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Clinicopathologic and Molecular Characterization of Four Cases of Pediatric Salivary Secretory Carcinoma (SSC), One with ETV6-RET Fusion
- Source :
- Head Neck Pathol
- Publication Year :
- 2020
-
Abstract
- Salivary gland secretory carcinoma (SSC) is a neoplasm with characteristic histologic features, similar to those of secretory carcinoma of the breast. Only a few pediatric SSC cases have been reported, all with ETV6-NTRK3 fusion. We present four new pediatric SSC examples, one with a novel ETV6-RET fusion. Four cases of SSC were diagnosed between 2010 and 2020: 2 boys, 7 and 9 year-old with parotid tumors (1.5 and 1.3 cm, respectively); and two 14 year-old girls: one with a submandibular tumor (2.1 cm), and one with a parotid lesion (1.2 cm). Histologically, all tumors were similar: well-circumscribed lesions composed by mid-size, monotonous cells with eosinophilic and sometimes vacuolated cytoplasm. The nuclei are oval to round with open chromatin and a single nucleolus. There are duct-like structures and microcysts with colloid-like material. Immunohistochemically, tumor cells are positive for S100, CK7, mammaglobin and GATA3. A classic ETV6-NTRK3 translocation was confirmed in the three parotid tumors; an ETV6-RET fusion was demonstrated in the submandibular lesion. All patients underwent complete surgical resection and are alive without tumor recurrence after a follow-up time ranging from one to 4 years. Pediatric SSC is extremely rare but their characteristic morphology and immunohphenotype facilitate their diagnosis. We describe the first pediatric case with the recently reported ETV6-RET fusion. Similar to adult cases, this tumor is morphologically undistinguishable from those carrying the classic ETV6–NTRK3 translocation. Thus, in pediatric cases with morphology suggestive of SSC and negative ETV6-NTRK3 by RT-PCR, other possible fusions should be investigated.
- Subjects :
- 0301 basic medicine
Male
Pathology
medicine.medical_specialty
Adolescent
Oncogene Proteins, Fusion
Chromosomal translocation
Pathology and Forensic Medicine
Lesion
03 medical and health sciences
0302 clinical medicine
Mammaglobin
Pregnancy
Eosinophilic
medicine
Neoplasm
Humans
Child
Original Paper
Salivary gland
biology
Proto-Oncogene Proteins c-ets
business.industry
Proto-Oncogene Proteins c-ret
GATA3
medicine.disease
Salivary Gland Neoplasms
Repressor Proteins
ETV6
030104 developmental biology
medicine.anatomical_structure
Oncology
Otorhinolaryngology
030220 oncology & carcinogenesis
biology.protein
Female
Mammary Analogue Secretory Carcinoma
medicine.symptom
business
Subjects
Details
- ISSN :
- 19360568
- Volume :
- 15
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Head and neck pathology
- Accession number :
- edsair.doi.dedup.....70c5b6d39f02400d0dcd10c865ec5d1c