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Failure to recognize multiple endocrine neoplasia 2B: more common than we think?
Curtis J Wray1, Thereasa A Rich, Steven G Waguespack
1Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA.
Annals of Surgical Oncology
|October 27, 2007
Summary
Diagnosis of Multiple Endocrine Neoplasia 2B (MEN2B) is often delayed, leading to advanced medullary thyroid carcinoma (MTC). Early recognition of MEN2B phenotype improves MTC treatment outcomes.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple Endocrine Neoplasia 2B (MEN2B) presents in childhood with characteristic features like mucosal neuromas.
- Delayed diagnosis of MEN2B often leads to advanced medullary thyroid carcinoma (MTC) at the time of diagnosis.
Observation:
- A study of 22 MEN2B patients revealed a median MTC diagnosis age of 13 years, with a median diagnostic delay of 26 months.
- 55% of patients had persistent local-regional MTC after initial surgery, regardless of diagnosis timing.
- The M918T RET gene mutation was confirmed in 18 out of 22 patients.
Findings:
- Most MEN2B patients exhibit symptoms years before diagnosis.
- Half of the patients did not achieve complete MTC resection during their initial thyroid surgery.
Implications:
- Early identification of the MEN2B phenotype is crucial for timely intervention.
- Improved preoperative staging and surgical strategies can enhance MTC control and reduce reoperations.
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