Primary colon adenocarcinoma with choriocarcinoma differentiation: a case report and review of the literature

Abstract

Background Choriocarcinoma is an aggressive malignancy of trophoblastic tissue, typically of gestational etiology. Sporadic, nongestational cases are rarely found outside of the gonads. There are only 31 cases of primary choriocarcinoma of the colon reported in the literature. As a consequence of their rarity and aggressive nature, timely diagnosis and effective treatment have proved challenging, and prognosis is very poor. For that reason, we present a rare case with prolonged survival in the youngest reported patient . Case presentation A 26-year-old Caucasian woman presented with abdominal cramping and rectal and vaginal bleeding. Elevated serum human chorionic gonadotropin and an 8-cm right-sided mass seen on ultrasound suggested ectopic pregnancy. The patient was treated with methotrexate; however, her symptoms persisted, and her human chorionic gonadotropin levels continued to rise. Further workup showed a large mass of the sigmoid colon with multiple hepatic lesions suggestive of metastases. Preliminary pathology showed adenocarcinoma. Despite surgical resection and initiation of FOLFOX chemotherapy (folinic acid, fluorouracil, oxaliplatin), the patient had significant clinical deterioration, and her human chorionic gonadotropin increased exponentially. Further pathological review showed two distinct phenotypes: adenocarcinoma merging with choriocarcinoma. The result of evaluation of the metastatic lesions was also positive for choriocarcinoma. Treatment was promptly changed to a choriocarcinoma-targeting chemotherapy regimen of EMA/CO (etoposide, methotrexate, actinomycin D, cyclophosphamide, vincristine), resulting in rapid and dramatic response. The patient had mild progression after 1 year and was switched back to FOLFOX with bevacizumab. After five cycles, scans showed further progression, and the patient was started on third-line therapy with FOLFIRI (folinic acid, fluorouracil, irinotecan) and bevacizumab. Eighteen months after her diagnosis, the patient was alive and maintaining an overall response. Conclusions Our patient achieved a marked response and prolonged survival. Although a comprehensive review of the literature showed that survival with these tumors has improved over the past 10 years, prognosis remains poor. Currently, there is no established algorithm for the management of these rare tumors, but both the literature and our patient’s case indicate that a choriocarcinoma-targeted regimen is critical for survival. Further evaluation of these rare tumors is warranted in order to identify pathological patterns that may help in the diagnosis, management, and survival of these malignancies.

Intestinal metastasis from choriocarcinoma: a case series and literature review

“…Bina et al found that patients with intestinal metastases from gestational choriocarcinoma inevitably have a combination of pulmonary and hepatic metastases [ 17 ]. However, a review of 31 reported cases of primary intestinal choriocarcinoma revealed that 14 cases had pulmonary metastases, and 23 cases had liver metastases, of which 8 cases had liver metastases only [ 35 ].…”

“…There is usually a transition zone between the two tissue types, in which the adenocarcinoma component is composed of tall columnar cells. As the tumor spreads and metastases, the adenocarcinoma features gradually decrease, and the choriocarcinoma features gradually increase [ 1 , 35 , 39 ]. As such, liver metastasis from primary intestinal choriocarcinoma often only have choriocarcinoma components under a microscope.…”

Yolk Sac Tumor in a Recurrence of Colonic Adenocarcinoma With Shared Mutations in APC and TP53 Genes: A Case Report

“…A small number of cases of carcinoma with a germ cell tumor component, such as choriocarcinoma and YST, have been reported in various organs, including, but not limited to, the stomach 6 , gallbladder 7 , ovary and endometrium 8–10 , and urinary bladder. 11 In the colon, although both are rare, choriocarcinoma 1 is more frequently reported than YST. 2–5 Seemingly more common is colorectal adenocarcinoma with enteroblastic differentiation, 12,13 recently reported in case series.…”

“…Serum markers such as alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) may be elevated in these cases. In the large intestine, a small number of adenocarcinoma cases with choriocarcinoma component have been reported, 1 but cases with yolk sac tumor component are exceedingly rare. [2][3][4][5] Herein, we report a case of recurrent colon cancer with a yolk sac tumor component and evidence of shared TP53 and APC mutations in the primary and recurrent lesions.…”

Diagnostic and prognostic potential of the novel biomarker nuclear cap binding protein subunit 2 (NCBP2) in colon adenocarcinoma

“…Colon adenocarcinoma (COAD) is a malignant tumor that occurs in the colon or rectum (1,2), and ranks third in morbidity and second in mortality among all cancers worldwide. In Europe, approximately 250,000 new patients are diagnosed with COAD each year, accounting for about 9% of all malignancies (3,4).…”