Fistula-Associated Anal Adenocarcinoma: A 20-Year Single-Center Experience.
Ann Surg Oncol
; 30(6): 3517-3527, 2023 Jun.
Article
em En
| MEDLINE
| ID: mdl-36757514
ABSTRACT
BACKGROUND:
Fistula-associated anal adenocarcinoma (FAAC) is a rare consequence in patients with long-standing perianal fistulas. A paucity of data are available for this patient collective, making clinical characterization and management of this disease difficult.OBJECTIVE:
This study aimed to describe a single-center experience with FAAC patients, their clinical course, and histopathological and molecular pathological characterization.METHODS:
All patients receiving surgery for an anal fistula in 1999-2019 at a tertiary university referral hospital were included in this retrospective analysis. Patients with FAAC were eligible for histopathological analysis, including immunohistochemistry and molecular profiling.RESULTS:
This study included 1004 patients receiving surgical treatment for an anal fistula, of whom 242 had an underlying inflammatory bowel disease (IBD). Ten patients were diagnosed with a fistula-associated anal carcinoma (1.0%), and six of these patients had an FAAC (0.6%). The mean overall survival of FAAC patients was 24 ± 3 months. FAAC immunohistochemistry revealed positive staining for CK20, CDX2 and MUC2, while stainings for CK5/6 and CK7 were negative. All FAAC specimens revealed microsatellite stability. Molecular profiling detected mutations in 35 genes, with the most frequent mutations being TP53, NOTCH1, NOTCH3, ATM, PIK3R1 and SMAD4.CONCLUSION:
FAAC is rare but associated with poor clinical outcome. Tissue acquisition is crucial for early diagnosis and therapy and should be performed in long-standing, non-healing, IBD-associated fistulas in particular. The immunophenotype of FAAC seems more similar to the rectal-type mucosa than the anal glands.
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias do Ânus
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Doenças Inflamatórias Intestinais
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Adenocarcinoma
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Fístula Retal
Tipo de estudo:
Diagnostic_studies
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Etiology_studies
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Observational_studies
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Risk_factors_studies
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Screening_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2023
Tipo de documento:
Article