How to manage rectal cancer?

Hello,

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I read your query and can understand your concern.

A 39-year-old man with comorbidities of diabetes, hypertension, and rectal carcinoma. A colonoscopy revealed a mass 1.5-2 centimeters from the anal verge extending approximately 10 centimeters. A magnetic resonance imaging (MRI) of the pelvis showed a tumor involving the internal sphincter and muscularis propria in the lower rectum and upper anal canal. The tumor did not extend into the icteric state. Four to five metastatic mesorectal lymph nodes were suspected.

There was also concern about a left operator being numb. Serum carcinoembryonic antigen (CEA) was normal. Biopsy showed moderately differentiated adenocarcinoma. A fluorodeoxyglucose (FDG) positron emission tomography (PET) - computed tomography (CT) scan showed FDG avid disease at the primary tumor site, but lymph nodes were not FDG-avid.

A programmed cell death ligand 1 (PDL1) was done, which was less than one percent positivity; however, next-generation sequencing showed a total mutation burden of 25, and microsatellite instability (MSI) was described as high.

There was a mutation in MSH6 as well as APC, ERBB2 3, KRAS, and PTEN. The MSH6 mutation has a variant allele fraction of 42 percent, highly suspicious for a germline mutation. The next-generation sequencing report itself recommended germline testing.

Neuroblastoma (NB) germline testing is now available, confirming germline MSH6 pathogenic mutation and Lynch Syndrome. See below for immune checkpoint inhibitors as the preferred treatment.

Although it was known from the biopsy that the tumor was microsatellite unstable, the medical record indicates that the patient was treated with chemoradiation therapy using tablet Capecitabine (antineoplastic) as a radiation sensitizer. There is no mention of the use of immune checkpoint inhibitor therapy.

The past medical history of this person includes

1. Diabetes.

2. Hypertension.

3. Beta-thalassemia.

   His father died at age 38 years from cardiac disease, so potentially a carrier of the Lynch syndrome variant who died before developing malignancy. Details regarding his father's family are not currently available.

   Kindly consult a specialist doctor, talk with them, and take medications with their consent.

   I hope this helps.

   Thank you.