Metastatic Prostatic Adenocarcinoma in Patient With Muir-Torre Syndrome Misdiagnosed as Metastatic Sebaceous Carcinoma: Case Report and Systematic Literature Review.
Adenocarcinoma
/ chemistry
Adult
Aged
Aged, 80 and over
Biomarkers, Tumor
/ analysis
Biopsy
Clinical Decision-Making
Diagnostic Errors
Female
Humans
Immunohistochemistry
Lymphatic Metastasis
Male
Middle Aged
Muir-Torre Syndrome
/ metabolism
Predictive Value of Tests
Prostatic Neoplasms
/ chemistry
Sebaceous Gland Neoplasms
/ chemistry
Journal
The American Journal of dermatopathology
ISSN: 1533-0311
Titre abrégé: Am J Dermatopathol
Pays: United States
ID NLM: 7911005
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
pubmed:
23
6
2020
medline:
6
7
2021
entrez:
23
6
2020
Statut:
ppublish
Résumé
Muir-Torre syndrome (MTS) is a rare autosomal dominant condition characterized by the presence of at least one cutaneous sebaceous tumor and one visceral malignancy, arising mostly from the gastrointestinal tract. We present the case of a 63-year-old man with several cutaneous and visceral neoplasias in the context of MTS, and a pelvic lymph node lesion diagnosed initially as metastatic sebaceous carcinoma, but later identified as metastasis from a newly diagnosed prostatic adenocarcinoma. Histological similarities between these 2 lesions are discussed. A systematic literature review was conducted evaluating all published cases of patients with MTS in which metastases were reported. Eighteen articles were included in the final synthesis, representing 20 patients with a total of 26 metastases. Seventeen patients (85%) exhibited metastases originating from MTS-related neoplasms, whereas only 2 patients (11%) exhibited metastases from concomitant malignancies. Of the 85% of patients with metastases from MTS-related malignancies, most originated from noncutaneous sources (78% from visceral neoplasms and 22% from sebaceous carcinomas). When stratifying according to metastases, 23 cases (88%) originated from MTS-related lesions, whereas only 3 (12%) originated from unrelated malignancies. Our findings thus demonstrate that most metastases found in MTS patients (88%) do indeed originate from MTS-related neoplasms. Nevertheless, it remains imperative that a broad differential diagnosis is maintained when assessing a novel lesion, to avoid misdiagnoses, as in the present case, with significant therapeutic and prognostic implications.
Identifiants
pubmed: 32568842
doi: 10.1097/DAD.0000000000001633
pii: 00000372-202009000-00013
doi:
Substances chimiques
Biomarkers, Tumor
0
Types de publication
Case Reports
Journal Article
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
700-705Références
Muir EG, Bell AJ, Barlow KA. Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg. 1967;54:191–195.
Torre D. Multiple sebaceous tumors. Arch Dermatol. 1968;98:549–551.
Carethers JM, Stoffel EM. Lynch syndrome and Lynch syndrome mimics: the growing complex landscape of hereditary colon cancer. World J Gastroenterol. 2015;21:9253–9261.
Navi D, Wadhera A, Fung MA, et al. Muir-Torre syndrome. Dermatol Online J. 2006;12:4.
Peltomaki P, Vasen HF. Mutations predisposing to hereditary nonpolyposis colorectal cancer: database and results of a collaborative study. The International Collaborative Group on Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology. 1997;113:1146–1158.
John AM, Schwartz RA. Muir-Torre syndrome (MTS): an update and approach to diagnosis and management. J Am Acad Dermatol. 2016;74:558–566.
Cho NY, Choi M, Kim BH, et al. BRAF and KRAS mutations in prostatic adenocarcinoma. Int J Cancer. 2006;119:1858–1862.
Cornejo KM, Hutchinson L, Deng A, et al. BRAF/KRAS gene sequencing of sebaceous neoplasms after mismatch repair protein analysis. Hum Pathol. 2014;45:1213–1220.
Schwartz RA, Torre DP. The Muir-Torre syndrome: a 25-year retrospect. J Am Acad Dermatol. 1995;33:90–104.
Buitrago W, Joseph AK. Sebaceous carcinoma: the great masquerader: emgerging concepts in diagnosis and treatment. Dermatol Ther. 2008;21:459–466.
Kyllo RL, Brady KL, Hurst EA. Sebaceous carcinoma: review of the literature. Dermatol Surg. 2015;41:1–15.
Narita H, Kanzaki T, Yokota M, et al. Muir-Torre syndrome. J Dermatol. 1992;19:105–108.
Demirci H, Nelson CC, Shields CL, et al. Eyelid sebaceous carcinoma associated with Muir-Torre syndrome in two cases. Ophthalmic Plast Reconstr Surg. 2007;23:77–79.
Honchel R, Halling KC, Schaid DJ, et al. Microsatellite instability in Muir-Torre syndrome. Cancer Res. 1994;54:1159–1163.
Chang TW, Weaver AL, Brewer JD. Sebaceous carcinoma in the clinical setting of non-Hodgkin lymphoma: the Mayo Clinic experience. Int J Dermatol. 2013;52:1210–1214.
Iacobelli J, Harvey NT, Wood BA. Sebaceous lesions of the skin. Pathology. 2017;49:688–697.
Cutaneous Adnexal Tumors. Philadelphia, PA: Wolters Kluwer Health; 2012.
Compton LA, Murphy GF, Lian CG. Diagnostic immunohistochemistry in cutaneous neoplasia: an update. Dermatopathology (Basel). 2015;2:15–42.
Harvey NT, Budgeon CA, Leecy T, et al. Interobserver variability in the diagnosis of circumscribed sebaceous neoplasms of the skin. Pathology. 2013;45:581–586.
Kazakov DV, Calonje E, Rutten A, et al. Cutaneous sebaceous neoplasms with a focal glandular pattern (seboapocrine lesions): a clinicopathological study of three cases. Am J Dermatopathol 2007;29:359–364.
Begnami MD, Quezado M, Pinto P, et al. Adenoid cystic/basal cell carcinoma of the prostate: review and update. Arch Pathol Lab Med. 2007;131:637–640.
Heinlein CA, Chang C. Androgen receptor in prostate cancer. Endocr Rev. 2004;25:276–308.
Fahmy A, Burgdorf WH, Schosser RH, et al. Muir-Torre syndrome: report of a case and reevaluation of the dermatopathologic features. Cancer. 1982;49:1898–1903.
Paner GP, Luthringer DJ, Amin MB. Best practice in diagnostic immunohistochemistry: prostate carcinoma and its mimics in needle core biopsies. Arch Pathol Lab Med. 2008;132:1388–1396.
Dominguez-Valentin M, Joost P, Therkildsen C, et al. Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. BMC Urol. 2016;16:15.
Guedes LB, Antonarakis ES, Schweizer MT, et al. MSH2 loss in primary prostate cancer. Clin Cancer Res. 2017;23:6863–6874.
Pritchard CC, Morrissey C, Kumar A, et al. Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer. Nat Commun. 2014;5:4988.
Abbott JJ, Hernandez-Rios P, Amirkhan RH, et al. Cystic sebaceous neoplasms in Muir-Torre syndrome. Arch Pathol Lab Med. 2003;127:614–617.
Bassetto F, Baraziol R, Sottosanti MV, et al. Biological behavior of the sebaceous carcinoma of the head. Dermatol Surg. 2004;30:472–476.
Baumgartner E, Ullman D, Jones JA, et al. Postradiation histiocytic sarcoma in the setting of muir-torre syndrome. Case Rep Pathol. 2018;2018:5947870.
Becker-Schiebe M, Hannig H, Hoffmann W, et al. Muir-Torre syndrome—an uncommon localization of sebaceous carcinomas following irradiation. Acta Oncol. 2012;51:265–268.
Davis DA, Cohen PR. Genitourinary tumors in men with the Muir-Torre syndrome. J Am Acad Dermatol. 1995;33:909–912.
Hadravsky L, Kazakov DV, Stehlik J, et al. Aggressive extraocular sebaceous carcinoma of the scalp involving the brain in a patient with muir-torre syndrome. Am J Dermatopathol. 2016;38:618–622.
Ishiguro Y, Homma S, Yoshida T, et al. Usefulness of PET/CT for early detection of internal malignancies in patients with Muir-Torre syndrome: report of two cases. Surg Case Rep. 2017;3:71.
Kurtzman DJ, Fabiano AJ, Qiu J, et al. Muir-torre syndrome and central nervous system malignancy: highlighting an uncommon association. Dermatol Surg. 2015;41:856–859.
Nair N, Curtin JP, Mittal K, et al. Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. J Clin Oncol. 2012;30:e5–e6.
Pancholi A, Collins D, Lindley R, et al. Muir-Torre syndrome: a case report and screening recommendations. Ann R Coll Surg Engl. 2008;90:W9–W10.
Paraf F, Sasseville D, Watters AK, et al. Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome. Hum Pathol. 1995;26:422–427.
Smith J, Crowe K, McGaughran J, et al. Sebaceous adenoma arising within an ovarian mature cystic teratoma in Muir-Torre syndrome. Ann Diagn Pathol. 2012;16:485–488.
Southey MC, Young MA, Whitty J, et al. Molecular pathologic analysis enhances the diagnosis and management of Muir-Torre syndrome and gives insight into its underlying molecular pathogenesis. Am J Surg Pathol. 2001;25:936–941.
Spraul CW, Lang GE, Grossniklaus HE, et al. Metastatic adenocarcinoma to the retina in a patient with Muir-Torre syndrome. Am J Ophthalmol. 1995;120:248–250.
Tailor IK, Cook J, Reilly JT, et al. Acute myeloid leukaemia associated with Muir-Torre variant of hereditary non-polyposis colon cancer (HNPCC): implications for inherited and acquired mutations in DNA mismatch repair genes. Br J Haematol. 2012;156:289–291.
Vernez M, Hutter P, Monnerat C, et al. A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene. Fam Cancer. 2007;6:141–145.
Warschaw KE, Eble JN, Hood AF, et al. The Muir-Torre syndrome in a black patient with AIDS: histopathology and molecular genetic studies. J Cutan Pathol. 1997;24:511–518.
Yozu M, Symmans P, Dray M, et al. Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field. Virchows Archiv. 2013;462:355–360.