Advertisement

Familial Cancer

, Volume 17, Issue 3, pp 381–385 | Cite as

Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome

  • Jesse P. Wright
  • Kathleen W. Montgomery
  • Joshua Tierney
  • Jill Gilbert
  • Carmen C. Solórzano
  • Kamran Idrees
Short Communication

Abstract

Adrenocortical carcinoma (ACC) is rare within the adult population. Ectopic ACC proves even rarer. This variant is formed by cortical fragments arrested during embryologic migration. ACC is also known to be associated with several genetic syndromes and has recently been linked to Lynch syndrome in 3% of cases. We present the case of a 68-year-old male with a confirmed diagnosis of Lynch syndrome secondary to a germline MSH2 mismatch-repair gene-mutation who presented with 2 months history of non-specific abdominal pain. After imaging work-up, the patient was found to have a right upper quadrant, retroperitoneal mass. Biochemical tests were without any evidence of a hormonally active process. Fine needle aspiration of the mass revealed a poorly differentiated carcinoma of unknown etiology. The lesion was resected and found to be consistent with ectopic ACC with an associated MSH2 mutation.

Keywords

Adrenocortical carcinoma Lynch syndrome Ectopic ACC Adrenal rests 

Notes

Compliance with ethical standards

Conflict of interest

The authors report no conflicts of interest.

References

  1. 1.
    Else T, Kim AC, Sabolch A, Raymond VM, Kandathil A, Caoili EM, Jolly S, Miller BS, Giordano TJ, Hammer GD (2014) Adrenocortical carcinoma. Endocr Rev 35(2):282–326. doi: 10.1210/er.2013-1029 CrossRefPubMedGoogle Scholar
  2. 2.
    Erickson LA, Rivera M, Zhang J (2014) Adrenocortical carcinoma: review and update. Adv Anat Pathol 21(3):151–159. doi: 10.1097/pap.0000000000000019 CrossRefPubMedGoogle Scholar
  3. 3.
    Goren E, Engelberg IS, Eidelman A (1991) Adrenal rest carcinoma in hilum of kidney. Urology 38(2):187–190CrossRefPubMedGoogle Scholar
  4. 4.
    Yokoyama H, Adachi T, Tsubouchi K, Tanaka M, Sasano H (2013) Non-functioning adrenocortical carcinoma arising in an adrenal rest: immunohistochemical study of an adult patient. Tohoku J Exp Med 229(4):267–270CrossRefPubMedGoogle Scholar
  5. 5.
    Lerario AM, Moraitis A, Hammer GD (2014) Genetics and epigenetics of adrenocortical tumors. Mol Cell Endocrinol 386(1–2):67–84. doi: 10.1016/j.mce.2013.10.028 CrossRefPubMedGoogle Scholar
  6. 6.
    Raymond VM, Everett JN, Furtado LV, Gustafson SL, Jungbluth CR, Gruber SB, Hammer GD, Stoffel EM, Greenson JK, Giordano TJ, Else T (2013) Adrenocortical carcinoma is a Lynch syndrome-associated cancer. J Clin Oncol 31(24):3012–3018. doi: 10.1200/jco.2012.48.0988 CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Barrow E, Hill J, Evans DG (2013) Cancer risk in Lynch Syndrome. Fam Cancer 12(2):229–240. doi: 10.1007/s10689-013-9615-1 CrossRefPubMedGoogle Scholar
  8. 8.
    Carethers JM, Stoffel EM (2015) Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer. World J Gastroenterol 21(31):9253–9261. doi: 10.3748/wjg.v21.i31.9253 CrossRefPubMedPubMedCentralGoogle Scholar
  9. 9.
    Vasen HF, Watson P, Mecklin JP, Lynch HT (1999) New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology 116(6):1453–1456CrossRefPubMedGoogle Scholar
  10. 10.
    Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Koshiji M, Bhaijee F, Huebner T, Hruban RH, Wood LD, Cuka N, Pardoll DM, Papadopoulos N, Kinzler KW, Zhou S, Cornish TC, Taube JM, Anders RA, Eshleman JR, Vogelstein B, Diaz LA Jr (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372 (26):2509–2520. doi: 10.1056/NEJMoa1500596 CrossRefPubMedPubMedCentralGoogle Scholar
  11. 11.
    John AM, Schwartz RA (2016) Muir-Torre syndrome (MTS): an update and approach to diagnosis and management. J Am Acad Dermatol 74(3):558–566. doi: 10.1016/j.jaad.2015.09.074 CrossRefPubMedGoogle Scholar
  12. 12.
    Haraldsdottir S, Hampel H, Wei L, Wu C, Frankel W, Bekaii-Saab T, de la Chapelle A, Goldberg RM (2014) Prostate cancer incidence in males with Lynch syndrome. Genet Med 16(7):553–557. doi: 10.1038/gim.2013.193 CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2017

Authors and Affiliations

  • Jesse P. Wright
    • 1
  • Kathleen W. Montgomery
    • 2
  • Joshua Tierney
    • 3
  • Jill Gilbert
    • 4
  • Carmen C. Solórzano
    • 1
  • Kamran Idrees
    • 1
  1. 1.Division of Surgical Oncology, Department of SurgeryVanderbilt University Medical CenterNashvilleUSA
  2. 2.Department of PathologyVanderbilt University Medical CenterNashvilleUSA
  3. 3.Department of SurgeryUniversity of LouisvilleLouisvilleUSA
  4. 4.Division of Medical Oncology, Department of MedicineVanderbilt University Medical CenterNashvilleUSA

Personalised recommendations