Inflammatory myofibroblastic tumour of the rectum with a novel anaplastic lymphoma kinase fusion diagnosed on cytology: Not just another submucosal gastrointestinal stromal tumour!

Cytopathology. 2022 May;33(3):397-401. doi: 10.1111/cyt.13108. Epub 2022 Feb 16.

Abstract

Inflammatory myofibroblastic tumours (IMT) are spindle cell neoplasms most commonly seen in the lungs, with a wide variety of less common extrapulmonary sites including the mesentery, omentum, and intrabdominal sites. On cytological evaluation, these tumours can be difficult to diagnose, given the morphological mimics of other submucosal spindle cell neoplasms, which may be compounded by the relatively small amount of tissue and the uncommon nature of the diagnosis. Immunohistochemical staining and molecular studies for the ALK gene can prove useful for diagnosing this tumour. We present the cytological features of an IMT occurring in the rectum, the differential diagnoses, useful immunohistochemical staining patterns, and the additional finding of a novel ALK-fusion in this entity.

Keywords: ALK fusion; PABPC1; PABPC1-ALK fusion; inflammatory myofibroblastic tumour.

Publication types

  • Case Reports

MeSH terms

  • Anaplastic Lymphoma Kinase / genetics
  • Gastrointestinal Stromal Tumors* / diagnosis
  • Gastrointestinal Stromal Tumors* / genetics
  • Granuloma, Plasma Cell* / pathology
  • Humans
  • Rectal Neoplasms*
  • Rectum / pathology

Substances

  • Anaplastic Lymphoma Kinase