Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults: A Clinicopathologic and Immunophenotypic Study of Fifty-Two Cases with Emphasis on Epithelial Immunoreactivity View Full Text


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Article Info

DATE

2017-09-05

AUTHORS

Lester D. R. Thompson, Vickie Y. Jo, Abbas Agaimy, Antonio Llombart-Bosch, Gema Nieto Morales, Isidro Machado, Uta Flucke, Paul E. Wakely, Markku Miettinen, Justin A. Bishop

ABSTRACT

Sinonasal tract (SNT) alveolar rhabdomyosarcoma (ARMS) are frequently misdiagnosed, especially in adults. Fifty-two adult (≥18 years) patients with SNT ARMS were reviewed and characterized by immunohistochemistry and molecular studies. Twenty-six females and 26 males (18–72 years; mean 43.2 years), presented after a short duration (mean 2.6 months) with a large (mean 5.5 cm) destructive nasal cavity mass, involving multiple contiguous paranasal sites (n = 46) and with cervical adenopathy (n = 41). The tumors showed an alveolar, nested to solid growth pattern below an intact, but often involved (n = 9) epithelium with frequent necrosis (n = 37), destructive bone invasion (n = 30), and lymphovascular invasion (n = 25). The neoplastic cells were dyshesive and dilapidated, with crush artifacts. Rhabdoid features (n = 36) and tumor cell multinucleation (n = 28) were common. Mitotic counts were high (mean 17/10 HPFs). The neoplastic cells showed the following immunohistochemical positive findings: desmin (100%), myogenin (100%), MYOD1 (100%), MSA (96%), SMA (52%), CAM5.2 (50%), AE1/AE3 (36%); other positive markers included S100 protein (27%), CD56 (100%), synaptophysin (35%), and chromogranin (13%). Overall, 54% show epithelial marker reactivity. Molecular studies showed FOXO1 translocations (81%) with PCR demonstrating PAX3 in 72.7% tested. Patients presented with high stage (IV 24; III 26) and metastatic disease (lymph nodes n = 41; distant metastases n = 25) (IRSG grouping). Surgery (n = 16), radiation (n = 41) and chemotherapy (n = 45) yielded an overall survival of 36.1 months (mean; range 2.4–286); 18 alive without disease (mean 69.6 months); 7 alive with disease (mean 11.0 months); 1 dead without disease (63.7 months); and 26 dead with disease (mean 18.5 months). SNT ARMS frequently present in adults as a large, destructive midline mass of short symptom duration, with high stage disease. The alveolar to solid pattern of growth of cells with rhabdoid-plasmacytoid features suggests the diagnosis, but epithelial immunohistochemistry markers are present in 54% of cases, leading to misdiagnosis as carcinomas if muscle markers are not also performed. Overall survival of 36.1 months is achieved with multimodality therapy, but 64% have incurable disease (16.9 months). Mixed anatomic site (p = 0.02) was a significant adverse prognostic indicator, while stage (0.06) and tumor size >5 cm (0.06) approached marginal significance. More... »

PAGES

181-192

References to SciGraph publications

  • 2016-02-01. Newly Described Tumor Entities in Sinonasal Tract Pathology in HEAD AND NECK PATHOLOGY
  • 2017-02-28. Update From the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumours of the Ear in HEAD AND NECK PATHOLOGY
  • 2014-06-29. Primary Sinonasal Mucosal Melanoma with Aberrant Diffuse and Strong Desmin Reactivity: A Potential Diagnostic Pitfall! in HEAD AND NECK PATHOLOGY
  • 2007-09. Non-Small Cell Neuroendocrine Carcinoma of the Sinonasal Tract and Nasopharynx. Report of 2 Cases and Review of the Literature in HEAD AND NECK PATHOLOGY
  • 2017-02-28. Update from the 4th Edition of the World Health Organization Classification of Head and Neck Tumours: Tumors of the Nasal Cavity, Paranasal Sinuses and Skull Base in HEAD AND NECK PATHOLOGY
  • 2002-03-01. Neuroectodermal Neoplasms of the Head and Neck with Emphasis on Neuroendocrine Carcinomas in MODERN PATHOLOGY
  • 2017-01-06. Small round blue cell tumors of the sinonasal tract: a differential diagnosis approach in MODERN PATHOLOGY
  • 2015-03-11. Rhabdomyoblastic Differentiation in Head and Neck Malignancies Other Than Rhabdomyosarcoma in HEAD AND NECK PATHOLOGY
  • 2008-05-16. Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall in MODERN PATHOLOGY
  • 2012-03-20. Ectopic Sphenoid Sinus Pituitary Adenoma (ESSPA) with Normal Anterior Pituitary Gland: A Clinicopathologic and Immunophenotypic Study of 32 Cases with a Comprehensive Review of the English Literature in HEAD AND NECK PATHOLOGY
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    http://scigraph.springernature.com/pub.10.1007/s12105-017-0851-9

    DOI

    http://dx.doi.org/10.1007/s12105-017-0851-9

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/28875443


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