Thyroid Gland Medullary Carcinoma

Considering that SSTR expression is also present in various other tumors-including pheochromocytomas, paragangliomas, meningiomas, and medullary thyroid carcinomas-there is increasing interest in expanding the use of PRRT to other SSTR-positive malignancies. This review aimed to present evidence, explore ongoing clinical research, and highlight emerging directions for 177Lu-DOTATATE therapy beyond gastroenteropancreatic NETs.

Although driver mutations in sporadic medullary thyroid carcinoma (sMTC) mostly come from targeted NGS data in tumours from patients with localised disease, NGS findings can also be used for therapeutic purposes in advanced-stage sMTC cases with progressive local-regional or distant metastatic disease. We believe that additional studies should be conducted with a larger number of patients so that the findings can be included in the treatment guidelines to be prepared.

The presented data highlighted the molecular heterogeneity of MTCs and the need for personalized treatment strategies. For this reason, the obtained profiles could offer novel perspectives into the molecular landscape of this neoplasm within the scientific community.

We define three molecular subtypes with distinct outcomes and present an integrative machine learning model combining clinical, genomic, and proteomic features, validated in an independent test dataset of 105 patients and a published dataset. This multi-center, multi-omics study enhances the understanding of MTC heterogeneity and facilitates personalized patient management.

She underwent emergency total colectomy with end ileostomy, and histopathology confirmed diffuse ganglioneuromatosis. This case represents one of the oldest reported presentations of megacolon in MEN2B and highlights the importance of recognising gastrointestinal features in all age groups to allow timely surgical intervention and optimise patient outcomes.

Fine-needle aspiration is a highly valuable method for the preoperative diagnosis of MTC.

Our report indicates an association between selpercatinib plasma concentration and renal tubular damage, and emphasizes the importance of recognizing selpercatinib-induced tubular injury. This report also provides guidance for the management of these renal manifestations and for rechallenge guided by TDM, highlighting a potential role for TDM in dose determinations after selpercatinib-induced renal toxicity.

Subsequent evaluation confirmed elevated serum calcitonin levels, leading to the accurate diagnosis of medullary thyroid carcinoma (MTC) confirmed by a pathologic review of the initial surgical specimen. This case highlights consideration of the potential for primary misdiagnosis in radio-iodine refractory differentiated thyroid cancer (DTC) with low serum Tg levels and emphasizes the importance of a thorough pathological review in patients with atypical presentations.

The immunotherapy was well tolerated, but did not have an impact on tumor growth rate at 6 months as measured by calcitonin kinetics.

These include multiple endocrine neoplasia type 2A (MEN2A), medullary thyroid carcinoma (MTC), Hirschsprung disease, and pheochromocytoma. The existence and use of a database classifying variants in the RET gene plays a fundamental role in molecular diagnostics and personalized medicine.

This study did not support the hypothesis that sequencing immunotherapy with an immune checkpoint inhibitor could enhance the clinical activity of the immune checkpoint, which has not demonstrated independent activity in that disease previously.

In real-word settings, selpercatinib showed high efficacy and tolerability, particularly as first-line treatment. Our findings support its use as the preferred initial targeted treatment for RET-driven MTC beyond clinical trial populations.