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

[Conley, Mary Ellen]

Hello Richard and Mikko and friends,

I know of about 6 or 7 patients with XLA who developed adenocarcinomas of the GI tract - from stomach all the way to the end. Generally these patients have been young adults, younger than those with typical adenocarcinomas. In the otherwise healthy population, GI cancer at a young age is associated with a poor prognosis but at least 5 of the patients that I know about responded well to treatment. One patient, who was diagnosed with XLA as an adult when his grandson was recognized to have mutation proven XLA, had 2 episodes of colonic CA, several years apart. I do know of one patient, cared for by Sandro Plebani, died of rapidly progressive GI carcinoma.



I am not sure that GI carcinoma in a young adult with XLA is the same as GI carcinoma in the "healthy population". Chronic low grade infection may result in increased cell proliferation at the mucosal surfaces, resulting in increased opportunities for mutation. Mikko's question about mismatch repair is an interesting one. Because almost half of patient with XLA are the first manifestation of a new mutation, I have wondered about mismatch repair defects or polymorphisms in the source of the new mutation (usually the maternal grandfather).



I don't have any advice about therapy except that I would strongly support prophylactic antibiotics - but then I support prophylactic antibiotics for most patients with XLA.

Good luck,

Mary Ellen (please note my new email address!)



Mary Ellen Conley, MD

The Rockefeller University

New York, NY

________________________________
From: Seppänen Mikko [Mikko.Seppanen at hus.fi]
Sent: Thursday, April 17, 2014 12:26 AM
To: CIS-PIDD
Cc: 'lauri.aaltonen at helsinki.fi'
Subject: VS: [cis-pidd] XLA with colon cancer

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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