Pulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.

Area of Science:

• Pulmonary Medicine
• Genetics
• Oncology

Background:

• Multiple Endocrine Neoplasia type 2B (MEN2B) is a rare genetic disorder caused by RET proto-oncogene mutations.
• Pulmonary function in MEN2B patients has not been previously studied.
• Understanding lung involvement is crucial for comprehensive patient care.

Purpose of the Study:

• To characterize the pulmonary function in patients with MEN2B.
• To identify specific pulmonary abnormalities associated with MEN2B.
• To investigate the prevalence of lung cysts and metastatic disease in this cohort.

Main Methods:

• Retrospective analysis of pulmonary function tests (PFTs) and chest imaging.
• Inclusion of patients from the NIH Natural History Study of MEN2A or MEN2B.
• Analysis of diffusion capacity, restrictive/obstructive patterns, and CT imaging findings.

Main Results:

• Significant diffusion abnormalities (94%) were observed, with a declining trend over time.
• Restrictive (57%) and obstructive (39%) lung function abnormalities were prevalent.
• Pulmonary thin-walled cavities (28%) and metastatic lung disease (34%) were identified, often co-occurring.

Conclusions:

• Pulmonary function abnormalities are common in MEN2B patients.
• Atypical pulmonary features, including lung cysts and diffusion defects, warrant further investigation.
• The underlying mechanisms of these lung manifestations in MEN2B require elucidation.