In this editorial, I commented on the paper by Lin et al, published in this issue of the World Journal of Gastrointestinal Oncology. The work aimed at analysing the clinicopathologic characteristics and prognosis of synchronous and metachronous cancers in patients with dual primary gastric and colorectal cancer (CRC). The authors concluded the necessity for regular surveillance for metachronous cancer during postoperative follow-up and reported the prognosis is influenced by the gastric cancer (GC) stage rather than the CRC stage. Although surveillance was recommended in the conclusion, the authors did not explore this area in their study and did not include tests used for such surveillance. This editorial focuses on the most characterized gastrointestinal cancer susceptibility syndromes concerning dual gastric and CRCs. These include hereditary diffuse GC, familial adenomatous polyposis, hereditary nonpolyposis colon cancer, Lynch syndrome, and three major hamartomatous polyposis syndromes associated with CRC and GC, namely Peutz-Jeghers syndrome, juvenile polyposis syndrome, and PTEN hamartoma syndrome. Careful assessment of these syndromes/conditions, including inheritance, risk of gastric and colorectal or other cancer development, genetic mutations and recommended genetic investigations, is crucial for optimum management of these patients.

Hereditary colorectal cancer (hCRC) represents a major diagnostic and therapeutic challenge. In addition to the usual diagnostic methods, the family history, histological confirmation and mutation analysis play an important role in identifying the type of hereditary CRC. The diagnosis and classification of hCRC are carried out based on the anamnesis, clinical presentation and histology and the further treatment is determined depending on the underlying type of hCRC. For familial adenomatous polyposis (FAP) coloproctomucosectomy after the end of puberty is always recommended, whereas the treatment recommendations for other forms, such as attenuated FAP (aFAP), MUTYH-associated polyposis (MAP) and hereditary nonpolyposis colon cancer (HNPCC, Lynch syndrome), range from close surveillance and endoscopic control, through segmental resection up to colectomy. Irrespective of the type of hCRC, the treatment regimens necessitate an individualized approach and require close interdisciplinary cooperation. When colorectal resection is performed, minimally invasive procedures should principally be prioritized and some studies could demonstrate a potential benefit of robotic surgery compared to laparoscopy.
UNASSIGNED: Das hereditäre kolorektale Karzinom (KRK) repräsentiert eine große diagnostische und therapeutische Herausforderung. Neben den üblichen diagnostischen Methoden kommt der Familienanamnese sowie der histologischen Sicherung und Mutationsanalyse diesbezüglich eine herausragende Rolle zu. Gelingt anhand von Klinik, Anamnese und Histologie die Diagnose und Einordnung eines hereditären Karzinoms, wird je nach zugrunde liegender Form die weitere Therapie festgelegt. Während bei einer familiären adenomatösen Polyposis (FAP) immer eine Koloproktomukosektomie nach Abschluss der Pubertät empfohlen wird, reicht die Therapieempfehlung bei anderen Formen (attenuierter FAP [aFAP], MUTYH-assoziierte adenomatöse Polypose [MAP], hereditäres nichtpolypöses kolorektales Karzinom [HNPCC]/Lynch-Syndrom) je nach klinischer Präsentation von engmaschiger endoskopischer Kontrolle über onkologische Resektion bis hin zur Kolektomie. Allgemein gilt, dass die Behandlung hereditärer KRK eine individuelle Herangehensweise erfordert und eine enge interdisziplinäre Zusammenarbeit notwendig ist. Wird eine Operation durchgeführt, so sollte prinzipiell ein minimal-invasives Vorgehen bevorzugt werden, einzelne Studien konnten hierzu bereits einen potenziellen Nutzen der robotischen Chirurgie gegenüber der Laparoskopie herausarbeiten.

暂无摘要。

Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.

Approximately 10% of ovarian cancers are associated with inherited germline mutations, most commonly of the BRCA1 or BRCA2 genes. The majority of BRCA1 and BRCA2 cancers are high-grade serous carcinomas diagnosed at an advanced stage, and there are as yet no histologic features that distinguish these tumors from sporadic serous cancers. Many women identified as being at high genetic risk undergo prophylactic salpingo-oophorectomy, and careful histopathological examination of these specimens may identify occult carcinoma, frequently in the distal fallopian tube. In addition, serous cancer precursors, including tubal intraepithelial carcinoma, have been increasingly recognized in distal and fimbrial epithelium. Little has been documented to date of the histopathological features of the cancers associated with the hereditary nonpolyposis colon cancer syndrome, but it appears these ovarian cancers may include a variety of histologic types, and in contrast to the BRCA cancers, are low grade and early stage.

To detect the presence of point mutations in a small section of the mutS homolog2 (MSH2) gene in both healthy and affected persons treated at the General Hospital of the State of Sonora, a 353 base pair section of the MSH2 gene was amplified and sequenced from six persons affected by hereditary nonpolyposis colorectal cancer and from 19 healthy persons. The affected persons did not show the mutations reported in the scientific literature; however, six healthy persons were heterozygote and mutant-allele carriers. The heterozygote condition implies that carriers are candidates for the development of colorectal cancer. However, it is important to know the family medical history when investigating hereditary mutations.

Lynch syndrome is the most common familial colorectal cancer syndrome. It is linked to germline mutations in one of four DNA mismatch repair (MMR) genes. A comprehensive family history is one important way to identify at-risk individuals. The elucidation of the molecular genetics of this syndrome has made it possible to screen for the disorder with molecular tests. Microsatellite instability and/or immunohistochemistry followed by germline testing for mutations in MMR genes is now a standard approach for clinically suspected cases. Correctly recognizing Lynch syndrome is essential for the application of appropriate screening and surveillance measures. Close surveillance and risk-reducing operations can decrease cancer-related mortality. In addition, counseling is an important component of the management of any family with Lynch syndrome.

Colorectal cancer is one of the major causes of cancer deaths in both men and women. It is estimated that approximately 5% to 10% of patients with colorectal cancer have an inherited germline mutation that predisposes them to cancer. Clinically, hereditary colorectal cancer syndromes can be divided into those associated with colonic polyposis (familial adenomatous polyposis, attenuated familial adenomatous polyposis, and MYH-associated polyposis) and those not associated with colonic polyposis (hereditary nonpolyposis colon cancer). Treatment options for these patients include multiple aggressive screening regimens, chemopreventive medications, and prophylactic surgery. Selection of the appropriate management approach is best made using information obtained from the patient\'s clinical examination, the family medical history, and genetic evaluation. Compliance is improved when patients completely understand their disease and participate fully in the formulation of the treatment plan. Although not proved, it seems reasonable that this approach may prevent the poor outcomes so frequently associated with inherited cancer syndromes.