Pulmonary Neuroendocrine Cell Hyperplasia Associated with Surfactant Protein C Gene Mutation.

Norlalak Jiramethee,Lawrence Nogee,David Erasmus,Andras Khoor

doi:10.1155/2017/9541419

Abstract

Familial interstitial lung disease (ILD) is defined as presence of ILD in 2 or more family members. Surfactant protein C (SFTPC) gene mutations are rare, but well-known cause of familial ILD. We reported a 20-year-old male, who was referred for lung transplantation. He was symptomatic at age 3 and underwent surgical lung biopsy at age 6, which revealed a nonspecific interstitial pneumonia (NSIP) pattern. Genetic workup revealed a novel SFTPC mutation in the first intron with a C to A transversion. At age 21, he underwent bilateral lung transplantation. Explanted lung histology suggested NSIP. In addition there was pulmonary neuroendocrine cell (PNEC) hyperplasia and carcinoid tumorlets. His mother had undergone lung transplantation several years earlier, and her explanted lung showed similar pathology. SFTPC mutations are inherited in an autosomal dominant pattern. Various types of ILD have been associated with 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 has not been previously described with familial ILD associated with SFTPC mutation.

Highlights

Familial form of interstitial lung disease (ILD) is a rare entity
Surfactant protein C (SFTPC) mutations are a known cause of familial ILD, which can manifest as varieties of ILD pattern and may occur during childhood or adulthood
Familial interstitial pneumonia is generally defined as ILD in 2 or more family members [3, 4]

Summary

Introduction

Familial form of ILD is a rare entity. Even among the most common forms of idiopathic ILD, that is, idiopathic pulmonary fibrosis (IPF), the familial form was reported only between 0.5 and 3.7% [1, 2]. SFTPC mutations are a known cause of familial ILD, which can manifest as varieties of ILD pattern and may occur during childhood or adulthood. We described mother and son with the same SFTPC mutation. Both underwent lung transplantation and explanted lung showed similar histology of NSIP, PNEC hyperplasia, and carcinoid tumorlets

Case Report

Findings

Discussion