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  • Lynch Syndrome: Chairun Nur Prasetya

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    Lynch syndrome is an inherited condition that increases a person's risk of cancers of the digestive tract, gynecologic tract, and other organs. It accounts for about 3-5% of colorectal cancers. Clinical criteria like the Amsterdam criteria can be used to diagnose Lynch syndrome, but have low sensitivity and specificity. Better methods include tumor testing with immunohistochemistry (IHC) or microsatellite instability (MSI) testing, which have sensitivity of 83-85% and specificity of 77-90%. For those with Lynch syndrome, surveillance is recommended with frequent colonoscopies beginning in the 20s or 30s as well as endometrial sampling and transvaginal ultrasounds for women beginning in the 30s

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    Lynch syndrome is an inherited condition that increases a person's risk of cancers of the digestive tract, gynecologic tract, and other organs. It accounts for about 3-5% of colorectal cancers. Clinical criteria like the Amsterdam criteria can be used to diagnose Lynch syndrome, but have low sensitivity and specificity. Better methods include tumor testing with immunohistochemistry (IHC) or microsatellite instability (MSI) testing, which have sensitivity of 83-85% and specificity of 77-90%. For those with Lynch syndrome, surveillance is recommended with frequent colonoscopies beginning in the 20s or 30s as well as endometrial sampling and transvaginal ultrasounds for women beginning in the 30s

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    Lynch Syndrome: Chairun Nur Prasetya

    Uploaded by

    anon_528284638
    Lynch syndrome is an inherited condition that increases a person's risk of cancers of the digestive tract, gynecologic tract, and other organs. It accounts for about 3-5% of colorectal cancers. Clinical criteria like the Amsterdam criteria can be used to diagnose Lynch syndrome, but have low sensitivity and specificity. Better methods include tumor testing with immunohistochemistry (IHC) or microsatellite instability (MSI) testing, which have sensitivity of 83-85% and specificity of 77-90%. For those with Lynch syndrome, surveillance is recommended with frequent colonoscopies beginning in the 20s or 30s as well as endometrial sampling and transvaginal ultrasounds for women beginning in the 30s

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    of 16

    Lynch syndrome

    Chairun Nur
    Prasetya

    Ca Mamae 40 th

    Ca Colon
    Tranvers
    um 48
    th

    Ca Mamae Ca Mamae
    Tumor
    31 th
    20 th
    Ganas
    Otak 11th

    Ny. WH (46 yrs)

    Ca Mamae
    31 th (op.
    2x)

    Ca Usus
    48 th
    Ca Mamae 40 th

    Ca Usus
    46 th

    Ca Usus
    36 th

    Ca Usus Ca Usus
    60 th
    40 th

    Ca Usus
    40 th

    Tn Jaman (65 yrs)

    Ca
    Rectum
    40 th

    Ca
    Rectum
    40 th
    Tumor
    Ganas
    Otak 20 th

    American Cancer Society Inc. 2008, Cancer Statistic 2008

    Karsinogenesis
    70 % Sporadik Somatic Mutation
    20 30 % Familial
    10 % Inheridited
    3 5 % Lynch Syndrom

    Vogelstein et al N.Engl.J. Med. 1988; 319 : 525 32

    Mr. AH 42 yrs Lynch I

    Mr. PR 49 yrs Lynch II

    Mr. PR 49 yrs Lynch II

    Definition
    Lynch syndrome is an inheridited condition
    that gives a person a higher risk of cancers
    of the digestive tract, gynecologic tract, and
    other organ.

    Identification of lynch
    syndrome
    Clinical
    Prediction models
    Tumor testing
    Germline testing
    Universal testing

    Identification of lynch syndrome

    Al Sukhni, SCNA 2008; 88 : 819 49

    Al Sukhni, SCNA 2008; 88 : 819 49

    Clinical
    Criteria
    Diagnose
    Amsterdam I

    Sensitifit Spesifisit
    y
    y
    False
    Negative

    Amsterdam II 22 %
    Bhatesda
    82 %
    IHC Testing
    83 %
    MSI Testing
    85 %

    40 %
    (Tidak
    Spesifik)
    98 %
    77 %
    89 %
    90 %

    (1) Road TE, Colon and Rectal Surgery 2007,pg. 353 61


    (2) Al Sukhni, SCNA 2008; 88 : 819 49

    Lynch Syndrome Fenotipe


    Usia 40 50 tahun
    Kolon Proximal (60-80%)
    Sinkronous / metakronous
    Diferensiasi jelek mucoid limfosit
    Assosiated cancer extra colonic

    ( Endometrium 54% )
    DNA Diploid ( prognosa lebih baik )

    (1) Lindor NM, JAMA 2006; 296 : 1507 17


    (2) Lynch HT, Seminars in Surgical Oncology 2000;18 : 305 13

    Lynch Syndrome Surveillance


    Options
    Intervention

    Recommendation

    Colonoscopy

    Every 1-2 y beginning at age 20


    (MLH1), 25 (MSH2), or 30 (MSH6
    & PMS2)

    Endometrial
    sampling

    Every 1 y beginning at age 30-35

    Transvaginal U/S

    Every 1 y beginning at age 30-35

    Urinalysis with
    cytology

    Every 1-2 y beginning at age 25-35

    History & Exam w/ Every 1 y beginning at age 21


    review of systems
    Lindor NM, JAMA 2006; 296 : 1507 17

    Terima Kasih

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