Testicular adrenal rest tumour

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Testicular adrenal rest tumour, abbreviated TART, is a rare tumour associated with increased adrenocorticotropic hormone (ACTH), typically seen in the context of congenital adrenal hyperplasia.[1]

Testicular adrenal rest tumour
Diagnosis in short

Testicular adrenal rest tumour. H&E stain.

LM nests of eosinophilic cells interspersed with thin bands of fibrous tissue, mild (endocrine) nuclear atypia
LM DDx Leydig cell tumour, adrenal cortical rest
IHC melan A +ve
Site testis

Associated Dx congenital adrenal hyperplasia
Signs testicular masses (bilateral)
Prevalence extremely rare
Blood work serum ACTH elevated
Prognosis benign
Clin. DDx other testicular masses

General

  • Very rare.
  • Benign.[2]
  • May overlap with Leydig cell tumour - see molecular section.
  • Associated with congenital adrenal hyperplasia (abbreviated CAH).
    • Due to mutation in CYP21A2.[3]
    • TART prevalence increases with age - one study suggests moderate prevalance at age 10, increasing to 100% of individuals with CAH over 16 years of age.[4]

Clinical:

  • Serum ACTH elevated.

Gross

  • Bilateral testicular masses.

Microscopic

Features:

  • Nests of eosinophilic cells interspersed with thin bands of fibrous tissue.
  • Mild (endocrine) nuclear atypia.

DDx:

Images

www

Case

IHC

Molecular

  • Molecular characteristics are in keeping with adrenal tissue; however, some Leydig cell markers active.[2]
  • Mutation in CYP21A2 causative of congenital adrenal hyperplasia.[3]

See also

References

  1. Olpin, JD.; Witt, B. (Feb 2014). "Testicular adrenal rest tumors in a patient with congenital adrenal hyperplasia.". J Radiol Case Rep 8 (2): 46-53. doi:10.3941/jrcr.v8i2.1489. PMID 24967019.
  2. 2.0 2.1 Smeets, EE.; Span, PN.; van Herwaarden, AE.; Wevers, RA.; Hermus, AR.; Sweep, FC.; Claahsen-van der Grinten, HL. (Mar 2015). "Molecular characterization of testicular adrenal rest tumors in congenital adrenal hyperplasia: lesions with both adrenocortical and Leydig cell features.". J Clin Endocrinol Metab 100 (3): E524-30. doi:10.1210/jc.2014-2036. PMID 25485724.
  3. 3.0 3.1 Mouritsen, A.; Jørgensen, N.; Main, KM.; Schwartz, M.; Juul, A. (Jun 2010). "Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation.". Int J Androl 33 (3): 521-7. doi:10.1111/j.1365-2605.2009.00967.x. PMID 19531083.
  4. Claahsen-van der Grinten, HL.; Dehzad, F.; Kamphuis-van Ulzen, K.; de Korte, CL. (2014). "Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia.". Horm Res Paediatr 82 (4): 238-44. doi:10.1159/000365570. PMID 25195868.
  5. Mizukami, H.; Hamamatsu, A.; Mori, S.; Hara, S.; Kuroda, M.; Nagai, T.; Fukunaga, T. (Mar 2011). "Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year.". Forensic Sci Int 206 (1-3): e71-5. doi:10.1016/j.forsciint.2010.09.017. PMID 20951518.
  6. 6.0 6.1 Ali, HH.; Samkari, A.; Arabi, H. (Jan 2013). "Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review.". Avicenna J Med 3 (1): 15-9. doi:10.4103/2231-0770.112789. PMID 23984262.