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Earlier diagnosis, treatment improve outcomes in multiple endocrine neoplasia type 2B
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A group of patients with multiple endocrine neoplasia type 2B diagnosed after 2000 were more likely to undergo surgery at an earlier stage of the disease and experienced a greater cure rate vs. patients diagnosed before 2000, according to findings from a long-term, observational study.
Multiple endocrine neoplasia type 2B (MEN2B), a rare endocrine tumor syndrome, is associated with the early onset of medullary thyroid cancer (MTC) and the development of pheochromocytoma in approximately 50% of patients, as well as a distinct facial appearance that develops in childhood, Friedhelm Raue, MD, a professor at the University of Heidelberg, Germany, and colleagues wrote in the study background. The incidence of MEN2B was recently estimated at 1.4 to 1.65 per million live births per year, they wrote.
“Survival of patients with MEN2B is markedly lower than that of the normal population; among patients with MEN2B, the most common cause of death is MTC,” the researchers wrote. “Currently, for MEN2B, long-term follow-up and outcome are poorly defined.”
In a retrospective study, Raue and colleagues analyzed hospital records and chart information from 75 patients with the MEN2B phenotype, diagnosed between 1966 and 2016. Included patients were treated at the surgical center at the University of Halle and the Endocrine Practice and Molecular Laboratory in Heidelberg, Germany. MEN2B was diagnosed based on a genetic analysis of the RET gene (n = 63); 13 patients died before the genetic testing was available and were diagnosed based on phenotype. Researchers defined tumor stages based on revised American Thyroid Association guidelines for the management of MTC.
Researchers stratified patients into two groups: those diagnosed and treated with MEN2B before 2000 (n = 40) or after 2000 (n = 35), comparing the groups for demographic, biochemical, surgical and outcome parameters.
Within the cohort, mean age at thyroidectomy was 16 years; mean follow-up was 9.6 years.
When comparing those diagnosed before and after 2000, researchers observed a large increase in the proportion of patients diagnosed in stages I or II after 2000, from 11% to 32% (P < .027), whereas the proportion of cured patients also increased from 20% to 42% (P < .017).
Cancer-related survival rates were 85% at 5 years, 74% at 10 years and 58% at 20 years, according to researchers. In a multivariate analysis, researchers found that stage at diagnosis was the only significant prognostic factor, either before or after 2000; however, researchers observed a higher survival trend in patients diagnosed after 2000 (P = .0587).
The researchers observed that MTC in MEN2B had variable aggressiveness.
“On one hand, we observed patients with a very early onset that were diagnosed in the advanced tumor stage,” the researchers wrote. “This group had a high proportion of metastatic disease and, therefore, a high rate of death. On the other hand, we observed patients with a more moderate course of disease with a later onset. This group experienced higher survival rates.”
In comparing patients with MEN2B to reports of patients with MEN2A or sporadic MTC, the disease course and survival in the different tumor stages seemed comparable, they wrote.
“Given the considerable progress made in the new millennium, in terms of earlier diagnosis with molecular and biochemical screening, higher awareness of the phenotype, and increasing use of comprehensive operative techniques, we found that better long-term survival has been achieved,” the researchers wrote. – by Regina Schaffer
Disclosures: The authors report no relevant financial disclosures.
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