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1.
BMJ Case Rep ; 16(7)2023 Jul 10.
Article in English | MEDLINE | ID: mdl-37429643

ABSTRACT

Colorectal cancer is currently the third most frequently diagnosed type of cancer and the second cause of cancer death in the western world. Inflammatory bowel disease patients are 2-6 times more likely to develop CRC than the general population. Patients with CRC arising through Inflammatory Bowel Disease have an indication for surgery. However, in patients without Inflammatory Bowel Disease, the use of organ (rectum) preservation strategies after neoadjuvant treatment is on the rise, which means that patients are able to keep the organ without the need for complete excision, either by treatment with radiotherapy and chemotherapy, or in combination with endoscopic or surgical techniques that allow local excision without the need for resection of the entire organ. The patient management approach known as the Watch and Wait programme was first introduced in 2004 by a team from São Paulo, Brazil. This approach suggested that patients who had an excellent or complete clinical response after neoadjuvant treatment could defer surgery and instead undergo Watch and Wait. This organ preservation technique became popular because it allowed patients to avoid the complications associated with major surgery while achieving similar oncological outcomes to those who underwent both neoadjuvant therapy and radical surgery. Following completion of neoadjuvant treatment, a decision to defer surgery is made based on whether a clinical Complete Response can be achieved, which means there is no evidence of tumour in clinical and radiological examination. The International Watch and Wait Database has published long-term oncological outcomes for patients treated with this strategy, and more patients are showing interest in this treatment option. However, it is important to note that up to 1/3 of patients selected for Watch and Wait may eventually require surgery for local regrowth (also known as 'deferred definitive surgery') at any time during follow-up after an initial 'apparent' clinical Complete Response. Compliance with a strict surveillance protocol ensures early detection of regrowth, which is usually amenable to R0 surgery and provides excellent long-term local disease control. Nonetheless, it is crucial to assess the perioperative consequences of having surgery for regrowth later and whether there are any negative effects from deferring surgery. Currently, the Watch and Wait strategy is recommended in the NCCN guidelines for clinical complete responders and only in specialised multidisciplinary centres.There is no case in the literature that portrays the use of the Watch and Wait programme for patients with inflammatory bowel disease and rectal cancer.The authors intend to present a case that demonstrates the difficulties in the assessment of patients with inflammatory bowel disease, the risks of using radiotherapy in this patients and the challenges of surveillance for patients with colorectal cancer and inflammatory bowel disease.


Subject(s)
Rectal Neoplasms , Watchful Waiting , Humans , Watchful Waiting/methods , Brazil , Rectal Neoplasms/pathology , Rectum/pathology , Chemoradiotherapy/methods , Neoadjuvant Therapy , Neoplasm Recurrence, Local/drug therapy , Treatment Outcome
2.
Int J Cancer ; 145(2): 318-326, 2019 07 15.
Article in English | MEDLINE | ID: mdl-30303536

ABSTRACT

Colorectal cancer (CRC) is one of the most common cancers in Latin America and the Caribbean, with the highest rates reported for Uruguay, Brazil and Argentina. We provide a global snapshot of the CRC patterns, how screening is performed, and compared/contrasted to the genetic profile of Lynch syndrome (LS) in the region. From the literature, we find that only nine (20%) of the Latin America and the Caribbean countries have developed guidelines for early detection of CRC, and also with a low adherence. We describe a genetic profile of LS, including a total of 2,685 suspected families, where confirmed LS ranged from 8% in Uruguay and Argentina to 60% in Peru. Among confirmed LS, path_MLH1 variants were most commonly identified in Peru (82%), Mexico (80%), Chile (60%), and path_MSH2/EPCAM variants were most frequently identified in Colombia (80%) and Argentina (47%). Path_MSH6 and path_PMS2 variants were less common, but they showed important presence in Brazil (15%) and Chile (10%), respectively. Important differences exist at identifying LS families in Latin American countries, where the spectrum of path_MLH1 and path_MSH2 variants are those most frequently identified. Our findings have an impact on the evaluation of the patients and their relatives at risk for LS, derived from the gene affected. Although the awareness of hereditary cancer and genetic testing has improved in the last decade, it is remains deficient, with 39%-80% of the families not being identified for LS among those who actually met both the clinical criteria for LS and showed MMR deficiency.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/epidemiology , MutL Protein Homolog 1/genetics , MutS Homolog 2 Protein/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Early Detection of Cancer , Female , Guideline Adherence , Humans , Latin America/epidemiology , Male , Practice Guidelines as Topic , Risk Assessment
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