Case report: Clinical and single-cell transcriptome sequencing analysis of a mixed gangliocytoma-adenoma presenting as acromegaly

病例报告:混合性神经节细胞瘤-腺瘤表现为肢端肥大症的临床和单细胞转录组测序分析

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Abstract

BACKGROUND: Mixed gangliocytoma-adenoma (MGA) is a rare tumor of pituitary gland. It's difficult to distinguish it from pituitary adenoma by clinical manifestations, imaging features or serological testing. Thus, the histopathological examination is still the golden standard for diagnosis. Besides, studies on molecular level are still lacking. CASE INFORMATION: In this case report, we described a 28-year-old male with MGA presenting as acromegaly, who suffered staging operation and post-operation gamma knife radiosurgery, but finally died of secondary hyperglycemic hyperosmolar collapse. A complete data including clinical, histopathological, ultrastructural and single-cell transcriptome level information were collected and analyzed. CONCLUSION: This case report detailed the only clinical and molecular report of MGA following operation and radiotherapy. Complete clinical data enhanced the understanding of the diagnosis and treatment of this disease. Besides, the single-cell transcriptome sequencing analysis further disclosed the intra-tumoral heterogeneity and provided support for subsequent basic research.

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