Volume 9 Supplement 1

Proceedings of the 14th Annual Meeting of the Collaborative Group of the Americas on Inherited Colorectal Cancer

Open Access

Rectal cancer in patients with hereditary nonpolyposis colorectal cancer: Surgical management and survival outcomes

  • Y Nancy You1Email author,
  • Devki S Saraiya2,
  • Thuy M Vu1,
  • Jula Veerapong1,
  • Patrick M Lynch2 and
  • Miguel A Rodriguez-Bigas1
Hereditary Cancer in Clinical Practice20119(Suppl 1):P41

https://doi.org/10.1186/1897-4287-9-S1-P41

Published: 10 March 2011

Background

Hereditary nonpolyposis colorectal cancer (HNPCC) is hallmarked by microsatellite instability. The prognosis of HNPCC-related colon cancer is well characterized, but little is known about rectal cancers. The aim of this study was to report the long-term outcomes of HNPCC-related rectal cancer where current-era multimodality therapy was utilized.

Methods

Patients referred to our institution for either primary or recurrent rectal cancer between 1992-2010 were identified based on following inclusion criteria: 1) pathogenic germline mutation in DNA mismatch repair genes (MMR; n=19); 2) germline variants of uncertain significance but tumor studies suggestive of MMR (n=6); 3) suggestive tumor studies but negative germline testing (n=5); and 4) suggestive tumor studies but no germline testing (n=4). Patients were reviewed for clinical characteristics and treatments, and followed to death or last contact.

Results

Among the 34 patients, 21 (62%) were female. The median age at diagnosis of rectal cancer was 40 (range: 20-72). In 28 patients (82%), this was the index cancer leading to the diagnosis of HNPCC, and in 22 patients (65%), this was their first malignancy. Only a minority satisfied Amsterdam I (21%) or Amsterdam II (21%) criteria, while nearly all (94%) met the revised Bethesda criteria. Pathogenic mutations included MLH1 (15%), MSH2 (32%) and MSH6 (9%). The majority (67%) presented with locally advanced (T3/T4 and/or node positive, n=20) or metastatic disease (n=3), and 50% received neoadjuvant radiation with 5-FU based chemotherapy. Final pathologic stages are as outlined below. Patients underwent proctectomy (65%), total/near total coloproctectomy (21%), transanal excision (9%), and chemoradiation only (3%). Multivisceral resection was required in 9 patients (28%) and adjuvant therapy was given in 24 (71%). After a median followup of 4.1 years, 94% were alive. Six patients developed local-regional (n=3) or distant (n=3) disease recurrence, and 5 underwent successful surgical salvage. Metachronous CRC was found in 4 patients (12%) after a median of 8 years (range: 3.2-17), and all were amenable to surgical resection. The estimated 5-year freedom from recurrent or metachronous CRC was 76%. The 5-year overall survival was 93%, which was preserved at 10-years. Table 1.

Table 1

Pathologic Stage

After neoadjuvant (n=17)

No neoadjuvant (n=17)

Total (n=50)

0

5 (29%)

2(12%)

7 (21%)

I

2 (12%)

6 (35%)

8 (24%)

II

4 (24%)

5 (29%)

9 (26%)

III

5 (29%)

2 (12%)

7 (21%)

IV

1 (6%)

 

1 (3%)

Unknown

 

2 (12%)

2 (5%)

Discussion

Rectal cancer may present as the index cancer for HNPCC over a wide age range. Despite advanced stages at presentation, excellent long-term prognosis can be expected with aggressive multimodality therapy. Vigilant surveillance for recurrent or metachronous CRC should be carried out over a prolonged time period to allow for repeat surgical salvage and preserved long-term survival.

Authors’ Affiliations

(1)
Surgical Oncology, UT M.D. Anderson Cancer Center
(2)
Gastroenterology, Hepatology & Nutrition, UT M.D. Anderson Cancer Center

Copyright

© Nancy You et al; licensee BioMed Central Ltd. 2011

This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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