Papillary thyroid carcinoma occurring with undifferentiated pleomorphic sarcoma: A case report.

BACKGROUND: Papillary thyroid cancer (PTC) is the most common malignant tumor of the thyroid. However, the coexistence of PTC and sarcoma in one patient is rare. In this article, we report the case of a patient who presented with both PTC and undifferentiated pleomorphic sarcoma (UPS), which has not been previously reported in the online Medline database (PubMed). CASE SUMMARY: A 71-year-old man was admitted to our hospital for a mass on the right side of his neck for one month, which rapidly enlarged within 2 wk with distending pain. The patient was diagnosed with a thyroid malignancy by fine-needle aspiration and underwent total thyroidectomy and bilateral central lymph node dissection. Histology and immunohistochemistry revealed features of both PTC and UPS. The thyroid cancer 8 gene detection kit results showed BRAF and telomerase reverse transcriptase mutations. The disease progressed rapidly, and the patient died four months after surgery from extensive lung metastasis. CONCLUSION: Our report highlights the patient's pathological characteristics and related genetic mutations. Due to the rapid development and poor prognosis of cooccurring PTC and sarcoma, it is important for clinical physicians and pathologists to raise awareness of this type of tumor.

Detection of BRAF V600E in Fine-Needle Aspiration Samples of Thyroid Nodules by Droplet Digital PCR.

Background: BRAF exon 15 p.V600E (BRAF V600E) mutation has been established as an important molecular marker for papillary thyroid carcinoma diagnosis by ultrasound-guided fine-needle aspiration biopsy (FNAB). Sanger sequencing is the gold standard for detecting BRAF V600E mutations but fails to identify low-frequency mutations. However, droplet digital PCR (ddPCR) is a popular new method for detecting low-frequency mutations. Here, we compare the efficiency of droplet digital PCR (ddPCR) and Sanger sequencing for detection of the BRAF V600E mutation in thyroid fine-needle aspiration (FNA) samples. Methods: Thyroid fine-needle aspiration samples from 278 patients with 310 thyroid nodules were collected. Sanger sequencing and ddPCR were conducted to detect the BRAF V600E mutation. Results: The BRAF V600E mutation was found in 94 nodules (30.32%) by ddPCR and 40 nodules (12.90%) by Sanger sequencing in 310 FNA samples. A total of 119 nodules were confirmed PTC by postsurgical pathology. Among which the BRAF mutation was found in 80 (67.23%) nodules by ddPCR and 31 (26.05%) by Sanger sequencing. All nodules carrying the mutation detected by Sanger sequencing (SS+) were verified by ddPCR (ddPCR+). Also, all nodules with no mutation detected by ddPCR were interpreted as wild-type by Sanger sequencing (SS-). In addition. Almost all SS+/ddPCR + nodules (95.00%; 38/40) and SS-/ddPCR + nodules (100.00%; 54/54) displayed a BRAF mutation rate of >5% and <15%, respectively, indicating easy misdetection by Sanger sequencing when the mutation rate is between 5 and 15%. Conclusion: ddPCR has higher sensitivity than Sanger sequencing and we propose ddPCR as a supplement to Sanger sequencing in molecular testing of BRAF using FNAB samples.

Lymphocyte infiltration and thyrocyte destruction are driven by stromal and immune cell components in Hashimoto's thyroiditis.

Hashimoto's thyroiditis (HT) is the most common autoimmune disease characterized by lymphocytic infiltration and thyrocyte destruction. Dissection of the interaction between the thyroidal stromal microenvironment and the infiltrating immune cells might lead to a better understanding of HT pathogenesis. Here we show, using single-cell RNA-sequencing, that three thyroidal stromal cell subsets, ACKR1+ endothelial cells and CCL21+ myofibroblasts and CCL21+ fibroblasts, contribute to the thyroidal tissue microenvironment in HT. These cell types occupy distinct histological locations within the thyroid gland. Our experiments suggest that they might facilitate lymphocyte trafficking from the blood to thyroid tissues, and T cell zone CCL21+ fibroblasts may also promote the formation of tertiary lymphoid organs characteristic to HT. Our study also demonstrates the presence of inflammatory macrophages and dendritic cells expressing high levels of IL-1ß in the thyroid, which may contribute to thyrocyte destruction in HT patients. Our findings thus provide a deeper insight into the cellular interactions that might prompt the pathogenesis of HT.

Treatment of leiomyomatosis peritonealis disseminata with goserelin acetate: A case report and review of the literature.

BACKGROUND: Leiomyomatosis peritonealis disseminata (LPD) is a rare condition characterized by multiple pelvic and abdominal nodules, which are composed of smooth-muscle cells. To date, no more than 200 cases have been reported. The diagnosis of LPD is difficult and there are no guidelines on the treatment of LPD. Currently, surgical excision is the mainstay. However, hormone blockade therapy can be an alternative choice. CASE SUMMARY: A 33-year-old female patient with abdominal discomfort and palpable abdominal masses was admitted to our hospital. She had undergone four surgeries related to uterine leiomyoma in the past 8 years. Computed tomography revealed multiple nodules scattered within the abdominal wall and peritoneal cavity. Her symptoms and the result of the core-needle biopsy were consistent with LPD. The patient refused surgery and was then treated with tamoxifen, ulipristal acetate (a selective progesterone receptor modulator), and goserelin acetate (a gonadotropin-releasing hormone agonist). Both tamoxifen and ulipristal acetate were not effective in controlling the disease progression. However, the patient achieved an excellent response when goserelin acetate was attempted with relieved syndromes and obvious shrinkage of nodules. The largest nodule showed a 25% decrease in the sum of the longest diameters from pretreatment to posttreatment. Up to now, 2 years have elapsed and the patient remains asymptomatic and there is no development of further nodules. CONCLUSION: Goserelin acetate is effective for the management of LPD. The long-term use of goserelin acetate is thought to be safe and effective. Hormone blockade therapy can replace repeated surgical excision in recurrent patients.

A five-gene panel refines differential diagnosis of thyroid nodules.

BACKGROUND: Molecular testing for oncogenic mutations in fine-needle aspiration has showed high predictive value in identifying malignant lesions from thyroid nodules with indeterminate cytology. METHODS: To figure out an efficient and economical gene panel for most medical institutions in China, we designed a five-gene panel including BRAF/NRAS/KRAS/HRAS/TERT genes and conducted a retrospective study to evaluate the role of this five-gene diagnostic panel in differential diagnosis of thyroid nodules. RESULTS: A total of 665 patients with 695 thyroid nodules were investigated in the current study. The fine-needle aspiration biopsy and surgically separated thyroid tissue specimens were harvested to test BRAF, TERT, NRAS, KRAS, and HRAS mutations. We identified 261 mutations in 665 patients, including 177 V600E mutations in BRAF. Three hundred and sixty-nine patients who underwent thyroid surgery after completion of the initial clinical and cytological evaluation were enrolled in the final analysis. The diagnostic sensitivity, specificity, and accuracy of the combination of FNAB cytology and five-gene detection were 74.7%, 93.8%, and 84.8%, respectively. BRAF V600E and five-gene panel could recognize 46.4% and 53.6% of papillary thyroid carcinoma in the patients with cytologically indeterminate nodules. CONCLUSION: The five-gene panel can effectively improve the sensitivity, negative predictive value, and accuracy of fine-needle aspiration biopsy cytology, especially in the patients with cytologically indeterminate nodules.

Residual tumor and central lymph node metastasis after thermal ablation of papillary thyroid carcinoma: A case report and review of literature.

BACKGROUND: Debate exists regarding the use of thermal ablation (TA) to treat papillary thyroid carcinoma (PTC). Some studies have recommended TA as a new, efficient and safe technology for PTC. In this article, we report one case of a residual tumor and central lymph node metastasis (CLNM) after TA for PTC. CASE SUMMARY: A 63-year-old female underwent bilateral ultrasound (US)-guided radiofrequency ablation for PTC. Three months later, she was diagnosed as thyroid cancer with suspected CLNM by US and contrast-enhanced computed tomography. The subsequent fine-needle aspiration (FNA) biopsies were negative. Due to her strong personal preference, she underwent total thyroidectomy and central lymph node dissection. Local tissue adhesion and a difficult dissection were noted during the operation. The pathology of the frozen sections during the operation was still negative. The final pathology results of paraffin-embedded sections revealed residual tumor cells at the edge of the PTC and CLNM. CONCLUSION: TA may lead to a residual tumor in patients with PTC. Follow-up using US and FNA biopsy may not be adequate to evaluate the residual tumor. TA should be carefully considered in PTC treatment.

Sagliker syndrome: A case report of a rare manifestation of uncontrolled secondary hyperparathyroidism in chronic renal failure.

BACKGROUND: Sagliker syndrome (SS) resulting from uncontrolled secondary hyperparathyroidism (SHPT) in chronic renal failure (CRF) is seldom reported. CASE SUMMARY: A 24-year-old woman presented with asymmetric facial deformity and stature shortening. She was diagnosed with SS, SHPT, CRF, and thyroid cancer. The patient underwent a total parathyroidectomy and thyroidectomy with central lymph node dissection. The patient's condition was stable and was discharged from the hospital. CONCLUSION: Undergoing dialysis vintage, presenting high serum phosphate levels, and female gender may be risk factors for SS. Intramembranous ossification in the craniomaxillofacial region is possibly activated in this special pathophysiological condition. What's more, the choice of surgery mainly depends on the treatment goal and the experience of the individual surgeon.

Multiple synchronous anorectal melanomas with different colors: A case report.

BACKGROUND: Anorectal melanoma (AM) is an extremely rare malignant tumor originating from anorectal melanocytes with a poor prognosis. AM has been reported to have a much lower incidence than cutaneous or choroid melanoma, accounting for 0.4%-1.6% of all melanomas. CASE SUMMARY: We report a 76-year-old female patient diagnosed with anorectal malignant melanoma by colonoscopy and biopsy. Intraoperative examination revealed two distinct anorectal tumors, one melanotic and another amelanotic, as well as two pigmented mucosal zones at the dentate line level. Abdominal perineal resection was performed. A pathological report confirmed all four lesions to be melanomas. Postoperatively, we followed an immunotherapy protocol targeting PD-1 (nivolumab). The patient had 24 mo of disease-free follow-up upon completion of nivolumab treatment. CONCLUSION: This is the first reported case presenting coexistence of pigmented and unpigmented AMs in the same patient.

Genistein inhibits invasive potential of human hepatocellular carcinoma by altering cell cycle, apoptosis, and angiogenesis.

AIM: To study the in vitro and in vivo inhibitory effects of genistein on invasive potential of Bel 7402 hepatocellular carcinoma (HCC) cells and to explore the underlying mechanism. METHODS: Bel 7402 HCC cells were exposed to genistein. The invasive activity of tumor cells was assayed in transwell cell culture chamber. p125FAK expression and cell cycle were evaluated by a functional assay. Cell apoptosis analysis was performed with TUNEL method. In addition, bilateral subrenal capsule xenograft transplantation of HCC was performed in 10 nude mice. Genistein was injected and the invasion of HCC into the renal parenchyma was observed. Microvessels with immunohistochemical staining were detected. RESULTS: Genistein significantly inhibited the growth of Bel 7402 cells, the inhibitory rate of tumor cells was 26-42%. The invasive potential of Bel 7402 cells in vitro was significantly inhibited, the inhibitory rate was 11-28%. Genistein caused G2/M cell cycle arrest, S phase decreased significantly. The occurrence of apoptosis in genistein group increased significantly. The expression of p125FAK in 5 microg/mL genistein group (15.26+/-0.16%) and 10 microg/mL genistein group (12.89+/-0.36%) was significantly lower than that in the control group (19.75+/-1.12%, P<0.05). Tumor growth in genistein-treated nude mice was significantly retarded in comparison to control mice, the inhibitory rate of tumor growth was about 20%. Genistein also significantly inhibited the invasion of Bel 7402 cells into the renal parenchyma of nude mice with xenograft transplant. The positive unit value of microvessels in genistein-treated group (10.422+/-0.807) was significantly lower than that in control group (22.330+/-5.696, P<0.01). CONCLUSION: Genistein can effectively inhibit the invasive potential of Bel 7402 HCC cells by altering cell cycle, apoptosis and angiogenesis, inhibition of focal adhesion kinase may play a significant role in this process.