Cytologic features of malignant rhabdoid tumor of the liver: A case report and literature review

Abstract

As one of the SMARCB1‐deficient tumors, malignant rhabdoid tumor (MRT) of the liver is a rare and aggressive malignancy, typically in young children below the age of 3 years. The diagnosis of MRT of the liver is challenging both clinically and pathologically due to the rarity of the tumor and misdiagnosing it as a hepatoblastoma is not uncommon. Although MRT of the liver and hepatoblastoma share some similar clinical and morphological features, their prognosis and the clinical management are significantly different. Therefore, an accurate diagnosis of MRT or hepatoblastoma is critical for patient care. Here we report a case of an 8‐month‐old female with MRT of the liver diagnosed by fine needle aspiration and core biopsy. The cytologic and histological features, the results of immunohistochemical studies, and clinical follow‐up information are presented. Recent literature regarding the diagnosis and treatment of this tumor were reviewed.

Decoding the rhabdoid riddle in liver: A rare case of primary hepatic malignant rhabdoid tumor with a comprehensive literature review

“…Around 76% of the patients had metastatic disease at presentation, with lungs and lymph nodes being the most common sites of metastasis. 8,14 The current patient had respiratory distress at presentation, and a chest X-ray revealed lung metastasis.…”

“…2,3 MRT of the liver is exceptionally infrequent and accounts for less than 5% of all pediatric hepatic malignancies. 5,8,17 The clinicopathological findings are limited to few case reports and series due to the rarity of this entity. A series of six cases of hepatic MRT by Cornet et al revealed a median age of presentation of 5 months, which is similar to the current case.…”

“…6,7 On reviewing the literature, we found only a handful of previous studies documenting the role of cytomorphology and immunocytochemistry in diagnosing hepatic MRT (Table 1). [8][9][10][11] The characteristic cytomorphologic features include predominantly dispersed population of large polygonal to epithelioid cells with round to oval, eccentrically placed nuclei, vesicular chromatin, prominent macro nucleoli, and abundant pale to eosinophilic cytoplasm. Few cells may show intracytoplasmic hyaline inclusions.…”

“…A comprehensive review of the published literature revealed only four such reports. [8][9][10][11] The closest cytomorphologic mimic is the small cell undifferentiated variant of hepatoblastoma, which needs to be carefully differentiated from hepatic MRT owing to the prognostic and therapeutic differences. The use of ancillary techniques, such as immunocytochemistry applied to the cell block sections, and performance of molecular tests using the cytologic smears has improved the precision of cytology in differentiating these tumors.…”

“…The use of ancillary techniques, such as immunocytochemistry applied to the cell block sections, and performance of molecular tests using the cytologic smears has improved the precision of cytology in differentiating these tumors. 8,12,13 Primary hepatic MRT generally follows an aggressive clinical course. A significant majority of these patients show distant metastasis, either to the lungs or lymph nodes, at presentation, highlighting the aggressive nature of the tumor.…”