BackgroundParathyroid carcinoma (PC) is an uncommon cause of primary hyperparathyroidism (PHPT) and particularly rare in the mediastinum. Herein, we present a case of mediastinal PC and conduct a related literature review.Case presentationWe described a case of a 50-year-old female patient with PHPT due to mediastinal PC. She was initially admitted to a local hospital in her hometown with hypercalcemia and high blood concentrations of PTH (parathyroid hormone). The patient underwent neck parathyroidectomy and pathological examination suggested parathyroid adenoma. Although the overproduction of serum calcium and PTH declined after the surgery, calcium and PTH increased again one month later, so the patient was transferred to our hospital. A 99mTc-sestamibi scan revealed an ectopic finding in the mediastinum, which was also indicated on the CT image. After removing the mediastinal mass, the metabolism of calcium and PTH quickly reverted to normal and the pathologic features of the mass were consistent with PC. By reviewing the related literature, we noticed that only scattered reports were published before 1982, and those were not included in the present review due to their differences with current radiological examination and treatment methods. After excluding outdated studies, we summarized and analyzed 20 reports of isolated mediastinal PC and concluded that. Parathyroidectomy remains the only curative treatment for the disease. Furthermore, the success of treatment directly depends on accurate preoperative localization.ConclusionWith this study, we emphasize the importance of accurate preoperative diagnosis of mediastinal PC and improve clinicians’ understanding of the disease.

BackgroundPeutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.Case presentationWe reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members’. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c.962_963delCC in exon 8 was identified in this patient. This mutation causes a frameshift mutation and a premature termination at codon 358. Protein structure prediction by Swiss-Model indicated a dramatic change and partial loss of the C-terminal domain. We did not observe this mutation in both parents of the proband. Therefore, it is considered a novel de-novo mutation. Furthermore, the mutation was not found in 50 unrelated healthy people.ConclusionsThe novel mutation we reported here had not been recorded in databases or literature, and the patient who possessed it suffered from PJS and colon cancer. So our results enlarge the spectrum of STK11 variants in PJS patients. This mutation is most likely responsible for development of the PJS phenotype, especially the cancer occurrence.

BackgroundAwareness of the spectrum of clinical manifestations of systemic lupus erythematosus (SLE), especially uncommon changes, is essential for diagnosis and effective management of patients.Case presentationA 26-year-old Chinese man with SLE initially manifested cutaneous papulonodular mucinosis and developed acute Guillain-Barré syndrome and class V lupus nephritis 2 years later. His cutaneous nodules had not been idententified for 2 years and were resected by surgical procedures twice until SLE was diagnosed. The kidney biopsy revealed class V lupus nephritis. The patient responded well to a short course of intravenous immunoglobulins and his muscle strength almost completely recovered. So far, he has undergone five cycles of cyclophosphamide combined with hydroxychloroquine and tapering prednisone, resulting in partial remission of lupus nephritis and disappearance of hypocomplementemia.ConclusionWe reported a rare case of male patient with SLE with manifestation of class V lupus nephritis, Guillain-Barré syndrome and papulonodular mucinosis.

BackgroundHereditary diffuse gastric carcinoma (HDGC) accounts for 1–3% of all gastric carcinomas. Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors in the gastrointestinal (GI) tract but they comprise fewer than 1% of all GI malignancies. Small-cell carcinoma (SmCC) is a rare histological type of esophageal carcinoma, accounting for 0.4% to 2.8% of all esophageal tumors. Co-occurrence of SmCC with esophageal tumors caused by squamous carcinoma is also very uncommon. Although multiple primary malignancies are no longer rare in clinical practice, the simultaneous appearance of HDGC, GIST, esophageal small cell and squamous carcinoma in situ is extremely rare and very few cases have been reported.Case presentationWe present a case of a 53 year-old woman with synchronous occurrence of four malignancies including HDGC, GIST, esophageal small cell- and local squamous carcinoma in situ. A total gastrectomy with D2 lymph node dissection and postoperative adjuvant chemotherapy with oxaliplatin and paclitaxel liposome were performed. After a 1-year follow-up, this patient was still in good condition with no evidence of recurrence.ConclusionThis is the unique case that describes the co-existence of the aforementioned four types of neoplasm. This case demonstrates that a diagnosis of gastric cancer does not preclude the presence of other malignancies and every case should be thoroughly analyzed to avoid missing other problems, which may worsen the prognosis.

BackgroundAwareness of the spectrum of clinical manifestations of systemic lupus erythematosus (SLE), especially uncommon changes, is essential for diagnosis and effective management of patients.Case presentationA 26-year-old Chinese man with SLE initially manifested cutaneous papulonodular mucinosis and developed acute Guillain-Barré syndrome and class V lupus nephritis 2 years later. His cutaneous nodules had not been idententified for 2 years and were resected by surgical procedures twice until SLE was diagnosed. The kidney biopsy revealed class V lupus nephritis. The patient responded well to a short course of intravenous immunoglobulins and his muscle strength almost completely recovered. So far, he has undergone five cycles of cyclophosphamide combined with hydroxychloroquine and tapering prednisone, resulting in partial remission of lupus nephritis and disappearance of hypocomplementemia.ConclusionWe reported a rare case of male patient with SLE with manifestation of class V lupus nephritis, Guillain-Barré syndrome and papulonodular mucinosis.

BackgroundPeutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk of developing cancer.Case presentationWe reported an isolated PJS patient who died of colon cancer, whose blood sample was collected together with all the available family members’. The entire coding region of the STK11 gene was amplified by PCR and analyzed by Sanger sequencing, through which, a novel mutation, c.962_963delCC in exon 8 was identified in this patient. This mutation causes a frameshift mutation and a premature termination at codon 358. Protein structure prediction by Swiss-Model indicated a dramatic change and partial loss of the C-terminal domain. We did not observe this mutation in both parents of the proband. Therefore, it is considered a novel de-novo mutation. Furthermore, the mutation was not found in 50 unrelated healthy people.ConclusionsThe novel mutation we reported here had not been recorded in databases or literature, and the patient who possessed it suffered from PJS and colon cancer. So our results enlarge the spectrum of STK11 variants in PJS patients. This mutation is most likely responsible for development of the PJS phenotype, especially the cancer occurrence.