[CIS PIDD] [cis-pidd] XLA with colon cancer

[Seppänen Mikko]

Dear Richard,

I have, together with our Genetics professor Lauri Aaltonen, actually been interested in this phenomenon in XLA, since we had years ago one whose biopsy showed findings suggesting mismatch-repair defect. We have asked for a search of further patients from ESID and UKPIN databases, but we have not heard of that since.

However, Mary Conley had not seen such findings in her extensive patient cohort.

But if You want to have yours checked for this phenomenon, I am sure prof Aaltonen will do that for You!

Of treatment, I dare not say a word with my “extensive” experience (n=1).

It was nice talking to You at CIS!

All the best,

Mikko

Mikko Seppänen MD Finland

Lähettäjä: Richard Wasserman [mailto:drrichwasserman at gmail.com]
Lähetetty: 17. huhtikuuta 2014 0:21
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] XLA with colon cancer

I take care of a 34 yo with XLA and his two affected brothers. He has a new diagnosis of adenocarcinoma of the rectum. On colonoscopy a malignant polyp was completely excised. Metastatic work up is in progress. The plan is to treat him with Capecitabine and radiation to the rectum in an effort to preserve rectal function. We would be interested in any experience with similar patients.

Thank you,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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