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HNPCC. Polyps?

Does HNPCC have polyps? I have a big Robbins, but doesn’t seem to
state it explicity or very well in the figures. Why is the N for Non-?

Anyone help a budding [sic] future pathologist?

All the best,
Robert

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posted by admin in Uncategorized and have Comments (7)

7 Responses to “HNPCC. Polyps?”

  1. admin says:

    In article <3885b9d8.829…@news.esatclear.ie>, Robert O’Connor

    <ro…@–spamsad–ireland.com> wrote:
    > Does HNPCC have polyps?

    Does HNPCC have a name? ;)

    Ed


    Ed Uthman, MD <uth…@neosoft.com>              "Nemo liber est qui
    Pathologist, Houston/Richmond, Texas, USA        corpori servit"
    <http://www.neosoft.com/~uthman&gt;                            -Seneca

  2. admin says:

    And the times were Wed, 19 Jan 2000 18:15:11 -0600. And lo, I beheld
    Ed Uthman <uth…@neosoft.com> who spoke unto the multitudes, saying:

    >Does HNPCC have a name? ;)

    >Ed

    Hey Ed,

    Wow are all helpful pathologist’s named Ed? I use Ed’s pathology notes
    (pathguy.com) on the Internet which are very nicely done.

    The full name of HNPCC is Heriditary Nonpolyposis Colon Cancer
    Syndrome.

    I did some further investigation today, and it looks like polyps, but
    why call it "Non"-polyposis if there is polyps? Is this part of the
    oft-whispered covert underground cabal that seeks to thrwart medical
    students around the world through offbeat nomenclature?

    -Worried in Dublin-
    All the best,
    Robert

  3. admin says:

    In article <3886afaf.24415…@news.esatclear.ie>, Robert O’Connor

    <ro…@–spamsad–ireland.com> wrote:
    > The full name of HNPCC is Heriditary Nonpolyposis Colon Cancer
    > Syndrome.

    Ah, Lynch Syndrome. Thanks!

    Ed


    Ed Uthman, MD <uth…@neosoft.com>              "Nemo liber est qui
    Pathologist, Houston/Richmond, Texas, USA        corpori servit"
    <http://www.neosoft.com/~uthman&gt;                            -Seneca

  4. admin says:

    Robert O’Connor wrote in message <3885b9d8.829…@news.esatclear.ie>…
    >Does HNPCC have polyps? I have a big Robbins, but doesn’t seem to
    >state it explicity or very well in the figures. Why is the N for Non-?

    >Anyone help a budding [sic] future pathologist?

    >All the best,
    >Robert

    Dear Robert

    I saw your question and thought I would send you my two bits as HNPCC is a
    research area of mine.

    HNPCC is a dominantly inherited condition that is the result of inheriting
    mutations to the DNA mismatch repair system genes including MLH1, MSH2, MSH6
    among others. The condition is characterized by increased risk of colonic
    cancer development at an early age. The cancers are typically right sided,
    mucinous, and high grade. Paradoxically they tend to have a better behavior
    than sporadic cancers. HNPCC carriers are also at risk of endometrial
    cancer, and cancers of other parts of the GI system (stomach, hepatobilliary
    and pancreas). They are characterized at a molecular level by a feature
    called "microsatellite instability" or "MSI" in which DNA dinucleotide and
    trinucleotide repeat sequences show expansion and contraction. MSI also
    occurs in a subset of sporadic colonic tumors. A recent paper in NEJM has
    shown that colonic tumors with MSI tend to be resistant to chemotherapy.

    The tern non-polyposis was coined to distinguish the syndrome from familial
    adenomatous polyposis coli or "FAP" which is due to APC gene mutations. In
    this condition the colon develops thousands of adenomatous polyps.

    HNPCC cancers are still probably preceded by polyps,as evidence exists that
    prophylactic polypectomies will reduce the risk of cancer development in
    these persons. However, the polyps are sparse unlike FAP hence the name
    non-polyposis.

    HNPCC is one of the most common genetic abnormalities affecting between 1
    and three percent of the population and account for up to 10% of colonic
    cancers.

    Hope that answers your question,

    Tony Magliocco

  5. admin says:

    In article <53Sh4.19167$j%2.1…@cabot.ops.attcanada.net>, Anthony

    Magliocco <anthony.maglio…@attcanada.net> wrote:
    > I saw your question and thought I would send you my two bits as HNPCC is a
    > research area of mine.

    Nice summary, Tony. Thanks!

    Ed


    Ed Uthman, MD <uth…@neosoft.com>              "Nemo liber est qui
    Pathologist, Houston/Richmond, Texas, USA        corpori servit"
    <http://www.neosoft.com/~uthman&gt;                            -Seneca

  6. admin says:

    Tony,

    Thanks very much for your imparting of wisdom. Things clear as can be
    now.

    All the best,
    Robert

    And the times were Fri, 21 Jan 2000 05:23:13 GMT. And lo, I beheld
    "Anthony Magliocco" <anthony.maglio…@attcanada.net> who spoke unto
    the multitudes, saying:

    - Hide quoted text — Show quoted text -

    >Robert O’Connor wrote in message <3885b9d8.829…@news.esatclear.ie>…
    >>Does HNPCC have polyps? I have a big Robbins, but doesn’t seem to
    >>state it explicity or very well in the figures. Why is the N for Non-?

    >>Anyone help a budding [sic] future pathologist?

    >>All the best,
    >>Robert

    >Dear Robert

    >I saw your question and thought I would send you my two bits as HNPCC is a
    >research area of mine.

    >HNPCC is a dominantly inherited condition that is the result of inheriting
    >mutations to the DNA mismatch repair system genes including MLH1, MSH2, MSH6
    >among others. The condition is characterized by increased risk of colonic
    >cancer development at an early age. The cancers are typically right sided,
    >mucinous, and high grade. Paradoxically they tend to have a better behavior
    >than sporadic cancers. HNPCC carriers are also at risk of endometrial
    >cancer, and cancers of other parts of the GI system (stomach, hepatobilliary
    >and pancreas). They are characterized at a molecular level by a feature
    >called "microsatellite instability" or "MSI" in which DNA dinucleotide and
    >trinucleotide repeat sequences show expansion and contraction. MSI also
    >occurs in a subset of sporadic colonic tumors. A recent paper in NEJM has
    >shown that colonic tumors with MSI tend to be resistant to chemotherapy.

    >The tern non-polyposis was coined to distinguish the syndrome from familial
    >adenomatous polyposis coli or "FAP" which is due to APC gene mutations. In
    >this condition the colon develops thousands of adenomatous polyps.

    >HNPCC cancers are still probably preceded by polyps,as evidence exists that
    >prophylactic polypectomies will reduce the risk of cancer development in
    >these persons. However, the polyps are sparse unlike FAP hence the name
    >non-polyposis.

    >HNPCC is one of the most common genetic abnormalities affecting between 1
    >and three percent of the population and account for up to 10% of colonic
    >cancers.

    >Hope that answers your question,

    >Tony Magliocco

  7. admin says:

    Anthony Magliocco wrote in message

    <53Sh4.19167$j%2.1…@cabot.ops.attcanada.net>…

    >The cancers are typically right sided,
    >mucinous, and high grade.

    Majority of HNPCC-associated carcinomas do not show all these
    characteristics (right-sided location, mucinous histology and high-grade)
    together.  They are just more frequently right-sided or more frequently
    mucinous or more frequently high-grade than sporadic carcinomas.

    >They are characterized at a molecular level by a feature
    >called "microsatellite instability" or "MSI" in which DNA dinucleotide and
    >trinucleotide repeat sequences show expansion and contraction.

    Probably the most sensitive and specific marker of micorsatellite
    instability is a mononucleotide repeat BAT-26.

    >The tern non-polyposis was coined to distinguish the syndrome from familial
    >adenomatous polyposis coli or "FAP" which is due to APC gene mutations. In
    >this condition the colon develops thousands of adenomatous polyps.

    There are some rare abortive forms of APC with few (less than 100) polypoid
    adenomas and they may constitute problems in differential diagnosis with the
    Lynch syndrome.

    >HNPCC cancers are still probably preceded by polyps

    Exactly — but once an adenoma develops is progresses to carcinoma much
    faster than a "regular" or even APC-associated adenoma.

    Zbigniew Rudzki
    Dept. Pathol.
    Jagiellonian Univ.
    PL

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