The TEOGIC study project: a comprehensive characterization of early onset gastrointestinal cancer in the Northern area of Spain.

BACKGROUND: Gastrointestinal cancers represent one of the most prevalent diseases worldwide. Strikingly, the incidence of Early Onset Gastrointestinal Cancer (EOGIC) has been rising during the last decades and changes in lifestyle and environmental exposure seem to play a role. EOGIC has been defined as a different entity compared to on-average gastrointestinal cancer, with distinct clinical and molecular characteristics. Inherent to the particularities of younger age, there is an unmet need for a tailored approach for the management of these patients. The TEOGIC proposes a comprehensive study to characterize EOGIC patients in the northern of Spain. METHODS: Patients with histologically confirmed new diagnosis of colorectal, gastroesophageal and pancreatic adenocarcinoma will be considered for two cohorts: EOGIC (≤ 50 years old) and non-EOGIC (60-75 years old), with a ratio of 1:2. Two hundred and forty patients will be recruited in 4 Public Hospitals from northern Spain. After receiving unified informed consent, demographic and clinical data of the patients will be collected in a REDCap database. Lifestyle related data will be obtained in questionnaires assessing diet, physical activity and the general quality of life of the patients before diagnosis. Biological samples prior to any onco-specific treatment will be obtained for the analyses of circulating inflammatory proteins, gut microbiota, and the proteome of the tumor microenvironment. Histologic characteristics and routine biomarkers will be also collected. Thereafter, data will be integrated and analyzed to assess tumor specific, pan-tumor and sex-associated differential characteristics of EOGIC. DISCUSSION: The underlying risk factors and differential characteristics of EOGIC remain poorly studied, particularly in our geographical area. Although limited by the exploratory nature and the small sample size estimated to be recruited, TEOGIC represents the first attempt to comprehensively characterize these young patients, and thus attend to their special needs. Findings derived from this study could contribute to raise awareness and preventive behaviors in the population. In parallel, molecular studies could lead to the identification of potential novel non-invasive biomarkers and therapeutic targets that would help in the development of the tailored clinical management of these patients, focusing on screening programs for early diagnosis and precision medicine.

[Retrorectal cystic hamartoma (tailgut cyst): an uncommon cause of recurrent abdominal pain.] / Hamartoma quístico retrorrectal (tailgut cyst): una causa infrecuente de dolor abdominal recurrente.

Retrorectal cystic hamartomas are rare congenital lesions that arise from aberrant remnants of the postanal gut. Most of them appear as asymptomatic lesions in middle-aged women but they can manifest with nonspecific symptoms such as abdominal or pelvic pain, constipation or diarrhoea, genitourinary symptoms, etc. Due to their anatomical position and variable presentation these lesions are often misdiagnosed. Complications include infection and malignant transformation, which is the reason why surgical treatment is always indicated. We report a case of a woman with recurrent episodes of abdominal pain that lasted for many years and increased progressively, conditioning her daily life activities. Image studies showed a non-complicated retrorectal cystic hamartoma. Complete surgical excision was achieved and the patient remains asymptomatic nowadays. Key words. Retrorectal cystic hamartoma. Abdominal pain.

Hamartoma quístico retrorrectal (tailgut cyst): una causa infrecuente de dolor abdominal recurrente / Retrorectal cystic hamartoma (tailgut cyst): an uncommon cause of recurrent abdominal pain

Los hamartomas quísticos retrorrectales son lesiones congénitas poco frecuentes derivadas de remanentes embrionarios postanales del intestino. La mayoría cursan como masas asintomáticas en mujeres de mediana edad, pero pueden manifestarse también con síntomas inespecíficos tales como dolor abdominal o pélvico, alteraciones en el ritmo intestinal, síntomas urinarios o ginecológicos etc. Debido a su posición anatómica y a su presentación variable suelen ser lesiones infradiagnosticadas. Las complicaciones más frecuentes son la infección y la malignización, por lo que el tratamiento debe ser siempre quirúrgico. Presentamos aquí el caso de una paciente con episodios recurrentes de dolor abdominal de varios años de evolución, que fueron intensificándose de forma progresiva hasta condicionarle las actividades de la vida diaria. Las pruebas de imagen demostraron la presencia de un hamartoma quístico retrorrectal no complicado. La paciente fue intervenida consiguiéndose una extirpación completa del tumor. A día de hoy permanece asintomática (AU)

Retrorectal cystic hamartomas are rare congenital lesions that arise from aberrant remnants of the postanal gut. Most of them appear as asymptomatic lesions in middle-aged women but they can manifest with nonspecific symptoms such as abdominal or pelvic pain, constipation or diarrhoea, genitourinary symptoms, etc. Due to their anatomical position and variable presentation these lesions are often misdiagnosed. Complications include infection and malignant transformation, that is the reason why surgical treatment is always indicated. We report a case of a woman with recurrent episodes of abdominal pain that lasted for many years and increased progressively, conditioning her daily life activities. Image studies showed a non-complicated retrorectal cystic hamartoma. Complete surgical excision was achieved and the patient remains asymptomatic nowadays (AU)