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A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4-ALK fusion gene.
Oncol Lett 2017; 13(2):593-598OL

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.

Authors+Show Affiliations

Laboratory of Oncology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Pathologic Anatomy Unit, University Hospital Policlinico, I-41124 Modena, Italy.Laboratory of Oncology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Laboratory of Oncology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Unit of Pathology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Pathologic Anatomy Unit, University Hospital Policlinico, I-41124 Modena, Italy.Laboratory of Oncology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Laboratory of Oncology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.Unit of Pathology, Scientific Institute for Research and Healthcare, Casa Sollievo della Sofferenza, I-71013 San Giovanni Rotondo, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28356934

Citation

Muscarella, Lucia Anna, et al. "A Malignant Inflammatory Myofibroblastic Tumor of the Hypopharynx Harboring the 3a/b Variants of the EML4-ALK Fusion Gene." Oncology Letters, vol. 13, no. 2, 2017, pp. 593-598.
Muscarella LA, Rossi G, Trombetta D, et al. A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4-ALK fusion gene. Oncol Lett. 2017;13(2):593-598.
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(2), pp. 593-598. doi:10.3892/ol.2016.5504.
Muscarella LA, et al. A Malignant Inflammatory Myofibroblastic Tumor of the Hypopharynx Harboring the 3a/b Variants of the EML4-ALK Fusion Gene. Oncol Lett. 2017;13(2):593-598. PubMed PMID: 28356934.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A malignant inflammatory myofibroblastic tumor of the hypopharynx harboring the 3a/b variants of the EML4-ALK fusion gene. AU - Muscarella,Lucia Anna, AU - Rossi,Giulio, AU - Trombetta,Domenico, AU - La Torre,Annamaria, AU - Di Candia,Leonarda, AU - Mengoli,Maria Cecilia, AU - Sparaneo,Angelo, AU - Fazio,Vito Michele, AU - Graziano,Paolo, Y1 - 2016/12/14/ PY - 2016/07/05/received PY - 2016/09/13/accepted PY - 2017/3/31/entrez PY - 2017/3/31/pubmed PY - 2017/3/31/medline KW - anaplastic lymphoma kinase KW - echinoderm microtubule associated protein like 4 KW - fusion variants KW - inflammatory myofibroblastic tumor KW - molecular markers SP - 593 EP - 598 JF - Oncology letters JO - Oncol Lett VL - 13 IS - 2 N2 - 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. SN - 1792-1074 UR - https://www.unboundmedicine.com/medline/citation/28356934/A_malignant_inflammatory_myofibroblastic_tumor_of_the_hypopharynx_harboring_the_3a/b_variants_of_the_EML4_ALK_fusion_gene_ L2 - https://www.ingentaconnect.com/openurl?genre=article&issn=1792-1074&volume=13&issue=2&spage=593&aulast=Muscarella DB - PRIME DP - Unbound Medicine ER -