Muir-Torre Syndrome: a Long Way to Diagnosis

Author(s) :

Andrada Turcas1,2, Bogdan Fetica3, Adrian Trifa4,5,6, Viorica Nagy2

1Oncology Department, University of Medicine and Pharmacy “Iuliu Hatieganu” Cluj-Napoca, Romania

2Radiotherapy Department, Oncology Institute “Prof. Dr. Ion Chiricuta” Cluj-Napoca, Romania

3Pathology Department, Oncology Institute “Prof. Dr. Ion Chiricuta” Cluj-Napoca, Romania

4Department of Genetics, “Victor Babeș” University of Medicine and Pharmacy, Timișoara, Romania

5Department of Genetics, Oncology Institute “Prof. Dr. Ion Chiricuta” Cluj-Napoca, Romania

6Oncohelp Hospital, Timișoara, Romania


Corresponding author: Andrada Turcas, Email:

Published: Volume III, Issue 1, 1 April 2023, 47 - 55 DOI: 10.53011/JMRO.2023.01.08

Open Access

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April 1, 2023 0 Comments


Muir-Torre syndrome, a subtype of Lynch syndrome, is a rare genetic disorder. We present the case of a female patient with an extended family and personal history diagnosed with numerous benign and malignant tumors of various histology, including some with sebaceous features, beginning at 41. The majority were cutaneous tumours, treated with complete resection, and which frequently recurred. Visceral cancers included endocervical adenocarcinoma, vulvar squamous-cell carcinoma and urothelial carcinoma, treated surgically, followed by systemic oncological treatments and external beam radiotherapy.

Following a 20-year evolution, extensive genetic blood testing revealed a pathogenic variant in the MSH2 gene, c.1861C>T (p.Arg621*), in the heterozygous   state. Given this unusual clinical presentation and molecular profile, the patient was ultimately diagnosed with Muir-Torre syndrome. The prognosis was poor, with an inoperable recurrence of the urothelial carcinoma and extensive lymph node metastasis of vulvar squamous cell carcinoma.

Figure 1. Family tree and cancer history: dark blue= cancer present; yellow= presented patient; blue= mutation identified by genetic testing; *= deceased; y= years-old; CC= carcinoma, Ca=cancer
Figure 2. Patient history and evolution; y=years; G1=Grade 1; EBRT=external beam radiotherapy; CC=carcinoma.
Figure 3. Genetic testing result- germline mutation in MSH2 gene identified
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