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Case Reports
. 2020 Jun;14(2):542-549.
doi: 10.1007/s12105-019-01051-z. Epub 2019 Jul 4.

(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4-Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing

Bingcheng Wu  1 , Thomas Kwok Seng Loh  2 , Tomas Vanecek  3 , Michal Michal  3   4 , Fredrik Petersson  5
Affiliations
Case Reports

(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4-Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing

Bingcheng Wu et al. Head Neck Pathol. 2020 Jun.

Abstract

We present a 72 years old male with a left nasal cavity (mammary analogue) secretory carcinoma (SC) which exhibited classical morphological features on light microscopical examination, diffuse strong S100 and mammoglobin positivity on immunohistochemistry, and ETV6-NTRK3 gene fusion on next generation sequencing (NGS) analysis. Unusual features of this tumor are expression of p63 and DOG1 on immunohistochemistry and the atypical junction between Exon 4 of the ETV6 gene and Exon 14 of the NTRK3 gene.

Keywords: ETV6-NTRK3 fusion protein, human; Immunohistochemistry; Mammary analogue secretory carcinoma; Nasal cavity.

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Conflict of interest statement

The authors have no conflict of interest.

Figures

Fig. 1
Fig. 1
a Endoscopic image of the recurrent tumor in the nasal cavity. b There is a microcystic pattern with abundant intra-luminal eosinophilic secretions. Hematoxylin and Eosin stain, × 20 magnification. c A combination of microcystic and papillary-cystic patterns are seen. Hematoxylin and Eosin stain, × 100 magnification, × 100 magnification. d A combination of papillary-cystic and solid patterns are seen. Hematoxylin and Eosin stain, × 100 magnification. e The abundant intra-luminal secretions are positive for periodic acid-Schiff stain (following diastase pre-treatment). Periodic acid-Schiff stain (following diastase pre-treatment), × 100 magnification. f The tumor cells exhibit round to oval, medium size nuclei with small nucleoli and ample eosinophilic cytoplasm. Hematoxylin and Eosin stain, × 400 magnification
Fig. 2
Fig. 2
a The tumor cells diffusely expressed S100. Immunohistochemistry, S100 antibody, × 200 magnification. b The tumor cells diffusely expressed mammoglobin. Immunohistochemistry, mammoglobin antibody, × 100 magnification. c The tumor cells diffusely expressed GATA3. Immunohistochemistry, GATA3 antibody, × 100 magnification. d The tumor cells show patchy nuclear expression of p63 with no biphasic (luminal/abluminal) pattern. This pattern of staining was present throughout the tumor, and correlates with the expression of SOX10. Immunohistochemistry, P63 antibody, × 400 magnification. e The tumor cells show patchy expression of DOG1 (incomplete membranous staining, mainly decorating glandular lumina). Immunohistochemistry, DOG1 antibody, × 400 magnification. f The tumor cells show patchy and weak expression of SOX10. This pattern of staining was present throughout the tumor, and correlates with the expression of p63. Immunohistochemistry, SOX10 antibody, × 400 magnification
Fig. 3
Fig. 3
Raw NGS data visualization of the ETV6-NTRK3 exons 4–14 fusion. The read depth at the breakpoint is 1556 reads. The fusion is found in 38% of all reads detected at this site. The fusion is supported by 345 reads with unique start sites
See this image and copyright information in PMC

References

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