Lung Pathology: Fellow Case Report Slide: Lung Pathology |

Pulmonary Neuroendocrine Cell Hyperplasia Associated With Surfactant Protein C Gene Mutation FREE TO VIEW

Norlalak Jiramethee, MD; Andras Khoor, PhD; David Erasmus, MD
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Mayo Clinic Florida, Jacksonville, FL

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

Chest. 2016;150(4_S):785A. doi:10.1016/j.chest.2016.08.881
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SESSION TITLE: Fellow Case Report Slide: Lung Pathology

SESSION TYPE: Affiliate Case Report Slide

PRESENTED ON: Monday, October 24, 2016 at 03:15 PM - 04:15 PM

INTRODUCTION: Familial interstitial lung disease(ILD) is defined as presence of ILD in 2 or more family members. Surfactant protein C(SFTPC) gene mutation is a known cause of familial ILD. Pulmonary neuroendocrine cell(PNEC) hyperplasia may occur secondary to chronic lung disease, or idiopathic, but is indistinguishable histologically.

CASE PRESENTATION: A 22 year-old male was referred for lung transplantation evaluation. At age 3, he developed persistent cough, and underwent surgical lung biopsy at age 6, which revealed nonspecific interstitial pneumonia(NSIP) pattern. Genetic workup revealed novel SFTPC mutation at the first intron with A to C transversion. At age 21, he underwent bilateral lung transplantation for hypoxic respiratory failure. Explanted lung histology suggested NSIP. In addition there was PNEC hyperplasia and carcinoid tumorlets. His mother received lung transplantation several years earlier. Her explanted lungs had also shown PNEC hyperplasia and background NSIP.

DISCUSSION: SFTPC gene mutation is inherited in autosomal dominant pattern, but de novo mutation may occur. Various pattern of ILD has been recognized in SFTPC mutation including NSIP, usual interstitial pneumonia(UIP), and desquamative interstitial pneumonia(DIP). PNEC hyperplasia has been described to occur in association with lung inflammation, but not previously described with SFTPC mutation. We described mother and son with the same genetic mutation and similar histology of NSIP, PNEC hyperplasia and carcinoid tumorlets. Although the mutation occurred in an intron, non-transcribed portion of the gene, previous report of intron mutation led to alteration of splicing site causing abnormal protein production. Although causality between mutation and ILD cannot be firmly established, the familial nature of the disease suggested a genetic and histopathological correlation.

CONCLUSIONS: We report cases of familial ILD in son and mother. Both had SFTPC gene mutation and similar histology of PNEC hyperplasia, carcinoid tumorlets with background NSIP.

Reference #1: Thomas AQ, Lane K, Phillips J, 3rd, et al. Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred. Am J Respir Crit Care Med 2002; 165:1322-1328

Reference #2: Gosney JR, Williams IJ, Dodson AR, et al. Morphology and antigen expression profile of pulmonary neuroendocrine cells in reactive proliferations and diffuse idiopathic pulmonary neuroendocrine cell hyperplasia. Histopathology 2011; 59:751-762

DISCLOSURE: The following authors have nothing to disclose: Norlalak Jiramethee, Andras Khoor, David Erasmus

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