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Oral spindle cell/sclerosing rhabdomyosarcoma on mandible with anaplastic lymphoma kinase expression mimicking inflammatory myofibroblastic tumor

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초록

Oral spindle cell/sclerosing rhabdomyosarcoma (SCRMS) with anaplastic lymphoma kinase (ALK) expression is extremely rare, and its diagnosis is very challenging in the absence of clinical or pathological indicators. This case presented with gingival swelling and alveolar bone resorption and was suspected clinically to be periodontitis. A biopsy was performed and, due to immunoreactivity with ALK, the patient was misdiagnosed with inflammatory myofibroblastic tumor. However, based on the combined histological and immunohistochemical features, a revised diagnosis of SCRMS with ALK expression was finally concluded. We believe that this report makes a significant contribution to the precise diagnosis of this rare disease for proper treatment.

Abstract

Oral spindle cell/sclerosing rhabdomyosarcoma (SCRMS) with anaplastic lymphoma kinase (ALK) expression is extremely rare, and its diagnosis is very challenging in the absence of clinical or pathological indicators. This case presented with gingival swelling and alveolar bone resorption and was suspected clinically to be periodontitis. A biopsy was performed and, due to immunoreactivity with ALK, the patient was misdiagnosed with inflammatory myofibroblastic tumor. However, based on the combined histological and immunohistochemical features, a revised diagnosis of SCRMS with ALK expression was finally concluded. We believe that this report makes a significant contribution to the precise diagnosis of this rare disease for proper treatment.

참고문헌 (11)

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  2. World Health Organization (WHO) Classification of Tumours Editorial Board, "WHO Classification of tumours: soft tissue and bone tumours" (2020), IARC Press
  3. Nascimento AF, "Spindle cell rhabdomyosarcoma in adults", Am J Surg Pathol, 29, pp.1106~1113 (2005)
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  5. Corao DA, "ALK expression in rhabdomyosarcomas : correlation with histologic subtype and fusion status", Pediatr Dev Pathol, 12, pp.275~283 (2009)[DOI]
  6. Le Loarer F, "A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation", Mod Pathol, 33, pp.404~419 (2020)[DOI]
  7. Li XQ, "Expression of anaplastic lymphoma kinase in soft tissue tumors : an immunohistochemical and molecular study of 249 cases", Hum Pathol, 35, pp.711~721 (2004)[DOI]
  8. van Gaal JC, "Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma : clinical and prognostic implications", J Clin Oncol, 30, pp.308~315 (2012)[DOI]
  9. Yoshida A, "Anaplastic lymphoma kinase status in rhabdomyosarcomas", Mod Pathol, 26, pp.772~781 (2013)[DOI]
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  11. Hartmann S, "An adult spindle cell rhabdomyosarcoma in the head and neck region with long-term survival : a case report", J Med Case Rep, 8, pp.208~ (2014)[DOI]

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