(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

Wu, Bingcheng; Loh, Thomas Kwok Seng; Vaněček, Tomáš; Michal, Michal; Petersson, Fredrik

doi:10.1007/s12105-019-01051-z

Cited by 13 publications

(6 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Apart from the dominant classical ETV6:exon5-NTRK3:exon15 variant, which is typical for secretory carcinomas of the salivary gland [ 9 ], we found variants ETV6:exon5-NTRK3:exon16 and ETV6:exon4-NTRK3:exon15, albeit both at very low frequency. Several non-classical ETV6-NTRK3 fusion variants have been described [ 13 , 14 ], and secretory carcinomas with these variants seem to be more aggressive than tumours with the classical variant, which applies to our case, too. However, to the best of our knowledge co-existence of several variants of the same fusion gene in a single tumour has not been published until today.…”

Section: Discussionsupporting

confidence: 63%

Characterization of an ETV6-NTRK3 rearrangement with unusual, but highly significant FISH signal pattern in a secretory carcinoma of the salivary gland: a case report

et al. 2021

View full text Add to dashboard Cite

Background Fusions of neurotrophic tropomyosin receptor kinase genes NTRK1, NTRK2 and NTRK3 with various partner genes occur in both common and rare tumours and are of paramount predictive value due to the availability of very effective pan-Trk inhibitors like Larotrectinib and Entrectinib. Detection of NTRK fusions is mainly performed by fluorescence in situ hybridization (FISH) and next generation sequencing (NGS). The case described here showed a very unusual, but highly significant FISH signal pattern with an NTRK3 break apart probe, indicative of a functional NTRK3 rearrangement. Case presentation We describe here the case of a male patient who was originally diagnosed with an adenocarcinoma of the parotid gland without evidence of metastases. After the development of multiple lung metastases, an extensive immunohistochemical and molecular examination of archived tumour tissue including analysis of NTRK was performed. NTRK expression was detected by immunohistochemistry (IHC) and then comprehensively analysed further by FISH, quantitative reverse transcription PCR (RT-qPCR), and NGS. NTRK3 break apart FISH showed multiple and very faint single 3′ signals in addition to fusion signals. Quantitative reverse transcription PCR and NGS confirmed an ETV6:exon5-NTRK3:exon15 fusion. Diagnosis was therefore revised to metastatic secretory carcinoma of the salivary gland, and the patient subsequently treated with Larotrectinib, resulting in persisting partial remission. Conclusions Our findings underline the importance to be aware of non-canonical signal patterns during FISH analysis for detection of NTRK rearrangements. Very faint single 3′ signals can indicate a functional NTRK rearrangement and therefore be of high predictive value.

show abstract

Section: Discussionsupporting

confidence: 63%

Characterization of an ETV6-NTRK3 rearrangement with unusual, but highly significant FISH signal pattern in a secretory carcinoma of the salivary gland: a case report

et al. 2021

View full text Add to dashboard Cite

show abstract

“…To our knowledge, there have been 10 documented cases of SC within the sinonasal cavity (Table 1), 3,[10][11][12][13][14][15] our case report was relatively short compared to certain previous sinonasal SC case reports. The patient is scheduled for biannual follow-up assessments, and further evaluation and management may be needed if tumor recurrence is suspected.…”

Section: Computed Tomography (Ctmentioning

confidence: 78%

A Case of Secretory Carcinoma in Sinonasal Cavity

Kim,

Oh,

Kim

et al. 2023

J Clin Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

Secretory carcinoma, a low-grade salivary gland tumor discovered in 2010, predominantly occurs in major salivary glands and the oral cavity. Incidences of secretory carcinoma in the sinonasal cavity are exceedingly rare. This study reports a case of secretory carcinoma within the left nasal cavity of a 62-year-old male patient, diagnosed following endoscopic excision. Subsequently, the patient underwent endoscopic medial maxillectomy and postoperative radiotherapy, displaying no signs of recurrence after a 24-month follow-up period. By sharing our experience with this uncommon disease, our objective is to advance comprehension of secretory carcinoma concerning its diagnosis, treatment, and prognosis.

show abstract

“…Although more common in the salivary glands, (mammary analogue) secretory carcinoma has been described in other areas outside of the salivary glands. For instance, Wu et al 9 reported a single case in the nasal cavity of a 72-yearold man. The tumor, in addition to harboring the ETV6-NTRK3 fusion, also showed positive immunohistochemical staining for S-100, mammaglobin, GATA3, and SOX10 (weak).…”

Section: Discussionmentioning

confidence: 99%

Primary Mammary-Like Carcinoma of the Lung: A Case Report of a Distinct Type of Primary Lung Carcinoma

Lindholm

Moran

2020

Int J Surg Pathol

View full text Add to dashboard Cite

A case of a primary lung carcinoma with histologic and immunohistochemical features of a mammary carcinoma is presented. The patient is a 72-year-old man who presented with symptoms of cough and dyspnea. Diagnostic imaging showed a bronchial tumor in the left lower lobe that was surgically resected by a left lower lobectomy. The tumor was characterized by a homogenous cellular proliferation composed of small to medium-sized cells with round nuclei and inconspicuous nucleoli. Multiple immunohistochemical stains were performed, and the tumor was notably positive for estrogen receptor, progesterone receptor, GATA3, and pan-keratin, while molecular analysis showed somatic mutation in ARID1A. Clinical follow-up showed that the patient is alive and well 18 months post-surgical resection without evidence of recurrence or metastatic disease. Based on the overall features of this neoplasm, we consider that the tumor herein presented represents an unusual type of lung carcinoma that we refer to as primary mammary-like carcinoma of the lung.

show abstract

(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

Cited by 13 publications

References 30 publications

Characterization of an ETV6-NTRK3 rearrangement with unusual, but highly significant FISH signal pattern in a secretory carcinoma of the salivary gland: a case report

Characterization of an ETV6-NTRK3 rearrangement with unusual, but highly significant FISH signal pattern in a secretory carcinoma of the salivary gland: a case report

A Case of Secretory Carcinoma in Sinonasal Cavity

Primary Mammary-Like Carcinoma of the Lung: A Case Report of a Distinct Type of Primary Lung Carcinoma

Contact Info

Product

Resources

About