The molecular biology of sporadic acromegaly.

GH-secreting tumors represent 15 % to 20 % of all pituitary neuroendocrine tumors (pitNETs), of which 95 % occur in a sporadic context, without an identifiable inherited cause. Recent multi-omic approaches have characterized the epigenomic, genomic, transcriptomic, proteomic and kynomic landscape of pituitary tumors. Transcriptomic analysis has allowed us to discover specific transcription factors driving the differentiation of pituitary tumors and gene expression patterns. GH-secreting, along with PRL- and TSH-secreting pitNETs are driven by POU1F1; ACTH-secreting tumors are determined by TBX19; and non-functioning tumors, which are predominantly of gonadotrope differentiation are conditioned by NR5A1. Upregulation of certain miRNAs, such as miR-107, is associated with tumor progression, while downregulation of others, like miR-15a and miR-16-1, correlates with tumor size reduction. Additionally, miRNA expression profiles are linked to treatment resistance and clinical outcomes, providing insights into potential therapeutic targets. Specific somatic mutations in GNAS, PTTG1, GIPR, HGMA2, MAST and somatic variants associated with cAMP, calcium signaling, and ATP pathways have also been associated with the development of acromegaly. This review focuses on the oncogenic mechanisms by which sporadic acromegaly can develop, covering a complex series of molecular alterations that ultimately alter the balance between proliferation and apoptosis, and dysregulated hormonal secretion.

Giant Cell Tumor of the Thoracic Spine in a Young Female Patient in a México City Spine Center: A Case Report.

BACKGROUND Giant cell tumors of the bone (GCTB) are rare, locally aggressive benign neoplasms that primarily occur in the metaphyses of long bones. In less than 2% of cases, GCTBs arise in the spine, predominantly below the sacrum. We report the clinical manifestations, diagnostic approach, and successful surgical treatment of a patient with a GCTB of the thoracic spine. CASE REPORT A 21-year-old female patient presented to the Emergency Department with back pain and upper motor neuron syndrome. A thorough clinical and imaging examination revealed a tumor and pathological fracture of the T7 vertebra. Histopathological analysis confirmed the diagnosis of a GCTB. The tumor was successfully excised surgically via a posterior thoracic approach, including bilateral decompressive laminectomy, lateral costotransversectomy, and posterior corpectomy, followed by transpedicular instrumentation of the T5-T6 and T8-T9 vertebrae, and anterior arthrodesis with an autologous graft. The patient also received adjuvant radiotherapy. One year later, the patient had no signs of recurrence or physical limitations. CONCLUSIONS GCTBs located in the thoracic spine are uncommon and pose a significant challenge for healthcare professionals due to their non-specific clinical manifestations and the need for a multidisciplinary approach to their management. This case highlights the diagnostic and therapeutic implications of a GCTB of the thoracic spine and describes a successful surgical strategy resulting in complete recovery. The presented case adds to the limited published literature on GCTBs in this unusual location and further elaborates on their presentation and management.