Fareeha Abid, MD1, Onyeka O. Nwachukwu, MD2, Qirat Jawed, MBBS, MD1, Pallavi Pokharel, 3, Ana Lucia Romero, MD4, Hasham Saeed, MBBS, MD3, Muhammad Noori, MD1, Michelle Cholankeril, MD1 1Trinitas Regional Medical Center, Elizabeth, NJ; 2Rutgers Health/Trinitas Regional America Center, Elizabeth, NJ; 3RWJBarnabas Health/Trinitas Regional Medical Center, Elizabeth, NJ; 4RWJ Barnabas Health/Trinitas Regional Medical Center, Elizabeth, NJ
Introduction: Colorectal cancer (CRC) is the fourth most diagnosed cancer in the world (1) with an overall lifetime risk of 4.3% for men and 4% for women (2). Adenocarcinomas account for 96% of all CRC (3), while Perianal adenocarcinomas account for 2-3% of all gastrointestinal malignancies (4), usually originating from perianal abscesses and Fistula in Ano. Here we present an unusual case of a 74-year-old man who presented with a right gluteal lesion and was found to have moderately differentiated adenocarcinoma on punch biopsy with immunochemistry (IHC) suggestive of colorectal origin. However, lesion in the colon was not identified.
Case Description/Methods: The patient is a 74-year-old man with a past medical history of Crohn's disease with recurrent perianal fistulas and abscesses who presented with a progressively increasing right gluteal lesion for the past two years. Physical examination revealed a large fungating friable mass extending over the entire right buttock area, with yellow foul-smelling slough and serosanguineous discharge. Laboratory workup revealed leucocytosis, microcytic anaemia, and elevated carcinoembryonic antigen (CEA) levels. An MRI of the pelvis revealed a 9.8 x 16.1 x 7.7 cm heterogenous mass inseparable from the posterior aspect of the anus and along the course of a previously seen perianal fistula. Histopathology of a punch biopsy of the mass was consistent with moderately differentiated adenocarcinoma, and IHC was suggestive of colorectal origin. Astonishingly, a luminal tumor was not identified on colonoscopy.
Discussion: Cancer of unknown primary (CUP) is a relatively rare clinical entity and their ability to metastasis prior to formation of a clinically identifiable primary is a diagnostic challenge. Although imaging such as CT and PET scans are helpful, light microscopic examination of initial biopsy is the most important clue towards the organ/site of origin. Peculiar findings should prompt IHC as highlighted in this unusual case.
Figure: gross appearance of tumor
Disclosures:
Fareeha Abid indicated no relevant financial relationships.
Onyeka Nwachukwu indicated no relevant financial relationships.
Qirat Jawed indicated no relevant financial relationships.
Pallavi Pokharel indicated no relevant financial relationships.
Ana Lucia Romero indicated no relevant financial relationships.
Hasham Saeed indicated no relevant financial relationships.
Muhammad Noori indicated no relevant financial relationships.
Michelle Cholankeril indicated no relevant financial relationships.
Fareeha Abid, MD1, Onyeka O. Nwachukwu, MD2, Qirat Jawed, MBBS, MD1, Pallavi Pokharel, 3, Ana Lucia Romero, MD4, Hasham Saeed, MBBS, MD3, Muhammad Noori, MD1, Michelle Cholankeril, MD1. D0141 - Unusual Presentation of Cancer of Unknown Primary Origin, ACG 2022 Annual Scientific Meeting Abstracts. Charlotte, NC: American College of Gastroenterology.