Hepatopulmonary metastases from papillary thyroid microcarcinoma: A case report.

BACKGROUND: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. Papillary thyroid microcarcinoma (PTMC) accounts for the majority of PTC cases. However, concurrent pulmonary and hepatic metastases of PTMC are rarely seen. Here, we present a patient with coexisting liver and lung metastases from PTMC. CASE SUMMARY: We describe a 26-year-old woman with PTMC with multiple concurrent metastases. After 3 d of unexplained fever, she was admitted to our hospital. Her thyroid functional tests were abnormal. Her positron emission tomography (PET)/magnetic resonance imaging (MRI) examination showed increased fluorodeoxyglucose (FDG) metabolism and space-occupying lesions in the left lobe of the thyroid. Additionally, PET/MRI images revealed multiple nodules in the lung and liver with increased FDG metabolism. Chest computer tomography (CT) showed multiple pulmonary metastases. Abdominal ultrasound and liver MRI showed multiple space-occupying lesions in the liver. The patient underwent total thyroidectomy and central lymph node dissection. Postoperative pathological analysis showed a papillary microcarcinoma multiplex in the left lobe of the thyroid. A diagnosis of hepatopulmonary metastases from papillary thyroid microcarcinoma was made. The patient was given iodine-131 treatment one year after the surgery. She recovered well after the operation, and the incision healed well. After discharge, she was treated with oral levothyroxine sodium tablets, and symptomatic and supportive treatments were also given to promote radioactive excretion and prevent bone marrow suppression by iodine-131 treatment. CONCLUSION: Since patients with thyroid cancer concurrent with hepatopulmonary metastases have rarely been reported, our case will highlight the clinical and pathological profiles of these patients.

Oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor of the femur: A case report.

BACKGROUND: Oncogenic osteomalacia caused by phosphaturic mesenchymal tumors is very difficult to detect. We report a case of tumor-induced osteomalacia caused by a phosphaturic mesenchymal tumor of the left femur in a middle-aged woman after medical imaging and biopsy. CASE SUMMARY: A 57-year-old woman presented with progressive bone pain for five years. She was diagnosed with hypophosphatemic osteomalacia, as her laboratory data showed low serum phosphorus and low serum calcium. Her knee joint radiography revealed an osteolytic lesion of the left femur. A computed tomography scan showed mixed density shadows in the left femur. Magnetic resonance imaging of the left femur showed the presence of an oval area with a hypointense signal in T1-weighted magnetic resonance imaging (MRI) and high-low mixed signal in T2-weighted MRI. Biopsy samples revealed the presence of short spindle cells, vascularization, and characteristics of phosphaturic mesenchymal tumors. Tumor resection was performed, and the clinical presentations and laboratory abnormalities were reversed. CONCLUSION: Diagnosis of oncogenic osteomalacia is difficult due to the varieties and localization of source tumors and absence of pathognomonic biomedical signs. Our case highlights the importance of a combination of medical imaging and biopsy in the diagnosis of oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor.

Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.

OBJECTIVE: The spectrum of UDP-glucuronyl transferase A1 (UGT1A1) variants in hereditary unconjugated hyperbilirubinemia varies markedly between different ethnic populations. This study evaluated the UGT1A1 genotypes in hyperbilirubinemia patients from southeastern China. METHODS: We enrolled 60 patients from southeastern China (44 men and 16 women; age range: 3-76 years) with unconjugated hyperbilirubinemia and performed genetic analysis of the UGT1A1 gene by direct sequencing. RESULTS: For patients with Gilbert syndrome, 85% (47/55) harbored pathogenic variants of UGT1A1⁎60. Both UGT1A1⁎28 and UGT1A1⁎81 were detected in the promoter region of UGT1A1. Additionally, 83% (20/24) of patients with Gilbert syndrome heterozygous for UGT1A1⁎60 had an association with heterozygous variation of UGT1A1⁎28 or UGT1A1⁎81, while 91% (21/23) of Gilbert syndrome patients homozygous for UGT1A1⁎60 had biallelic variations of UGT1A1⁎28 and UGT1A1⁎81. We detected 213 UGT1A1 allelic variants, including six novel variations, with the most frequent allele being the UGT1A1⁎60, followed by UGT1A1⁎28 and UGT1A1⁎6. All of the patients showed multiple sites of variants in UGT1A1; however, variation number was not associated with bilirubin levels (P>0.05). CONCLUSIONS: The spectrum of UGT1A1 variants in southeastern Chinese patients was distinct from other ethnic populations. Our findings broaden the knowledge concerning traits associated with UGT1A1 variants and help profile genotype-phenotype correlations in hyperbilirubinemia patients.

Wnt/ß-catenin signaling was activated in supporting cells during exposure of the zebrafish lateral line to cisplatin.

Zebrafish lateral line neuromasts are composed of central hair cells surrounded by supporting cells. Cisplatin is a common anticancer drug, with hair cell disruption being a frequent side effect of this drug. In our study, we observed complete functional hair cell loss after six hours of cisplatin insult in neuromasts, as demonstrated by anti-parvalbumin 3 immunofluorescence staining or YO-PRO1 vital dye staining. Time course analysis of neuromast hair cell regeneration showed that regenerated hair cells first appeared between 12 and 24h after damage, and the abundance of these cells increased stepwise with recovery time. After 72h, 90% of the hair cells were regenerated, and after 84h, the number of regenerated hair cells was comparable to the number of neuromast hair cells before treatment. The expression pattern of slc17a8 also showed that hair cells were regenerated after cisplatin exposure. Meanwhile, peripheral supporting cells moved toward the center of the neuromasts, as shown by the in situ expression pattern of sox21a. Increased hair cell progenitor formation was also observed, as demonstrated by the in situ expression pattern of atoh1a. Furthermore, we detected increased expression of wnt2, wnt3a, and ctnnb1 in sorted supporting cells from the sqet10 transgenic line, which labels neuromast supporting cells specifically. In situ hybridization analysis also showed decreased expression of dkk1a and dkk2. Regenerated hair cells were inhibited by early inhibition of Wnt/ß-catenin signaling. Taken together, the results presented here showed that Wnt/ß-catenin signaling was activated in supporting cells during cisplatin exposure earlier than expected. Our results also indicated that supporting cells enabled hair cell regeneration via Wnt/ß-catenin signaling during cisplatin exposure.

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously. CASE PRESENTATION: We present the case of a 23-year-old female who was found to have both type II Abernethy malformation and Caroli's syndrome. Radiological imaging was performed, including computed tomography with three-dimensional reconstruction and magnetic resonance imaging with (magnetic resonance cholangiopancreatography (MRCP), which revealed a side-to-side portocaval shunt, intrahepatic bile duct dilation, congenital hepatic fibrosis, and renal cysts. In addition, PKHD1 (polycystic kidney and hepatic disease 1) gene mutational analysis revealed a paternally inherited heterozygous missense mutation (c.1877A > G, p.Lys626Arg). A liver biopsy confirmed the pathological features of Caroli's syndrome. CONCLUSIONS: To our knowledge, this is the first reported case of a patient with both type II Abernethy malformation and Caroli's syndrome diagnosed using a comprehensive approach that included imaging, mutational analysis, and liver biopsy. Additionally, this is the second reported case to date of an Asian patient presenting with liver and renal disorders with the same paternally inherited PKHD1 missense mutation.