RT Journal Article
SR Electronic
T1 Sebaceous tumours: more than skin deep
JF Gut
JO Gut
FD BMJ Publishing Group Ltd and British Society of Gastroenterology
SP 1957
OP 1957
DO 10.1136/gutjnl-2017-315472
VO 67
IS 11
A1 Finja Jockenhöfer
A1 Tobias T Schimming
A1 Jörg Schaller
A1 Jürgen Moege
A1 Elisabeth Livingstone
A1 Katrin A Salva
A1 Lisa Zimmer
A1 Dirk Schadendorf
A1 Alexander Rösch
YR 2018
UL http://gut.bmj.com/content/67/11/1957.abstract
AB Clinical presentation A 77-year-old man presented to our skin cancer centre with various cutaneous tumours occurring in 2006–2017. Histopathology showed a ‘hidradenocarcinoma’ on the left upper back (2006) and a sebaceous adenoma (figure 1) on the left shoulder (2011). In 2017, he developed a sebaceous carcinoma on the middle upper back, which manifested as a slowly enlarging, asymptomatic nodule. Medical history was significant for curative resection of colorectal cancer in 1988.Figure 1 Clinical appearance of the sebaceous adenoma on the patient’s left shoulder in 2011.The most recent lesion was subjected to extensive immunohistochemical assessment. The neoplastic cells were positive for cytokeratin 5/6, cytokeratin 7, cluster of differentiation antigen 10, adipophilin, androgen receptor, epithelial membrane antigen, KI67 antigen, MLH1 and PMS2, but stained negative for gross cystic disease fluid protein 15, prostate-specific antigen, carbohydrate antigen 19/9, CDX2 protein, hepatocyte-specific antigen, carcinoembryonic antigen, cluster of differentiation antigen 117 and cytokeratin 19. Given the variety of histological manifestations of the patient’s skin neoplasms, further studies were performed. They revealed positive nuclear expression signals for MLH1, MSH6 and PMS2, whereas MSH2 expression was absent in almost all tumour cells (figure 2). Positron emission tomography (PET)/CT and colonoscopy did not detect any pathological findings. However, molecular genetic analysis of peripheral blood showed a heterozygous deletion of exon 7 of the MSH2 gene. Subsequently, several family members tested positive for MSH2 mutations and underwent genetic counselling.Figure 2 (A–D) Histopathological images of the patient’s most recent lesion (diaminobenzidine, original magnification, ×100). The tumour cells demonstrated strong nuclear positivity for MLH1 (A) and PMS2 (B), but were essentially negative for MSH6 (C) and MSH2 (D).What is your diagnosis?Diagnosis: Muir-Torre syndrome (MTS).