Aggressive angiomyxoma

Genetics

• HMGA2 rearrangement
  • by translocation t(12;21)(q15;q21.1)
  • by translocation t(11;12)(q23;q15)
  • by translocation t(8;12)(p12;q15)
• t(5;8)(p15;q22)

Pathology

Microscopy

• Vascular appearance of tumor
• Hypocellular mesenchymal lesion
• Spindled and stellate cells with an ill-defined cytoplasm
• Cells loosely scattered in a myxoid stroma
• No evidence of nuclear atypia and mitosis
• Numerous, thin-to-thick wall vessels of different sizes
• Myxoid, hypocellular background
• Bland cytological appearance of spindle cells

Microscopical views

File:Aggressive angiomyxoma.jpg File:Aggressive angiomyxoma 2.jpg File:Aggressive angiomyxoma 6.jpg File:Aggressive angiomyxoma humpath 8.jpg File:Aggressive angiomyxoma - high mag.jpg

Immunochemistry

Immunohistochemical studies show strong staining for desmin, estrogen receptors, and progesterone receptors. Staining for actin, CD34 and smooth muscle actin are intermediate. Staining for S-100 protein is negative.

Diagnosis

Differential diagnosis

• Myxoid tumors
  • Angiomyofibroblastoma

Prognosis

Although it is a benign tumour and does not invade neighbouring tissues, it has a tendency to recur after surgical excision so it is termed "aggressive". Recurrence can occur as early as six months from initial resection. Patients frequently present at tertiary medical centers with a history of labial mass (sometimes misdiagnosed as Gartner's cyst), with multiple surgical excisions from several surgeons. There is no standard medical therapy; agents reported to be effective in case reports include systemic hormonal therapy with SERMs such as tamoxifen or LHRH agonists (leuprolide), and cytotoxic ("traditional") chemotherapy, as well as radiation therapy especially for recurrent disease.

History

Aggressive angiomyxoma was originally described in 1983, but the term angiomyxoma dates back to at least 1952.

References

References

1. (2008). "Aggressive angiomyxoma of the vulva presenting as a pedunculated swelling". Indian J Pathol Microbiol.
2. (June 2007). "Aggressive angiomyxoma of the pelvis: a case report". Can J Surg.
3. (2008). "Aggressive angiomyxoma with t(12;21) and HMGA2 rearrangement: Report of a case and review of the literature". Cancer Genetics and Cytogenetics.
4. (2007). "Frequency and characterization of HMGA2 and HMGA1 rearrangements in mesenchymal tumors of the lower genital tract". Genes, Chromosomes and Cancer.
5. (2006). "Deregulation of HMGA2 in an aggressive angiomyxoma with t(11;12)(q23;q15)". Virchows Archiv.
6. (2001). "Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive angiomyxoma of the vulva". Genes, Chromosomes and Cancer.
7. (2012). "Aggressive angiomyxoma: An unusual presentation". Korean Journal of Radiology.
8. (November 2004). "A solitary encapsulated pelvic aggressive angiomyxoma". Ann R Coll Surg Engl.
9. RAEBURN C. (November 1952). "The histogenesis of four cases of angiomyxoma of the auricle". J. Clin. Pathol..