Rectal Paraganglioma

Abstract

A 57-year-old woman was admitted with lower abdominal pain and bloody bowel discharge. She was diagnosed with rectal tumor by colonoscopy, and a biopsy was performed. Surgery was performed, resulting in a diagnosis of rectal paraganglioma. Since recurrence was confirmed three years later, reoperation was done, and chemotherapy with cyclophosphamide, vincristine and dacarbazine (CVD) was subsequently carried out for further recurrence. After the administration of up to 15 courses of CVD, we delivered best supportive care due to disease progression. She died a year and a half after starting chemotherapy. We herein report this rare disease with a review of the relevant literature.

A case report of primary colonic paraganglioma with lymph node metastasis

“…The immunohistochemical results were similar to those in our case; all cases were positive for neuroendocrine markers, and S-100 highlighted sustentacular cells. Furthermore, there are currently three reports of paraganglioma originating in the rectum, and we concluded that the microscopic morphological features and immunohistochemical results were similar to our case, with main organ-like nests (3,5,8). However, the cell proliferation activity in these three rectum-origin cases was high, and the index of Ki-67 was 20%, 41%, and 50%, respectively (3, 5, 8) Among the eight cases mentioned above, only three performed SDHB immunohistochemical staining and were diagnosed with SDHx-related paragangliomas.…”

“…The incidence of PPGL is approximately 0.6 cases per 100,000 people ( 2 ). The peak incidence of PPGL is observed in 20–40-year-old individuals, the average age of onset of hereditary cases is 24.9 years, the average age of onset of sporadic cases is 43.9 years, and there are no differences among the incidences in terms of sex ( 3 ). In the 2017 WHO classification of endocrine tumors, PPGLs were classified as malignant tumors from previous benign, borderline, or biologically uncertain tumors.…”

Colorectal paragangliomas with immunohistochemical deficiency of succinate dehydrogenase subunit B

“…Since that time, she suffered the recurrent tumor metastases and died of multiple metastases of paraganglioma 6 years after the initial operation. Patient 2 was previously reported with clinicopathological data and chemotherapy in detail by Araki et al [3], however, SDHBimmunohistochemistry was first carried out this time. In the present paper, we added data of SDHBimmunohistochemistry and compared pathologic findings of Case 1 and Case 2.…”

“…Case 2 had metastasis at the time of the initial operation, received no adjunctive therapy after surgery and was well at the 9-month Endocrine Journal Advance Publication follow-up [2]. Case 3 had lymph node metastasis three years after the operation, suffered multiple metastases in different organs during her life, and expired approximately 5 years after the operation [3]. The common characteristic of our cases, Case 4 and Case 5 was the lack of SDHB-positive immunohistochemistry (SDHBdeficiency).…”

“…PARAGANGLIOMAS (PGLs) are rare neural crestderived non-epithelial neuroendocrine tumors, which locate around the sympathetic and parasympathetic ganglia and nerves. PGLs in the colorectum have been very rarely reported [1][2][3]. Among more than 20 types of genetic and somatic mutations that are related to PGLs, succinate dehydrogenase (SDH) enzyme complex II, that is comprised of four subunit A, B, C, or D gene mutationrelated paragangliomas account for approximately 10% of the total mutations and for more than 40% of the total metastatic PGLs [4].…”