Open Access

A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4‑ALK fusion gene

  • Authors:
    • Lucia Anna Muscarella
    • Giulio Rossi
    • Domenico Trombetta
    • Annamaria La Torre
    • Leonarda Di Candia
    • Maria Cecilia Mengoli
    • Angelo Sparaneo
    • Vito Michele Fazio
    • Paolo Graziano
  • View Affiliations

  • Published online on: December 14, 2016     https://doi.org/10.3892/ol.2016.5504
  • Pages:593-598
  • Copyright: © Muscarella et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Inflammatory myofibroblastic tumors (IMT) in the head and neck region are rare neoplasms that generally mimic benign/low‑grade neoplasms. Overexpression of anaplastic lymphoma kinase (ALK) has been reported in 50% of IMT cases, secondary to ALK activation by structural rearrangements in the ALK gene, which results in a fusion protein with echinoderm microtubule associated protein like 4 (EML4) in ~20% of cases. The present study describes a case of a 74‑year‑old woman with a malignant IMT in the right posterior hypopharynx harboring a previously unreported chromosomal rearrangement resulting in EML4 and ALK gene fusion. Strong ALK immunoreactivity was observed in neoplastic cells, while fluorescent in situ hybridization combined with fluorescent fragment analysis and direct sequencing identified the first case of the 3a/b variants of the EML4‑ALK fusion gene in IMT. The results of the current study highlight the uncommon occurrence of ALK‑positive IMT in the head/neck region and demonstrate the importance of integrating different molecular methodologies to identify unequivocal gene fusion characterization.

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February 2017
Volume 13 Issue 2

Print ISSN: 1792-1074
Online ISSN:1792-1082

2015 Impact Factor: 1.482
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APA
Muscarella, L.A., Rossi, G., Trombetta, D., La Torre, A., Di Candia, L., Mengoli, M.C. ... Graziano, P. (2017). A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4‑ALK fusion gene. Oncology Letters, 13, 593-598. https://doi.org/10.3892/ol.2016.5504
MLA
Muscarella, L. A., Rossi, G., Trombetta, D., La Torre, A., Di Candia, L., Mengoli, M. C., Sparaneo, A., Fazio, V. M., Graziano, P."A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4‑ALK fusion gene". Oncology Letters 13.2 (2017): 593-598.
Chicago
Muscarella, L. A., Rossi, G., Trombetta, D., La Torre, A., Di Candia, L., Mengoli, M. C., Sparaneo, A., Fazio, V. M., Graziano, P."A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4‑ALK fusion gene". Oncology Letters 13, no. 2 (2017): 593-598. https://doi.org/10.3892/ol.2016.5504