Lung Cancer: Student/Resident Case Report Poster - Lung Cancer II |

Pulmonary Carcinoid in an 18 Year Old With VACTERL Association; Case Report and Literature Review FREE TO VIEW

Dale Railwah, MBBS; Kerri Bally, MBBS; Miguel Ramirez, MD
Author and Funding Information

SUNY Downstate Medical Center, Brookyn, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):756A. doi:10.1016/j.chest.2016.08.851
Text Size: A A A
Published online

SESSION TITLE: Student/Resident Case Report Poster - Lung Cancer II

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: VACTERL association is not known to be a predisposing factor to malignancy. We present a rare case of carcinoid tumor presenting in a young, man with VACTERL.

CASE PRESENTATION: An 18-year-old black male with a history of right-sided hydronephrosis with right nephrectomy at 7months old, clubbed feet, scoliosis and patent VSD presented to SUNY Downstate Medical Center with intermittent hemoptysis for four months. Physical exam demonstrated scoliosis and a grade 3/6 pansystolic murmur. Labs were unremarkable. CT of the chest revealed a 2.3cm right peribronchial mass with an endobronchial component eroding into the bifurcation of the bronchus intermedius. Subsequent bronchoscopy and biopsy of the mass revealed epithelial cells in a chondromyxoid stroma suggestive of a pleomorphic adenoma. Video -Assisted Thorascopic surgery (VATS) and bilobectomy of the right middle and lower lung lobes provided surgical histology, which confirmed the diagnosis of Typical Carcinoid tumor. Somatostatin Receptor Scintigraphy (SRS) showed no evidence of residual tumor or metastases.

DISCUSSION: VACTERL association is defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities. The incidence is between 1/10,000 to 1/40,000 infants. Proposed etiology is likely multifactorial. Genetic etiologies identified in humans with VACTERL include mitochondrial dysfunction, heterozygous mutations in HOXD13 and heterozygous/ hemizygous mutations in ZIC3. Environmental influences implicated include maternal diabetes mellitus, in-utero exposure to estrogen/progesterone compounds and lead. Treatment involves surgical correction of the congenital abnormality. Bronchopulmonary neuroendocrine tumors (BP-NETs) represent a range of malignancies arising from the neuroendocrine cells of the bronchopulmonary epithelium. The 2004 WHO histological classification listed four subtypes: low grade typical carcinoid tumor, intermediate grade atypical carcinoid tumor, large cell neuroendocrine carcinoma and small cell lung carcinoma. They represent 1.2% of primary lung malignancies; incidence in the U.S is 1.57 of 100,000. Typical carcinoid tumors occur more frequently in the fifth and sixth decade of life. Presentations include cough (32%) and hemoptysis (26%). Diagnosis consists of imaging using X-ray, CT scan and/or the combination of Somatostatin Receptor Scintigraphy (SRS) and PET scan followed by biopsy. Treatment involves surgical resection.

CONCLUSIONS: The exact genetic etiology of VACTERL nor carcinoid is known; perhaps further investigation using newer genomic sequencing could be used to explain a possible link.

Reference #1: Solomon BD. VACTERL/VATER Association. Orphanet Journal of Rare Diseases. 2011;6:56. doi:10.1186/1750-1172-6-56.

Reference #2: Gustafsson, B. I., Kidd, M., Chan, A. (2008), Bronchopulmonary neuroendocrine tumors. Cancer, 113: 5-21. doi: 10.1002/cncr.23542

DISCLOSURE: The following authors have nothing to disclose: Dale Railwah, Kerri Bally, Miguel Ramirez

No Product/Research Disclosure Information




Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).

Some tools below are only available to our subscribers or users with an online account.

Related Content

Customize your page view by dragging & repositioning the boxes below.

Find Similar Articles
CHEST Journal Articles
  • CHEST Journal
    Print ISSN: 0012-3692
    Online ISSN: 1931-3543