ALK-1 protein expression and alk gene rearrangements aid in the diagnosis of inflammatory myofibroblastic tumors of the female genital tract

Neil E. Fuehrer, Gary Keeney, Rhett P. Ketterling, Ryan A. Knudson, Debra A. Bell

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Abstract

Context.-Inflammatory myofibroblastic tumor is a predominantly benign, spindle cell, mesenchymal neoplasm with myxoid areas that occurs rarely in the female genital tract and may be confused with other spindle cell lesions, particularly leiomyosarcoma. Objective.-To investigate the utility of detecting anaplastic lymphoma kinase-1 protein expression and ALK gene rearrangements in the diagnosis of inflammatory myofibroblastic tumors in the female genital tract. Design.-Eight inflammatory myofibroblastic tumors arising in the female genital tract and seen in consultation (from 2004 to 2011) were reviewed. Immunohistochemistry for anaplastic lymphoma kinase-1 and fluorescence in-situ hybridization studies for ALK gene rearrangements were performed. Results.-The anatomic sites included myometrium (4 cases) and endometrium, fallopian tube, cervix, and a cervical polyp (1 each), with a patient age range from 25 to 52 years. Histologic features ranged from bland spindle cells to striking cytologic atypia, embedded in a prominent myxoid background. Anaplastic lymphoma kinase-1 immunohistochemistry was positive in 7 cases. Fluorescence in-situ hybridization studies detected ALK gene rearrangements in 5 cases. Five cases had both immunopositivity and fluorescence in-situ hybridization abnormalities, 2 cases had immunopositivity only, and 1 case was negative by both methods. Conclusions.-This is the first report, to our knowledge, of ALK gene rearrangements in inflammatory myofibroblastic tumors in the female genital tract. If a myxoid background is appreciated in a spindle cell lesion of the female genital tract, especially if inflammatory cells are present, anaplastic lymphoma kinase-1 staining along with fluorescence in situ hybridization studies, for ALK gene rearrangements, may aid in distinguishing inflammatory myofibroblastic tumors from their malignant mimics.

Original languageEnglish (US)
Pages (from-to)623-626
Number of pages4
JournalArchives of Pathology and Laboratory Medicine
Volume136
Issue number6
DOIs
StatePublished - Jun 2012

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Gene Rearrangement
Fluorescence In Situ Hybridization
Neoplasms
Proteins
Immunohistochemistry
Fallopian Tubes
Leiomyosarcoma
Myometrium
Endometrium
Polyps
Cervix Uteri
Referral and Consultation
Staining and Labeling
anaplastic lymphoma kinase

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Medical Laboratory Technology

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ALK-1 protein expression and alk gene rearrangements aid in the diagnosis of inflammatory myofibroblastic tumors of the female genital tract. / Fuehrer, Neil E.; Keeney, Gary; Ketterling, Rhett P.; Knudson, Ryan A.; Bell, Debra A.

In: Archives of Pathology and Laboratory Medicine, Vol. 136, No. 6, 06.2012, p. 623-626.

Research output: Contribution to journalArticle

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abstract = "Context.-Inflammatory myofibroblastic tumor is a predominantly benign, spindle cell, mesenchymal neoplasm with myxoid areas that occurs rarely in the female genital tract and may be confused with other spindle cell lesions, particularly leiomyosarcoma. Objective.-To investigate the utility of detecting anaplastic lymphoma kinase-1 protein expression and ALK gene rearrangements in the diagnosis of inflammatory myofibroblastic tumors in the female genital tract. Design.-Eight inflammatory myofibroblastic tumors arising in the female genital tract and seen in consultation (from 2004 to 2011) were reviewed. Immunohistochemistry for anaplastic lymphoma kinase-1 and fluorescence in-situ hybridization studies for ALK gene rearrangements were performed. Results.-The anatomic sites included myometrium (4 cases) and endometrium, fallopian tube, cervix, and a cervical polyp (1 each), with a patient age range from 25 to 52 years. Histologic features ranged from bland spindle cells to striking cytologic atypia, embedded in a prominent myxoid background. Anaplastic lymphoma kinase-1 immunohistochemistry was positive in 7 cases. Fluorescence in-situ hybridization studies detected ALK gene rearrangements in 5 cases. Five cases had both immunopositivity and fluorescence in-situ hybridization abnormalities, 2 cases had immunopositivity only, and 1 case was negative by both methods. Conclusions.-This is the first report, to our knowledge, of ALK gene rearrangements in inflammatory myofibroblastic tumors in the female genital tract. If a myxoid background is appreciated in a spindle cell lesion of the female genital tract, especially if inflammatory cells are present, anaplastic lymphoma kinase-1 staining along with fluorescence in situ hybridization studies, for ALK gene rearrangements, may aid in distinguishing inflammatory myofibroblastic tumors from their malignant mimics.",
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