Morphologic, Immunohistochemical, and Genetic Differences Between High-grade and Low-grade Fetal Adenocarcinomas of the Lung

Am J Surg Pathol. 2021 Nov 1;45(11):1464-1475. doi: 10.1097/PAS.0000000000001744.

Abstract

Fetal adenocarcinoma of the lung (FLAC) is a rare lung tumor classified into low-grade fetal adenocarcinoma of the lung (LG-FLAC) and high-grade fetal adenocarcinoma of the lung (HG-FLAC). It remains debatable whether HG-FLAC is a subset of FLAC or a distinct subtype of the conventional lung adenocarcinoma (CLA). In this study, samples of 4 LG-FLAC and 2 HG-FLAC cases were examined, and the clinicopathologic, immunohistochemical (IHC), and mutational differences between the 2 subtypes were analyzed using literature review. Morphologically, LG-FLACs had a pure pattern with complex glandular architecture composed of cells with subnuclear and supranuclear vacuoles, mimicking a developing fetal lung. In contrast, HG-FLACs contained both fetal lung-like (FLL) and CLA components. With regard to IHC markers, β-catenin exhibited a nuclear/cytoplasmic staining pattern in LG-FLACs but a membranous staining pattern in HG-FLACs. Furthermore, p53 was expressed diffusely and strongly in HG-FLACs, whereas in LG-FLACs, p53 staining was completely absent. Using next-generation sequencing targeting a 1021-gene panel, mutations of CTNNB1 and DICER1 were detected in all 4 LG-FLAC samples, and a novel mutation, MYCN P44L, was discovered in 2 LG-FLAC samples. DNA samples of the FLL and CLA components of HG-FLACs were separately extracted and sequenced. The FLL component harbored no CTNNB1, DICER1, or MYCN mutations; moreover, the FLL genetic profile largely overlapped with that of the CLA component. The morphologic, IHC, and genetic features of HG-FLAC indicate that it is a variant of CLA rather than a subset of FLAC. Thus, HG-FLAC should be treated differently from LG-FLAC.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma of Lung / chemistry
  • Adenocarcinoma of Lung / diagnosis*
  • Adenocarcinoma of Lung / genetics
  • Adenocarcinoma of Lung / pathology
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor* / analysis
  • Biomarkers, Tumor* / genetics
  • Child
  • DEAD-box RNA Helicases / analysis
  • DEAD-box RNA Helicases / genetics
  • DNA Mutational Analysis*
  • Female
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Immunohistochemistry*
  • Lung Neoplasms / chemistry
  • Lung Neoplasms / diagnosis*
  • Lung Neoplasms / genetics
  • Lung Neoplasms / pathology
  • Male
  • Middle Aged
  • Mutation*
  • N-Myc Proto-Oncogene Protein / analysis
  • N-Myc Proto-Oncogene Protein / genetics
  • Neoplasm Grading
  • Predictive Value of Tests
  • Retrospective Studies
  • Ribonuclease III / analysis
  • Ribonuclease III / genetics
  • Young Adult
  • beta Catenin / analysis
  • beta Catenin / genetics

Substances

  • Biomarkers, Tumor
  • CTNNB1 protein, human
  • MYCN protein, human
  • N-Myc Proto-Oncogene Protein
  • beta Catenin
  • DICER1 protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases