Thyroid Gland Medullary Carcinoma

Despite vandetanib treatment, the disease progressed and the patient expired. This case highlights a rare presentation of a metastatic neoplasm highly suggestive of RET wild-type MTC with peritoneal involvement, despite the absence of an identifiable primary lesion.

Subsequent next-generation sequencing of the lymph node metastasis revealed a novel heterozygous MUTYH frameshift mutation, c.848delT (p.M283Rfs*3), which was confirmed to be of germline origin by Sanger sequencing of the patient's normal thyroid tissue. This case expands the disease spectrum associated with heterozygous MUTYH carriers and enhances the understanding of the phenotypic heterogeneity of tumors in this population.

P1, N=158, Active, not recruiting, Janssen Research & Development, LLC | Trial completion date: Dec 2026 --> Apr 2027

Children with MEN2B demonstrate a highly characteristic and complete phenotypic spectrum. However, diagnostic delay in children with sporadic MEN2B is common, often leading to lymph node metastasis at diagnosis. Enhancing awareness of its distinctive features among relevant specialists and establishing efficient multidisciplinary team-based recognition and referral pathways are crucial for achieving early genetic diagnosis, enabling timely prophylactic surgery, and ultimately improving long-term outcomes.

P=N/A, N=21, Recruiting, Shanghai Jiao Tong University School of Medicine | Trial completion date: Dec 2025 --> Jun 2027 | Trial primary completion date: Jun 2025 --> Dec 2026

Biochemical markers were disproportionately low relative to disease burden, consistent with a low-secretory MTC. This case highlights the limitations of SSTR-targeted imaging in MTC and underscores the diagnostic superiority of FAP-targeted imaging.

P=N/A, N=40, Recruiting, M.D. Anderson Cancer Center | Suspended --> Recruiting

Herein, we present a rare case of MTC that caused hypercalcemia via PTHrP production. Although HHM is uncommon in thyroid cancer, the condition can cause severe hypercalcemia requiring prompt diagnosis and treatment. HHM should be considered in patients with thyroid cancer with hypercalcemia, and PTHrP measurement may aid in the diagnosis.

Upon re-evaluation one year later, imaging revealed recurrent paratracheal, pulmonary, hepatic, and possible adrenal metastases, prompting re-initiation of selpercatinib at a reduced dose, which she tolerated and continues to this day with surveillance of symptoms, serial electrocardiograms, laboratory work, and imaging. This case illustrates the aggressive course of RET M918T-mutated MEN2B and underscores the importance of early genetic diagnosis, vigilant surveillance, and continuity of selective RET inhibitor therapy to optimize disease control.

HRas proto-oncogene (HRAS) and STAG2 cohesin complex component (STAG2) were synchronously identified as the driver genes, while the OTUB2 deletion mutation may contribute to tumor proliferation and disease progression in TCTs.

P2, N=137, Active, not recruiting, Canadian Cancer Trials Group | Trial completion date: Dec 2025 --> Jun 2026

However, QTc prolongation occurred in both of our patients, suggesting that it may represent a clinically relevant concern in selected individuals. Appropriate dose adjustment and careful monitoring may facilitate continued treatment in selected patients.