Pulmonary Function in Patients With Multiple Endocrine Neoplasia 2B.
Adolescent
Adrenal Gland Neoplasms
/ diagnostic imaging
Adult
Carcinoma, Medullary
/ diagnostic imaging
Child
Child, Preschool
Cohort Studies
Female
Humans
Lung
/ diagnostic imaging
Lung Neoplasms
/ diagnostic imaging
Male
Multiple Endocrine Neoplasia Type 2b
/ diagnostic imaging
Phenotype
Pheochromocytoma
/ diagnostic imaging
Proto-Oncogene Mas
Radiography, Thoracic
Respiratory Function Tests
Retrospective Studies
Thyroid Neoplasms
/ diagnostic imaging
Young Adult
MEN2B
diffusion capacity
lung cysts
pulmonary function
Journal
The Journal of clinical endocrinology and metabolism
ISSN: 1945-7197
Titre abrégé: J Clin Endocrinol Metab
Pays: United States
ID NLM: 0375362
Informations de publication
Date de publication:
01 09 2020
01 09 2020
Historique:
received:
09
03
2020
accepted:
19
05
2020
pubmed:
26
5
2020
medline:
24
2
2021
entrez:
26
5
2020
Statut:
ppublish
Résumé
Multiple endocrine neoplasia type 2B (MEN2B) is a rare cancer predisposition syndrome resulting from an autosomal-dominant germline mutation of the RET proto-oncogene. No prior studies have investigated pulmonary function in patients with MEN2B. This study characterized the pulmonary function of patients with MEN2B. This is a retrospective analysis of pulmonary function tests (PFTs) and chest imaging of patients enrolled in the Natural History Study of Children and Adults with MEN2A or MEN2B at the National Institutes of Health. Thirty-six patients with MEN2B (18 males, 18 females) were selected based on the availability of PFTs; 27 patients underwent at least 2 PFTs and imaging studies. Diffusion abnormalities were observed in 94% (33/35) of the patients, with 63% (22/35) having moderate to severe defects. A declining trend in diffusion capacity was seen over time, with an estimated slope of -2.9% per year (P = 0.0001). Restrictive and obstructive abnormalities were observed in 57% (20/35) and 39% (14/36), respectively. Computed tomography imaging revealed pulmonary thin-walled cavities (lung cysts) in 28% (9/32) of patients and metastatic lung disease in 34% (11/32) of patients; patients with metastatic lung lesions also tended to have thin-walled cavities (P = 0.035). This study characterized pulmonary function within a MEN2B cohort. Diffusion, restrictive, and obstructive abnormalities were evident, and lung cysts were present in 28% of patients. Further research is required to determine the mechanism of the atypical pulmonary features observed in this cohort.
Identifiants
pubmed: 32448901
pii: 5843672
doi: 10.1210/clinem/dgaa296
pmc: PMC7365699
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : CCR NIH HHS
ID : HHSN261200800001C
Pays : United States
Organisme : NCI NIH HHS
ID : HHSN261200800001E
Pays : United States
Organisme : Intramural NIH HHS
ID : ZIA BC011852
Pays : United States
Informations de copyright
Published by Oxford University Press on behalf of the Endocrine Society 2020.
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