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Papillary type 2 renal cell carcinoma (RCC) is part of the hereditary leiomyomatosis and renal cell carcinoma syndrome that is caused by a mutation in the fumarate hydratase (FH) gene. In this article, the authors present a tragic case of a young man who was diagnosed with papillary type 2 RCC and was managed with radical nephrectomy, immunotherapy, chemotherapy and surgical debulking. The article discusses the treatment and management of patients with renal manifestations of FH heterozygosity that are the most serious aspects of the syndrome, and underlines the need for genetic evaluation of patients and members of their families.
Carney's triad is a syndrome consisting of three rare neoplasms: gastric leiomyosarcoma, extra-adrenal paraganglioma and pulmonary chondroma. The article by Kächele et al. describes the case of a young woman who presented with a gastrointestinal stromal tumor and metastatic epicardial paraganglioma. The patient underwent an extended hemigastrectomy and cardiac surgery and remained free of recurrent disease during the follow-up period. This is the first report of an epicardial paraganglioma within a Carney's triad and the authors discuss the diagnostic workup and management of patients with Carney's syndrome.
Individuals with recessive mutations in the mismatch repair geneMSH6 are at an increased risk of developing primary and secondary malignancies. In this article, Scott et al. describe the case of a young girl with constitutional biallelic MSH6 mutations who had developed colonic carcinomas, medulloblastoma and acute myeloid leukemia. The patient underwent allogeneic bone marrow transplantation and panproctocolectomy and was treated with chemotherapy. This report broadens the tumor spectrum associated with biallelic MSH6mutations and discusses the differential diagnosis and implications for treatment in individuals with such mutations.
This article describes the case of a 78-year-old man who was presented with a rapidly growing mass in the left axilla but no other symptoms. Excisional biopsy of the mass revealed a primary adenocarcinoma with apocrine features. The patient underwent dissection of the left axillary lymph node and received radiation therapy. Fifteen months later, a biopsy revealed metastatic apocrine carcinoma. The authors discuss the differential diagnosis and treatment options for patients with apocrine carcinoma, a rare subtype of sweat-gland carcinoma.