Muir-Torre Syndrome (MTS)

Muir-Torre Syndrome (MTS) is a hereditary (autosomal-dominant) cancer syndrome where people develop oil-gland (sebaceous) skin tumors and have a higher chance of getting internal cancers, especially colon and uterine (endometrial) cancers. MTS is considered a skin-focused variant of Lynch syndrome (also called hereditary non-polyposis colorectal cancer, HNPCC). It usually comes from a faulty DNA mismatch-repair (MMR) gene (most often MSH2 or MLH1, with MSH6, PMS2, or EPCAM deletions less often). Faulty repair causes microsatellite instability (MSI-H/dMMR) in tumors. StatPearlsJNCCNPMC

Think of your DNA as a text that keeps getting copied. The MMR system is the spell-checker. In MTS, the spell-checker is broken. Over years, these “typos” build up, letting certain cells become tumors. On the skin, this often shows up as sebaceous adenomas/epitheliomas or sebaceous carcinomas (oily, yellowish, or pink bumps). Inside the body, people are more likely to develop colon cancer and sometimes cancers of the uterus/ovary, stomach/duodenum, small bowel, urinary tract, and others. Cancer.govWiley Online Library

Muir–Torre syndrome is a hereditary cancer condition. It is considered a special form (a “phenotypic variant”) of Lynch syndrome. People with MTS have a fault in DNA repair genes. Because their cells cannot fix certain DNA mistakes well, they are more likely to develop:

• Sebaceous skin tumors (growths from oil glands in the skin) such as sebaceous adenoma, sebaceoma, and sebaceous carcinoma, and sometimes keratoacanthomas that show sebaceous features, and

• One or more internal cancers seen in Lynch syndrome (most often colon or endometrial cancer, but other organs can be affected). NCBI+1

The key idea is simple: a broken DNA-repair system → more DNA errors → higher chance of certain tumors of the skin and inside the body. NCBI

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Why MTS happens

Your body uses “mismatch repair (MMR)” proteins to correct spelling mistakes that occur naturally when cells copy DNA. The main MMR genes are MLH1, MSH2, MSH6, and PMS2. Some families also have deletions in EPCAM, which switches off nearby MSH2. When one of these is broken in the germline (inherited), extra DNA errors pile up (often seen as microsatellite instability, MSI), and tumors can arise. In MTS, the same MMR defect that raises internal-cancer risk also predisposes skin oil-gland tumors. NCBI

Most people with the “classic” MTS pattern carry a pathogenic variant in MSH2; MLH1 and MSH6 are less common; PMS2 is rarer. Some reports also describe unusual, MTS-like cases connected to other pathways, but the MMR pathway is the central story. DermNet®NCBI

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What counts as MTS

Doctors use a clinical definition: at least one sebaceous neoplasm and at least one Lynch-spectrum internal malignancy (at any time in life), and no other obvious cause like long-term immune-suppression explaining the skin tumor pattern. Because sebaceous tumors can also appear without a germline mutation (so-called “phenocopies”), tumor immunohistochemistry and germline testing are used to confirm true MTS. NCBI

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Types

These aren’t “official” names set in stone, but they help you understand patterns doctors see.

1) By genetic cause

• MSH2-related MTS (most common; often many extracolonic cancers; frequently MSI-high sebaceous tumors). NCBI

• MLH1-related MTS (less common). NCBI

• MSH6-related MTS (rare in MTS; sometimes later-onset internal cancers). NCBI

• PMS2-related MTS (uncommon overall in the MTS pattern). NCBI

• EPCAM-deletion–related MTS (deletes EPCAM → epigenetically silences MSH2 nearby). NCBI

2) By inheritance pattern

• Autosomal dominant (classic): one faulty gene copy from a parent → 50% chance for each child. This is the usual pattern for MTS as a Lynch variant. JAX

• Rare non-classic/MTS-like situations: e.g., cases reported with MUTYH (base-excision repair) or immunosuppression-associated sebaceous tumors that mimic MTS; these need careful genetic workup because management differs if there is no germline MMR defect. DermNet®NCBI

3) By first presentation

• Cutaneous-first: sebaceous lesion leads to the diagnosis; internal cancer found by screening. NCBI

• Visceral-first: a Lynch-type internal cancer occurs first; sebaceous tumors appear later. NCBI

4) By origin of the MMR problem

• Germline MMR mutation (true MTS; high, lifelong internal-cancer risk). NCBI

• Somatic-only MMR loss in the skin tumor (a look-alike): IHC/MSI abnormal only in the skin tumor, but germline testing negative → internal-cancer risk is not the same as Lynch/MTS. NCBI

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Causes

In everyday language, “cause” means what sets the process in motion. For MTS, the primary causes are inherited mutations in MMR genes. A few other factors can reveal, accelerate, or mimic the syndrome. Below are 20 items grouped for clarity.

A) Direct genetic causes (the main drivers)

1. MSH2 germline mutation – the classic and most common MTS driver. DermNet®NCBI

2. MLH1 germline mutation – less common in the MTS pattern but well-documented. NCBI

3. MSH6 germline mutation – rare in MTS; typically later cancer onset than MLH1/MSH2. NCBI

4. PMS2 germline mutation – uncommon in MTS; overall lower penetrance for many Lynch cancers. NCBI

5. EPCAM 3′ deletion – silences adjacent MSH2 in the colon/skin, functionally acting like MSH2 loss. NCBI

B) Tumor-level “second hits” and variants of the repair problem

6. Somatic second hit in the same MMR gene (loss of the remaining good copy) in a skin or colon cell → tumor forms. NCBI

7. MSI-high state (consequence of MMR loss) – not a cause by itself, but the mechanism that accelerates tumor formation in MTS. NCBI

8. Somatic-only MMR loss in a sebaceous tumor without a germline defect – mimics MTS clinically but is not inherited MTS. NCBI

C) Rare/atypical and MTS-like pathways

9. MUTYH-related (base-excision repair) cases – rare, MTS-like presentations have been reported; careful confirmation is needed as surveillance differs. NCBI

10. Other DNA repair modifiers (e.g., less-common MMR partners like MSH3/PMS1 in Lynch biology) – usually not core MTS drivers but part of the broader mismatch-repair ecosystem. DermNet®

D) Factors that can unmask or accelerate tumor development in someone who already carries an MMR defect

11. Ultraviolet (UV) exposure – sebaceous tumors are skin tumors; UV doesn’t “cause” MTS, but it can promote visible skin lesions. DermNet®

12. Previous radiotherapy to an area – can promote skin tumor formation where MMR is already impaired. DermNet®

13. Long-term immunosuppression (e.g., tacrolimus, cyclosporine): can unmask latent MTS or generate MTS-like sebaceous tumors earlier or in unusual sites. DermNet®NCBI

14. Aging – more time → more replication errors; in MMR carriers, errors accumulate faster, revealing disease earlier than general population. NCBI

15. Family history and shared environment – not a cause on its own but a strong clue that the germline mutation runs in the family. NCBI

E) Clinical and molecular “modifiers”

16. Gene-specific risks – MSH2 carriers tend to have more extracolonic cancers (and MTS) than MSH6/PMS2 carriers. NCBI

17. Sex-specific risks – women with Lynch can also have endometrial/ovarian risks; MTS keeps the same Lynch spectrum. NCBI

18. Lifestyle factors (obesity, smoking, diabetes, high cholesterol) can raise colorectal-cancer risk in Lynch and therefore affect overall risk in an MTS family. NCBI

19. Epigenetic events (e.g., promoter methylation in tumors) – can act as the second hit or create phenocopies; details vary by tissue. NCBI

20. EPCAM-related epigenetic silencing of MSH2 – a special case worth repeating because it’s a frequent practical finding when testing families. NCBI

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Symptoms and signs

Not everyone has all of these. Some people first notice a skin lesion; others first have a Lynch-type internal cancer. Always think of both skin and internal clues.

Skin clues (often the first tip-off):

1. New, slow-growing, yellowish papule or nodule on the face, eyelid, or anywhere there are oil glands; sometimes ulcerated or crusted (suggests sebaceous adenoma/epithelioma). DermNet®

2. Multiple sebaceous tumors over time (several lesions in different places). DermNet®

3. Sebaceous carcinoma (can look like a stubborn eyelid “chalazion” or a firm pink/yellow nodule elsewhere). DermNet®

4. Keratoacanthoma-like lesions that grow fast and do not fully resolve. DermNet®

5. Sebaceous tumors appearing below the neck (less common in sporadic cases; raises suspicion for MTS). NCBI

6. Multiple lesions or recurrences after removals.

Bowel/abdominal clues (Lynch-spectrum internal cancers):

1. Change in bowel habits, persistent diarrhea/constipation, or narrower stools.
2. Rectal/intestinal bleeding or dark stools.
3. Unexplained abdominal pain, bloating, or weight loss. NCBI

Urogenital and gynecologic clues:

1. Blood in the urine, flank pain, or frequent urination (urothelial/renal-pelvis/ureter cancers). NCBI
2. Abnormal uterine bleeding, especially postmenopausal bleeding (endometrial cancer). NCBI
3. Pelvic pain/bloating (ovarian cancer). NCBI

Upper GI and other organs:

1. Ongoing indigestion, early fullness, or stomach pain (possible gastric/small-bowel cancer). NCBI
2. Jaundice or painless weight loss (possible pancreatic/biliary involvement). NCBI

Neurologic clues:

1. Persistent headaches, neurological changes, or seizures (rare, but certain brain tumors can occur in Lynch families). NCBI

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Diagnostic tests

Doctors usually start with the skin tumor (biopsy + special stains) and your personal/family history. If the skin tumor shows DNA-repair loss, they confirm with germline genetic testing. At the same time, they screen for internal cancers typical of Lynch syndrome. No single test stands alone; they fit together like puzzle pieces.

A) Physical examination (what the clinician sees/does)

1. Full-body skin exam – careful look for sebaceous adenoma/epithelioma/carcinoma and keratoacanthomas; note number, size, site (particularly below the neck). This can be the first step to suspect MTS. NCBI

2. Targeted eyelid/periocular exam – because periocular sebaceous carcinoma is a classic site. DermNet®

3. Abdominal exam and digital rectal exam (DRE) – to look for masses, tenderness; DRE can detect rectal bleeding or lesions.

4. Lymph-node exam – check regional nodes for spread from a sebaceous carcinoma.

5. Gynecologic pelvic exam in women – part of Lynch-related care (paired with appropriate imaging/biopsy when indicated). NCBI

B) “Manual” or bedside tests and procedures (simple, office-based)

6. Dermatoscopy of suspicious skin lesions – helps choose biopsy sites and recognize sebaceous features (yellow globules, arborizing vessels). DermNet®

7. Fecal occult blood test (FOBT)/FIT – simple stool tests that can hint at colorectal bleeding; not definitive but useful to triage. NCBI

8. Urine dipstick/cytology – screens for hematuria or abnormal cells in urothelial cancers; often used selectively by risk. NCBI

9. Digital photography / mole-mapping for lesions – helps track multiple sebaceous tumors over time.

10. Endoscopic “bedside” decisions – while colonoscopy is not “manual,” clinicians often triage early colonoscopy when MTS is suspected because it changes outcomes. NCBIDermNet®

C) Laboratory & pathological tests (the heart of confirming MTS)

11. Skin lesion biopsy with routine pathology – confirms sebaceous adenoma/sebaceoma/sebaceous carcinoma and may show features that point to MTS. NCBI

12. Mismatch-repair immunohistochemistry (IHC) on the skin tumor – checks for loss of MLH1/MSH2/MSH6/PMS2 proteins. Loss of a protein suggests MMR deficiency and points to which gene to test in the blood, but IHC alone is not diagnostic (it can be somatic only). NCBI

13. Microsatellite instability (MSI) testing on the tumor – detects the downstream effect of MMR loss (MSI-high). In skin, this supports MTS; in colon/endometrium, it’s standard Lynch workup. NCBI

14. Germline genetic testing (blood/saliva) for MLH1, MSH2, MSH6, PMS2, and EPCAM – this is the confirmation of inherited MTS. Family testing flows from here. NCBI

15. Reflex testing for EPCAM deletions when the pattern suggests MSH2 loss but sequencing is negative – to catch epigenetic silencing via EPCAM. NCBI

16. Tumor sequencing (NGS panels) – clarifies whether the tumor’s MMR loss is somatic only or consistent with a germline defect, and finds the second hit. NCBI

17. CBC, liver and kidney panels, CEA – supportive labs to look for anemia from bleeding, organ involvement, and to follow some cancers (e.g., CEA in colon). NCBI

D) Electrodiagnostic tests (when and why)

There is no electrodiagnostic test that diagnoses MTS itself. These are occasionally used to evaluate complications or associated tumors.

18. ECG – baseline before certain chemotherapies; part of general cancer care readiness.

19. EEG – rarely, if brain tumors or seizures are suspected in a Lynch context, EEG may be used during neurologic workup. NCBI

20. Nerve-conduction studies/EMG – rarely, if neuropathy appears during/after treatment; not for MTS diagnosis but for managing side-effects.

E) Imaging and endoscopic tests (finding and staging cancers)

Imaging/endoscopy plans are risk- and age-based and follow Lynch syndrome surveillance principles, adapted for the person’s gene and family history.

• Colonoscopy (diagnostic and preventive): the cornerstone; starts young and repeats often compared with the general population. DermNet®

• Upper endoscopy (EGD) for selected higher-risk individuals/families. NCBI

• Pelvic ultrasound / transvaginal ultrasound, with endometrial sampling when indicated (women). NCBI

• CT/MRI of abdomen and pelvis when symptoms or tumor-specific staging requires it. NCBI

• Urinary tract evaluation when family history or symptoms suggest risk (e.g., urine cytology, imaging of kidneys/ureters; cystoscopy in selected cases). NCBI

• Dermoscopic imaging / clinical photography for skin-lesion follow-up (helps find new sebaceous lesions early). DermNet®

Non-pharmacological (no-drug) treatments & supports

(Each item: what it is, purpose, how it helps/mechanism)

1. Regular total-body skin exams (dermatology)
   Purpose: Find sebaceous tumors early; remove cancers before they spread.
   Mechanism: Visual and dermoscopic detection → early excision/Mohs lowers recurrence. PMCWiley Online Library

2. Mohs micrographic surgery for sebaceous carcinoma
   Purpose: Remove skin cancer with complete margin control, sparing normal skin.
   Mechanism: Layer-by-layer excision with microscope checks until margins are clean, which reduces local and distant recurrences. AetnaPubMed

3. Wide local excision (when Mohs not available/appropriate)
   Purpose: Curative removal.
   Mechanism: Surgical margins around tumor; pathology confirms clearance. Wiley Online Library

4. Conjunctival “map” biopsies in eyelid sebaceous carcinoma
   Purpose: Check microscopic spread on eye surface (pagetoid spread).
   Mechanism: Systematic small biopsies guide complete treatment planning. NCBIPMC

5. Sentinel lymph node consideration (selected eyelid cases)
   Purpose: Stage nodal spread when tumors are large/recurrent.
   Mechanism: Tracer locates first draining node for biopsy. Frontiers

6. Colonoscopy surveillance
   Purpose: Prevent colon cancer by removing precancerous polyps; catch early cancer.
   Mechanism: Every 1–2 years starting ~age 20–25 (earlier/later by gene), or 1–3 years for some MSH6/PMS2 carriers per evolving guidance. NCBIPMCGH Advances

7. Upper GI endoscopy (EGD) when risk factors present
   Purpose: Detect stomach/duodenal lesions (more so if family history/Asian ancestry).
   Mechanism: Visualize and biopsy lesions; test/treat H. pylori. NCBI

8. Urinary tract surveillance (selected families)
   Purpose: Pick up urothelial cancers early.
   Mechanism: Annual urinalysis ± urine cytology beginning ~age 30–35 in those with family history. NCBI

9. Gynecologic counseling & surveillance
   Purpose: Detect endometrial/ovarian cancer early; discuss risk-reducing surgery.
   Mechanism: Symptom education, individualized surveillance; strongest risk reduction from hysterectomy/BSO after childbearing (see Surgery section). NCBI

10. Genetic counseling & cascade testing for family
    Purpose: Identify relatives who carry the mutation; set up tailored screening.
    Mechanism: Germline testing for MLH1/MSH2/MSH6/PMS2/EPCAM and then gene-specific surveillance. PMC

11. Personal skin self-exams with photography
    Purpose: Notice new or changing bumps between doctor visits.
    Mechanism: Baseline photos help track growth/change and prompt earlier care. (General dermatologic practice)

12. Sun protection
    Purpose: Lower UV-driven skin tumors.
    Mechanism: Sunscreen, hats, shade; UV causes DNA damage; protection reduces actinic keratoses and nonmelanoma skin cancer risk. (General dermatology consensus; aligns with WCRF “sun safe” message) World Cancer Research Fund

13. Stop smoking
    Purpose: Reduce risk of many Lynch-related cancers and improve healing.
    Mechanism: Removing carcinogens lowers mutation burden. (Global cancer prevention guidance) World Cancer Research Fund

14. Limit alcohol
    Purpose: Reduce cancer risk overall, including colorectal.
    Mechanism: Less acetaldehyde exposure and systemic inflammation. World Cancer Research Fund

15. Healthy weight & regular physical activity
    Purpose: Lower overall cancer risk and improve outcomes.
    Mechanism: Better insulin signaling, lower inflammation; aligns with WCRF/AICR recommendations. PMC

16. High-fiber, plant-forward diet
    Purpose: Support colon health; reduce CRC risk.
    Mechanism: Fiber dilutes carcinogens, alters bile acids, and feeds gut microbiota. (WCRF colorectal guidance) World Cancer Research Fund

17. Resistant starch (food strategy)
    Purpose: In Lynch syndrome, reduced non-colorectal cancers in long-term follow-up.
    Mechanism: Fermentation to short-chain fatty acids (e.g., butyrate) with anti-neoplastic effects; 30 g/day used in CAPP2. PMCPubMed

18. Nicotinamide (vitamin B3 amide) as skin-cancer chemoprevention adjunct
    Purpose: In high-risk skin-cancer patients, 500 mg twice daily lowered new non-melanoma skin cancers.
    Mechanism: Enhances DNA repair and reduces UV-induced immunosuppression. (Not MTS-specific but commonly used in practice.) New England Journal of Medicine+1

19. Psycho-oncology / peer support
    Purpose: Reduce stress, improve adherence to lifelong screening.
    Mechanism: Counseling and support groups improve coping and follow-through. (General survivorship guidance)

20. Vaccinations (HPV, HBV; routine vaccines)
    Purpose: Reduce virus-related cancers/infections that complicate care.
    Mechanism: Immune protection; recommended per standard adult schedules. (General oncology prevention guidance)

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Drug treatments

Important: Doses below are typical reference ranges from labels/guidelines; individual plans vary. Always personalize with the treating team.

1. Pembrolizumab (PD-1 inhibitor, immunotherapy)
   Dose/time: 200 mg IV every 3 weeks or 400 mg every 6 weeks.
   Purpose: For unresectable/metastatic MSI-H/dMMR cancers (tissue-agnostic approval) and first-line in MSI-H/dMMR colorectal cancer.
   Mechanism: Releases immune brakes so T-cells attack MSI-H tumors.
   Key side effects: Fatigue, rash, diarrhea; immune-related inflammation (thyroid, colon, liver, lung). U.S. Food and Drug Administration+1PMC

2. Nivolumab (PD-1 inhibitor)
   Dose/time: 240 mg IV q2 weeks or 480 mg q4 weeks; sometimes combined with ipilimumab.
   Purpose: MSI-H/dMMR metastatic CRC (and other dMMR tumors per practice).
   Mechanism/side effects: Similar to pembrolizumab (immune-related AEs). (Label/guideline practice consistent with PD-1 inhibitors; use per treating oncologist)

3. Nivolumab + Ipilimumab (PD-1 + CTLA-4)
   Dose/time: Protocol-specific (e.g., nivolumab 240–480 mg plus low-dose ipilimumab).
   Purpose: Selected refractory/metastatic MSI-H tumors to deepen responses.
   Mechanism: Dual checkpoint blockade; higher immune toxicity risk (colitis, hepatitis, endocrinopathies). (Oncology guideline practice)

4. Dostarlimab (PD-1 inhibitor)
   Dose/time (endometrial dMMR): 500 mg IV q3 weeks × 4, then 1000 mg q6 weeks.
   Purpose: dMMR endometrial cancer—common in Lynch/MTS.
   Mechanism/side effects: PD-1 blockade; immune-related AEs. (FDA/label practice)

5. Capecitabine (oral 5-FU prodrug; chemotherapy)
   Dose/time: 1000–1250 mg/m² twice daily for 14 days every 21 days, alone or with oxaliplatin.
   Purpose: Colorectal cancer regimens when immunotherapy is not used/doesn’t apply.
   Mechanism: Antimetabolite that kills rapidly dividing cells.
   Side effects: Hand–foot syndrome, diarrhea, mucositis, low blood counts. FDA Access DataPMC

6. FOLFOX (infusional 5-FU + leucovorin + oxaliplatin)
   Dose/time: Common schedule every 2 weeks (e.g., oxaliplatin 85 mg/m² day 1 + LV + 46-hr 5-FU infusion), cycles per protocol.
   Purpose: Standard CRC chemotherapy (adjuvant or metastatic).
   Mechanism: DNA crosslinking (oxaliplatin) + antimetabolite (5-FU).
   Side effects: Neuropathy, cytopenias, mucositis, nausea. Drugs.comPMC

7. Topical 5-fluorouracil (5-FU) 5% cream
   Use: Field therapy for actinic keratoses/keratoacanthoma-like lesions; adjunct for high actinic damage in MTS patients.
   Mechanism: Blocks DNA synthesis in precancer cells.
   Side effects: Redness, irritation. PMC

8. Topical Imiquimod 5% cream
   Use: Immune-stimulating cream for some superficial skin cancers/AKs.
   Mechanism: TLR-7 agonist; boosts local immune response.
   Side effects: Local inflammation. PMC

9. Isotretinoin (oral retinoid)
   Dose/time: Often 0.2–0.8 mg/kg/day (e.g., 20 mg daily in low-dose reports), individualized with strict pregnancy prevention (iPLEDGE).
   Purpose: Chemoprevention/“suppression” of new sebaceous tumors in selected patients with frequent lesions.
   Mechanism: Retinoid signaling reduces sebaceous proliferation and keratinization.
   Side effects: Dryness, elevated lipids, liver enzyme changes; teratogenic—requires strict contraception. MedscapeeScholarship

10. Acitretin (oral retinoid)
    Dose/time: Low–moderate daily dosing (commonly 10–25 mg/day; weight-based in reports), tailored to tolerance.
    Purpose: Another retinoid option for reducing sebaceous tumor burden in MTS where lesions are frequent.
    Mechanism/side effects: Similar to isotretinoin; teratogenic; long tissue half-life—pregnancy must be avoided for years after stopping. PMCjaadcasereports.org

Note on “stem-cell/regenerative drugs”: there are no stem-cell medicines proven or recommended for MTS. The main systemic breakthroughs are immune checkpoint inhibitors for MSI-H/dMMR cancers. U.S. Food and Drug Administration

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Dietary & supportive supplements

Supplements are not a substitute for colonoscopy, skin checks, or approved cancer treatments. Evidence ranges from strong to limited; I’ll note the typical dose used in studies/practice and the rationale.

1. Nicotinamide (Vitamin B3 amide): 500 mg twice daily; lowered new non-melanoma skin cancers in high-risk patients (helpful for people with many actinic lesions). New England Journal of Medicine

2. Resistant starch: ≈30 g/day from foods/supplements; in Lynch syndrome lowered non-colorectal cancers in long-term follow-up. PMC

3. Dietary fiber: Aim 25–35 g/day from whole grains, beans, fruit, veg; linked with lower CRC risk. World Cancer Research Fund

4. Calcium (with food): 1000–1200 mg/day total intake; mixed evidence for polyp reduction; avoid excess. (General CRC nutrition guidance) World Cancer Research Fund

5. Vitamin D: 1000–2000 IU/day if deficient; supports bone/immune function; CRC evidence mixed—check blood levels. (General guidance)

6. Omega-3 (EPA/DHA): ~1 g/day; anti-inflammatory; cancer prevention data mixed—use mainly for cardiometabolic health.

7. Curcumin (turmeric extract): 500–1000 mg/day; anti-inflammatory/epigenetic effects in early studies; evidence limited for cancer prevention.

8. Green tea extract (EGCG): 300–800 mg/day with caution (rare liver toxicity); antioxidant; limited prevention data.

9. Probiotics/fermented foods: No standard dose; support gut microbiota; theoretical benefits for colon health.

10. Selenium: 100–200 mcg/day if diet is low; avoid high doses.

11. Magnesium: 200–400 mg/day if low intake; observational CRC links exist; avoid excess.

12. Folate: ~400 mcg/day from diet or standard multivitamin; avoid high-dose supplements unless prescribed.

13. Polyphenol-rich foods (berries, cocoa, olives): Food-based approach preferred; safety profile favorable.

14. Cruciferous vegetables (broccoli, cabbage): Natural isothiocyanates; food first.

15. Standard multivitamin (low-dose): General coverage if diet is limited; not for cancer prevention per se.
    (WCRF/AICR advises not to rely on supplements to prevent cancer—focus on diet/activity.) World Cancer Research Fund

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Regenerative / stem-cell” drugs

1. Pembrolizumab – real, proven for MSI-H/dMMR cancers. (See above.) U.S. Food and Drug Administration

2. Nivolumab – real, MSI-H/dMMR use.

3. Nivolumab + Ipilimumab – real in selected settings.

4. Dostarlimab – real, especially for dMMR endometrial cancer common in Lynch/MTS.

5. Atezolizumab/Cemiplimab – immune checkpoint drugs used for some skin/internal cancers, but not specific to MTS; use is tumor-by-tumor.

6. Stem-cell therapies – not used for MTS; no evidence.
   Bottom line: “hard immunity” in MTS means checkpoint inhibitors targeting MSI-H/dMMR biology, not stem cells. PMC

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Surgeries

1. Mohs micrographic surgery for sebaceous carcinoma and other high-risk skin cancers
   Why: Highest cure with tissue-sparing margins and low recurrence on cosmetically sensitive skin. PubMed

2. Wide local excision (if Mohs not used)
   Why: Remove tumor with an adequate margin; standard surgical oncology option. Wiley Online Library

3. Eyelid/periocular procedures: Map biopsies, eyelid-sparing excision; rarely, orbital exenteration for extensive disease
   Why: Fully clear pagetoid spread and preserve vision when possible; exenteration only for advanced cases. NCBI

4. Colectomy (segmental or subtotal) when colon cancer is diagnosed or advanced precancer cannot be removed
   Why: Curative treatment; sometimes subtotal colectomy in younger patients with Lynch to reduce future risk. NCBI

5. Risk-reducing hysterectomy ± bilateral salpingo-oophorectomy (BSO) after childbearing in women with Lynch/MTS
   Why: Strongest proven way to prevent endometrial and ovarian cancers in high-risk carriers. New England Journal of MedicineNCBI

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Practical prevention habits

1. Know your gene and share it (family cascade testing). PMC

2. Stick to colonoscopy schedule (every 1–2 years unless your team specifies differently). NCBI

3. Annual skin checks + sun protection.

4. Discuss daily aspirin (e.g., 600 mg/day in CAPP2) with your doctor—benefit vs bleeding risk. PMCAmerican College of Gastroenterology

5. Consider resistant starch as a food strategy. PMC

6. Maintain healthy weight & exercise regularly. PMC

7. Don’t smoke; limit alcohol. World Cancer Research Fund

8. Balanced, fiber-rich diet, low in processed/red meats. World Cancer Research Fund

9. Complete vaccines (HPV, HBV; routine vaccines).

10. Plan risk-reducing gynecologic surgery after childbearing, if appropriate. NCBI

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When should you see a doctor urgently?

• New or rapidly growing yellow/pink skin bump, especially on face/eyelids; any non-healing or bleeding lesion. Cancer.gov

• Rectal bleeding, change in bowel habits, unexplained iron-deficiency anemia, persistent abdominal pain/weight loss. NCBI

• Abnormal uterine bleeding (any postmenopausal bleeding; new heavy or irregular bleeding). PMC

• Pelvic/abdominal bloating, early fullness, urinary urgency (possible ovarian cancer). NCBI

• Blood in urine or repeated urinary symptoms, especially with family history of urothelial cancer. NCBI

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Simple “eat more / eat less” tips

• Eat more: whole grains, beans/lentils, fruits, vegetables (especially cruciferous like broccoli), nuts, seeds. World Cancer Research Fund

• Choose more: foods naturally high in resistant starch (cooled potatoes/rice, green bananas, oats) or use a safe RS supplement if your team agrees. PMC

• Drink more: water and unsweetened drinks. World Cancer Research Fund

• Consider: nicotinamide 500 mg twice daily for frequent actinic damage (ask your doctor). New England Journal of Medicine

• Limit: processed meat and excess red meat. World Cancer Research Fund

• Limit: alcohol (or avoid). World Cancer Research Fund

• Cook smart: less charring/burning of meats.

• Keep weight steady: mind portions and added sugars. World Cancer Research Fund

• Be careful with supplements: food first; don’t megadose. World Cancer Research Fund

• Stay consistent: diet works best alongside screening and exercise. PMC

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FAQs

1) Is MTS the same as Lynch syndrome?
MTS is a skin-focused variant of Lynch. Same DNA repair genes; extra focus on sebaceous skin tumors. StatPearls

2) Which genes are most often involved?
MSH2 and MLH1 most common; MSH6/PMS2 less common; EPCAM deletions can silence MSH2. JNCCN

3) What skin tumors are typical?
Sebaceous adenomas/epitheliomas and sebaceous carcinoma, often yellowish; keratoacanthomas may occur. Cancer.gov

4) How is risk estimated when a sebaceous tumor is found?
Clinicians may use the Mayo MTS Risk Score and order MMR IHC/MSI and germline testing. Nature

5) What screening really saves lives?
Regular colonoscopy (1–2 yr) with polyp removal is key; dermatologic checks and timely surgery for skin cancers; genetics-guided gynecologic decisions. NCBI

6) Do immune therapies work?
Yes. PD-1 inhibitors like pembrolizumab and nivolumab are highly effective in many MSI-H/dMMR cancers. U.S. Food and Drug Administration

7) Is aspirin helpful?
In the CAPP2 trial, 600 mg daily for about 2 years reduced colorectal cancer risk in Lynch over long-term follow-up—only start with your doctor (bleeding risk). PMCAmerican College of Gastroenterology

8) Are retinoids (isotretinoin/acitretin) used?
Sometimes for people with frequent sebaceous tumors to reduce new lesions; careful monitoring and strict pregnancy precautions are required. MedscapePMC

9) Is there a role for “stem cell” treatments?
No—not for MTS. The proven systemic option is checkpoint immunotherapy for MSI-H/dMMR cancers. U.S. Food and Drug Administration

10) Should women consider preventive gynecologic surgery?
After childbearing, hysterectomy ± BSO is often advised to prevent endometrial/ovarian cancer in Lynch/MTS carriers. New England Journal of Medicine

11) Do TVUS or endometrial biopsies replace surgery?
No. They haven’t shown a mortality benefit; they’re options if surgery is deferred. NCBI

12) What if my tumor shows MLH1 loss?
Doctors may test MLH1 methylation/BRAF V600E to tell sporadic from hereditary cases before germline testing choices. NCBI

13) How often should skin be checked?
Typically yearly, more often if you’re getting new lesions. Self-checks monthly are useful.

14) Can diet make a difference?
Diet supports overall risk reduction—fiber-rich, plant-forward patterns and resistant starch show benefits; diet doesn’t replace screening. World Cancer Research FundPMC

15) What should my family do?
Genetic counseling and testing, then start surveillance earlier if they carry the variant. PMC

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: August 13, 2025.

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