Myoepithelial carcinoma treatment in children: A report from the <scp>TREP</scp> project

Bisogno, Gianni; Tagarelli, Arianna; Schiavetti, Amalia; Scarzello, Giovanni; Ferrari, Andrea; Cecchetto, Giovanni; Alaggio, Rita

doi:10.1002/pbc.24818

Cited by 35 publications

(35 citation statements)

References 15 publications

(16 reference statements)

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“…Of these, only one patient demonstrated a clinical response, seen after multiple cycles of doxorubicin and ifosfamide due to metastasis following initial tumor excision. An additional series of 7 non-metastatic, pediatric patients reported favorable outcomes following a regimen utilizing cisplatin with six patients remaining without evidence of disease at a mean follow-up of 2.5 years [20]. Three of the seven tumors had EWSR1 rearrangement which was previously identified in series where it was associated with superficial location and more likely to be benign [12, 21].…”

Section: Discussionmentioning

confidence: 99%

Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

et al. 2017

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BackgroundMyoepithelial carcinoma of soft tissue is a rare, malignant neoplasm that is morphologically and immunophenotypically similar to its counterpart in salivary gland. It demonstrates myoepithelial differentiation, possessing both epithelial and myogenic characteristics. Thought to be chemotherapy insensitive, the optimal treatment regimen of this tumor has yet to be established and only a select few cases in the literature discuss treatment efficacy in detail.Case presentationHere we present a case of a young adult with metastatic myoepithelial carcinoma with an initial excellent response to systemic therapy utilizing carboplatin and paclitaxel with continued complete response after 3 years. The patient also underwent complete surgical excision and received adjuvant radiation to the primary site of disease. Exome sequencing revealed an inactivating mutation in RB1 which we believe to be the first such mutation to be reported in this cancer type.ConclusionsGiven increasing evidence suggesting RB1 loss is associated with responsiveness to conventional chemotherapies, particularly platinum-based regimens, we hypothesize that this genetic feature predisposed chemosensitivity in our patient’s tumor.

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Section: Discussionmentioning

confidence: 99%

Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

et al. 2017

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“…One of these cases (case 4) was previously published as a case report,(18) and another case (case 3) was included as part of a series of soft tissue myoepithelial carcinomas due to its EWSR1 gene rearrangement. (23, 24) Each case was examined by routine light microscopy, immunohistochemistry, and fluorescence in situ hybridization (FISH).…”

Section: Methodsmentioning

confidence: 99%

Adamantinoma-like Ewing Family Tumors of the Head and Neck

Bishop

Alaggio

Zhang

et al. 2015

American Journal of Surgical Pathology

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140

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The Ewing sarcoma family of tumors (EFTs) of the head and neck are rare and may be difficult to diagnose as they display significant histologic overlap with other more common undifferentiated small blue round cell malignancies. Occasionally, EFTs may exhibit overt epithelial differentiation in the form of diffuse cytokeratin immunoexpression or squamous pearls, resembling the so-called adamantinoma-like EFTs and being challenging to distinguish from bona-fide carcinomas. Furthermore, the presence of EWSR1 gene rearrangement correlated with strong keratin expression may suggest a myoepithelial carcinoma. Herein we analyze a series of 7 adamantinoma-like EFTs of the head and neck, most of them being initially misdiagnosed as carcinomas due to their anatomic location and strong cytokeratin immunoexpression, and subsequently reclassified as EFT by molecular techniques. The tumors arose in the sinonasal tract (n=2), parotid gland (n=2), thyroid gland (n=2), and orbit (n=1), in patients ranging from 7 to 56 years (mean, 31). Microscopically they departed from the typical EFT morphology by growing as nests with peripheral nuclear palisading and prominent interlobular fibrosis, imparting a distinctly basaloid appearance. Moreover, two cases exhibited overt keratinization in the form of squamous pearls and one sinonasal tumor demonstrated areas of intraepithelial growth. All cases were positive for CD99, pan-cytokeratin, and p40. A subset of cases showed synaptophysin, S100 protein, and/or p16 reactivity, further confounding the diagnosis. FISH assays showed EWSR1 and FLI1 rearrangements in all cases. Our results reinforce that a subset of head and neck EFT may show strong cytokeratin expression or focal keratinization, and thus indistinguishable from more common true epithelial neoplasms. Thus CD99 should be included in the immunopanel of a round cell malignancy regardless of strong cytokeratin expression or anatomic location, and a strong and diffuse CD99 positivity should prompt molecular testing for the presence of EWSR1 gene rearrangements.

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“…Although our patient did not respond to conventional chemotherapy regimens used in soft tissue sarcoma, others have reported some favorable responses with doxorubicin-based chemotherapy. 22,23 Platinum-based regimens commonly used in carcinomas were also reported to be active. 24,25 In view of the lack of prospective data, patients with myoepithelial tumors should be offered participation in clinical trials of novel agents.…”

Section: Discussionmentioning

confidence: 99%

Myoepithelial Carcinoma of the Paracecal Mesentery: Aggressive Behavior of a Rare Neoplasm at an Unusual Anatomic Site

et al. 2016

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Myoepithelial tumors of the soft tissues represent a rare group of neoplasms that vary in their clinical behavior, pathologic features and genetics. They are histopathologically typified by a myoepithelial immunohistochemical phenotype, of expression of one or more epithelial markers, S100 protein and smooth muscle actin. Because of their rarity and occurrence over a wide age range and at a variety of anatomic sites, they can be difficult to diagnose due to the lack of familiarity by physicians, which is compounded by their spectrum of histologic features and morphologic overlap with several other neoplasms. Recent genetic insights have aided classification, and it is increasingly understood that soft tissue myoepithelial neoplasms can be stratified into two distinct morphologic and genetic subgroups. We describe a case of a 44-year-old man who was diagnosed with a primary myoepithelial neoplasm of the paracecal mesentery, which showed aggressive local recurrence after four years. The tumor was composed of cords of ovoid cells within chondromyxoid stroma, and displayed a characteristic pancytokeratin, S100 protein and smooth muscle actin-positive myoepithelial immunoprofile. Primary myoepithelioma has not been previously described at this site, and this case highlights this varied family of tumors, emphasizes the need to consider myoepithelial tumor in the differential diagnoses of carcinoma variants occurring in the bowel or mesentery, and also adds to the number of reported myoepithelial neoplasms showing markedly aggressive behavior.

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Myoepithelial carcinoma treatment in children: A report from the TREP project

Cited by 35 publications

References 15 publications

Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

Myoepithelial carcinoma with RB1 mutation: remarkable chemosensitivity to carcinoma of unknown origin therapy

Adamantinoma-like Ewing Family Tumors of the Head and Neck

Myoepithelial Carcinoma of the Paracecal Mesentery: Aggressive Behavior of a Rare Neoplasm at an Unusual Anatomic Site

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