Thyroid function tests indicated that he was hyperthyroid with a TSH level of 0.01 mIU/L (reference range: 0.05-5.00) and a free thyroxine level of 23.2 pmol/L (reference range: 11.6-21.9). TSHR autoantibodies were <0.8 IU/L (reference value: <2.0 IU/L). The 99mTc thyroid scintigram revealed a round, right-sided focus of tracer uptake by the nodule with a decreased uptake in the remainder of the gland. The patient underwent total thyroidectomy because fine-needle aspiration cytology revealed a malignancy. The histopathological diagnosis was conventional PTC. Subsequent mutational analysis of BRAF (exon 15), TSHR (exons 1-10), GNAS (exons 7-10), EZH1 (exon 16), KRAS, NRAS, HRAS (codons 12, 13, and 61), and TERT promoter (C250T and C228T) identified a heterozygous point mutation in BRAF V600E in a tumor tissue sample. In addition, we identified a TSHR D727E polymorphism (TSHR c.2181C>G, p.D727E) in both the tumor and the surrounding normal thyroid tissue.Discussion and conclusionsWe report a case of hyperfunctioning PTC with a BRAF V600E mutation for the first time. Our literature search yielded 16 cases of hyperfunctioning thyroid carcinoma in which a mutational analysis was conducted. We identified TSHR mutations in 13 of these cases. One case revealed a combination of TSHR and KRAS mutations; the other case revealed a TSHR mutation with a PAX8/PPARG rearrangement. These findings suggest that the concomitant activation of oncogenes (in addition to constitutive activation of the TSHR-cyclic AMP cascade) are associated with the malignant phenotype in hyperfunctioning thyroid nodules.