Thyroid Gland Medullary Carcinoma

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.

Occult contralateral disease in sMTC is rare when high-quality preoperative ultrasound is available. In selected patients with unifocal, node-negative tumors and favorable pathology, HT combined with structured calcitonin monitoring may be an oncologically safe, less morbid alternative. These findings support individualized, risk-adapted surgical strategies in sMTC. Prospective validation is warranted.

This study presents a non-invasive and efficient alternative for predicting RET mutations in MTC, demonstrating the potential of hyperspectral imaging and integrated deep learning to advance precision oncology.

P2, N=174, Recruiting, Boehringer Ingelheim | Trial primary completion date: Oct 2026 --> Jan 2027

In our small case series, no association was demonstrated between simultaneous MTC/PTC and age, CEA, calcitonin levels, gender, or number of operations. This entity likely represents a primary tumor with an incidental pathologic finding of a second malignancy.