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Rhabdoid Tumor Predisposition Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
While multimodality chemotherapy has improved survival, it appears there is quite a long way to go. For those who survive this disease, other disease manifestations may result. One group described a case of a boy who developed a rhabdoid tumor at 8 years of age. He was found to have a SMARCB1 germline mutation. Five years later, at 13 years of age, he developed a conventional chondrosarcoma of the mandible [37]. Pediatric chondrosarcomas are exceedingly rare; what made this case even more relevant was that his chondrosarcoma demonstrated loss of INI-1 as well. This was one of the earliest cases described where a survivor of a rhabdoid tumor went on to develop a secondary tumor [37]. A second group described a patient, also a boy, who was originally diagnosed with an atypical teratoid/rhabdoid tumor at age 3. He survived, but then went on to develop a mammary analog secretory carcinoma at age 14 [38]. In this case, however, INI-1 or SMARCA4 immunohistochemistry was not performed, so it is uncertain whether this is related to germline mutation of SMARCB1 or SMARCA4 [6,38].
Surgical and other investigations
Published in John Dudley Langdon, Mohan Francis Patel, Robert Andrew Ord, Peter Brennan, Operative Oral and Maxillofacial Surgery, 2017
As tumours are increasingly studied at the molecular level, the list of identified tumour-specific and defining translocations grows by the year. Study of salivary gland tumours at the genetic level is one example where in recent times; new information gained from these studies has led to addition of a new entity to the classification, namely mammary analogue secretory carcinoma. Rather than this being a newly occurring tumour, it is most likely that these have previously been designated as acinic cell carcinoma. Information gained from molecular investigation may in future be used to provide prognostic information or guide treatment.
Genomics in non-adenoid cystic group of salivary gland cancers: one or more druggable entities?
Published in Expert Opinion on Investigational Drugs, 2019
Stefano Cavalieri, Francesca Platini, Cristiana Bergamini, Carlo Resteghini, Donata Galbiati, Paolo Bossi, Federica Perrone, Elena Tamborini, Pasquale Quattrone, Lisa Licitra, Laura Deborah Locati, Salvatore Alfieri
Tropomyosin receptor kinases (TRK) are a group of transmembrane receptors binding nerve growth factor (NGF). In 2010, Skalova et al. first described a subset of salivary gland cancers, formerly diagnosed as acinic cell carcinoma or cystadenocarcinoma, resembling secretory carcinoma of the breast and bearing t(12;15) (p13;q25) ETV6-NTRK3 translocation [42]. Thereafter, this particular tumor type was recognized as mammary analogue secretory carcinoma (MASC) becoming a specific pathologic entity in the landscape of non-ACC group included in the WHO classification for the first time in 2017. Besides, it is worth noticing that not all secretory carcinomas have NTRK3 as fusion partner, a subset has an ETV6-RET fusion which is shared only with a rare subtype of sinonasal carcinoma [43–45]. MASC is usually indolent, and patients are effectively cured by loco-regional treatments. Thus, systemic therapies are not indicated except for sporadic cases of metastatic disease. Specific drugs, as entrectinib [46] and larotrectinib [47], exert a pan-TRK blockade, including the product of ETV6-NTRK3 translocation. TRK inhibitors showed activity in cases of recurrent or metastatic mammary analogue secretory carcinoma [48]. An impressive activity of entrectinib within three phase I/II basket trials (ALKA, STARTRK-1, STARTRK-2) was recently reported across tumors harboring NTRK rearrangement [49]. Due to these promising results, all patients with advanced ETV6-NTRK3 translocated mammary analogue secretory carcinomas requiring systemic therapies deserve to be treated with TRK inhibitors.
Metastatic salivary gland mammary analogue secretory carcinoma (MASC) of parotid gland – A rare case report in the literature review
Published in Acta Oto-Laryngologica Case Reports, 2023
Aynur Aliyeva, Ziya Karimov, Togay Muderris
Firstly Skálová et al. in 2010 reported Mammary Analogue Secretory Carcinoma (MASC) as a tumor of the salivary gland that mimics histologically and genetically breast Secretory Carcinoma (SCs) [1]. MASC was present in the mid-40s with a slight male dominance. It was usually misdiagnosed as salivary Acinic Cell Carcinoma (AciCC), because the central nuclei in tumor cells found in salivary gland malignancies are similarly based on their histological features, such as cytoplasm with pink granules or vacuoles. Reclassifying salivary gland pathologies was needed as retrospective scans revealed misdiagnosis cases [1–3]. Several methods must be combined to distinguish MASC from other tumors definitively. If there is a suspected histopathological pre-diagnosis, such as Acinic Cell Carcinoma, two diagnostic methods should be added: Immunohistochemistry and Gene-translocation determination. In immunohistochemistry, markers such as DOG1, PASD, S100, and mammaglobin should be used. Only the characteristic t(12;15) (q13;q25) translocation that results in the ETV6 gene and the ETV6-NTRK3 fusion gene should be determined to confirm the diagnosis of MASC. In some studies, t(12;15) (q13;q25) translocation, NTRK3 gene on chromosome 15, and ETV6 fusion on chromosome 12 were reported in the tumor [4,5]. But ETV6-NTRK3 gene fusion is not typical for AciCC. The complaint of a slowly growing and painless mass can usually be observed in the parotid glands and sometimes in other minor salivary glands Although over 80 cases of MASC have been reported in the available literature by January 2022, definitive guidelines for clinical evaluation and management for this tumor, have not yet been defined [1–3,6–9]. To contribute to the literature, we present the management of a patient who underwent deep lobe parotidectomy and neck dissection and whose final histopathology was MASC. This case report is eligible for the SCARE criteria [10].
A Parotid Gland Mammary Analogue Secretory Carcinoma in a 4-Year-Old Boy: Case Report and Literature Review
Published in Fetal and Pediatric Pathology, 2023
Zhao Meng, Wu Si, Zhu Xiuli, Yueping Liu
Mammary analogue secretory carcinoma (MASC) is a recently described salivary gland tumor with a specific genetic alteration: the ETV6 gene rearrangement [1,2]. It shares similar histopathological and immunohistochemical characteristics with secretory breast carcinoma. MASC expresses S100 and harbors a t(12;15)(p13;q25) translocation that results in an ETV6–NTRK3 fusion product. The diagnosis of MASC is confirmatory if the gene rearrangement is positive [3].