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paratesticular leiomyoma

Tuesday 20 December 2011

Subtypes

- bilateral paratesticular leiomyoma (16236398, 16950754)

Etiology

- der(14)t(12;14)(q15;q24) (21962898)

- complete androgen insensitivity syndrome (CAIS) (16950754, 16236398)

Cytogenetics

- t(5;14)(q31;q24)
- t(12;14)(q15;q24)

  • strong immunohistochemical nuclear expression of the HMGA2 protein
  • HMGA2 as the target gene in 12q14∼15 rearrangements.
  • In uterine leiomyomas, the t(12;14)(q15;q24) is the most frequent translocation leading to overexpression of HMGA2.
  • It seems that a common pathogenetic pathway exists for benign smooth muscle tumors of both the female and male reproductive organs.

References

- Paratesticular leiomyoma with a der(14)t(12;14)(q15;q24). Gorunova L, Bjerkehagen B, Heim S. Cancer Genet. 2011 Aug;204(8):465-8. PMID: 21962898

- R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata. Goulis DG, Iliadou PK, Papanicolaou A, Georgiou I, Chatzikyriakidou A, Gerou S, Bondis IN, Papadimas I. Hormones (Athens). 2006 Jul-Sep;5(3):200-4. Erratum in: Hormones (Athens). 2006 Oct-Dec;5(4):following 311. PMID: 16950754 [Free]

- [Feminizing testicular syndrome with multiple hamartomas and bilateral paratesticular leiomyomas]. Krichen Makni S, Mnif Hachicha L, Ellouze S, Mnif M, Khabir A, Ketata H, Abid M, Sellami Boudawara T. Rev Med Interne. 2005 Dec;26(12):980-3. PMID: 16236398