Malignant rhabdoid tumor of the liver in a middle-aged woman: a case report and literature review

Abstract

Background Extrarenal malignant rhabdoid tumor (EMRT) is a rare and high-mortality malignant tumor, which is more common in infants and rarely seen in adults. We firstly report a case of liver malignant rhabdoid tumor (MRT) with a loss of SMARCB1 gene (alias INI1, SNF5, BAF47) expression in a middle-aged woman, and preliminarily summarize the clinical characteristics and discuss its potential treatment of liver MRT by reviewing 55 cases reported in the past. Case presentation We report a 40-year-old woman who was admitted to our hospital for right epigastric pain. Previously, the patient was treated with liver hematoma in another hospital until she came to our hospital for abdominal pain again. In our hospital, we performed surgical treatment on her and the pathology diagnosed EMRT with negative expression of SMARCB1. After surgery, the patient underwent genetic testing, but failed to screen for sensitive targeted or conventional chemotherapy drugs, and she did not receive further treatment. Due to lack of timely diagnosis and effective chemotherapy drugs, tumor recurrence and metastasis occurred one year after surgery. Then the patient chose traditional Chinese medicine for treatment. And the metastatic tumors had still progressed after one year of treatment, but the patient didn’t have obvious discomfort symptoms. Conclusions Liver MRT is a highly aggressive tumor with high metastatic potential and poor prognosis. It lacks specific symptoms and signs and is easy to be ignored and misdiagnosed. The mortality rate is extremely high as there is no effective treatment. But most tumors are accompanied by SMARCB1 deficiency, which may offer new research directions for cancer therapeutics. For the present, early detection, early diagnosis and early resection remain the key to improve the prognosis of patients.

Malignant Extrarenal Rhabdoid Tumor Derived from the Greater Omentum: A Case Report and Literature Review

“…Haikun Yeet al reported that a patient with MERT in the liver had metastases in the abdomen and pelvis on abdominal CT review one month after modified right hemihepatectomy, and the patient personally chose traditional Chinese medicine (astragalus, scubelia, hedyotis, oyster and other medicinal materials). [11] After one year of treatment with traditional Chinese medicine, based on what the patient described, abdominal CT reexamination showed that the metastatic tumors had progressed compared with before, but the patient was generally in good condition without obvious symptoms and signs. It can be seen that traditional Chinese medicine treatment has a positive significance in maintaining clinical symptoms, but there is a lack of evidence for etiological treatment.…”

“…Reviewing the cases of MERT in recent 10 years, it was found that ultrasound and abdominal CT scan lacked specificity. There is usually hypoechoic or isoechoic masses by ultrasound , and there is a mass with regular shape, clear boundaries, and uneven density, [11] or a dense wall and necrotic center which were been seen by CT. [3] The tumor can be characterized by imaging, with difficult to distinguish between benign and malignant tumor. The final diagnosis is made by pathological and histological examination.…”

Case report: A rare case of omental extrarenal rhabdoid tumor and review of the literature

“…Renal rhabdoid tumor is a new subtype that was isolated from nephroblastoma and first reported by Beckwith in 1978 ( 3 ). Later, it was reported in other organs other than the kidney, including the heart ( 4 ), lung ( 5 ), liver ( 6 ), orbit ( 7 ), intestinal tract ( 8 ), vulva ( 9 ), and central nervous system ( 10 ). According to the location of the tumor, it can be divided into three types: malignant rhabdoid tumor of the kidney (MRTK), central nervous system atypical teratoid/rhabdoid tumor, and extrarenal extracranial rhabdoid tumor (EERT) ( 11 ).…”