malignant liver tumor accounts for approximately 1% of all childhood tumor and two - third of all liver masses in children . hepatoblastoma and hepatocellular carcinoma together account for the majority of malignant liver tumors in children . malignant rhabdoid tumor ( mrt ) is a very rare malignant liver tumor with very dismal prognosis . a 6-month - old boy presented with a 15 days history of abdominal distension , irritability and reluctance to feed . the child was febrile with normal vitals ; abdomen was distended with hepatomegaly , no lump was felt . contrast enhanced computed tomography ( ct ) scan of the abdomen revealed multiple lesions in the liver ( both lobes ) , which were homogeneously hypodense ; had no evidence of calcification [ figure 1a and b ] . there was no change in the caliber of the infraceliac abdominal aorta or enlargement of the hepatic artery . magnetic resonance imaging ( mri ) showed that the lesions were hypointense on t1-weighted ( w ) and hyperintense on t2-w images [ figure 1c and d ] . a 24 h urinary vanillylmandelic acid was with in normal limits ( 0.46 mg / g of creatinine ) ; serum homovanillic acid was mildly raised ( 28.18 mg / g of creatinine ) ; and serum alpha - fetoprotein ( fp ) was within normal limits . fine needle aspiration cytology of the lesion was inconclusive ; hence , a wedge biopsy was performed through a minilaparotomy . macroscopic examination of the wedge showed a stretched out capsule on the exterior aspect with a tan colored tumor within showing areas of necrosis . on microscopic examination of h and e stained sections [ figure 2 ] the tumor cells had large nucleus having prominent nucleoli and moderate to abundant cytoplasm with pink inclusion bodies . the immunohistochemistry revealed positivity for cytokeratin and vimentin while it was negative for glycogen , desmin and chromogranin . patient was started on chemotherapy ( carboplatin , etoposide and cyclophosphamide ) , but died soon after of progressive tumor and massive unrelenting ascites . ( a and b ) axial contrast enhanced computed tomography images of the liver reveals multiple hypodense well - defined mass lesions in both lobes . axial magnetic image of the liver ( c ) reveals the lesions to be homogeneously hypointense spin - echo ( se ) t1-weighted ( w ) ( d ) and se t2-w with fat suppression shows multiple hyperintense masses in both lobes histology showing tumor cells with cytoplasmic eosinophilic inclusions and prominent nucleoli ( a ) ; immunopositive for cytokeratin ( b ) ; immunopositive for vimentin ( c ) ; absence of cytoplasmic glycogen on diastase periodic acid - schiff stain ( d ) ( all images at 400 ) mrt was first described in 1978 by beckwith and palmer as a rhabdomyosarcomatoid variant of wilms tumor with unfavorable prognosis . it was later recognized to be a distinct renal neoplasm of children with very dismal prognosis . it was labeled as rhabdoid tumor as the tumor contains sheets , cords and nest of cells resembling rhabdomyoblast with eosinophilic cytoplasm and eccentric nuclei . however , there is no evidence of muscle differentiation in these tumors . mrt mainly affects the kidney , but it has also been described in various other sites including liver , pelvis , central nervous system , abdomen , heart and other soft - tissues . percutaneous or open biopsy has been used for diagnosis , but sometimes it may be confused with undifferentiated hepatoblastoma . mrt are best characterized by the presence of round or polygonal cells with abundant eosinophilic cytoplasm , typical eosinophilic perinuclear inclusions , vesicular nuclei and prominent nucleoli . immunohistochemical expression of vimentin and epithelial markers and lack of staining for s-100 , myoglobin and desmin are commonly found , but are non - specific . in rhabdoid tumors smarcb1 appears to function as classic tumor suppressor gene and inactivation of both copies of the gene leads to loss of protein expression in the nucleus , which can be detected by immunohistochemistry . it has been demonstrated that mrt lacks immunostaining for baf 47 protein ( smarcb1 protein ) in the tumor cells due to a clonal mutation in ini1 gene . further , recurrent deletion of region 11.2 of the long arm of chromosome 22 ( 22q11.2 ) has been reported in the majority of mrt 's . there is a lot of controversy regarding the histogenesis of mrt and no definite agreement has been reached . various cellular origins have been described such as neuroectodermal , myogenic , histiocytic , epithelial and mesodermal . in the present case , a diagnosis of mrt of the liver was possible due to its characteristic histopathological finding of prominent nucleoli and typical cytoplasmic inclusions in the absence of elevated alpha fetoprotein levels . mrt of the liver was first described in 1982 by gonzalez - crussi et al . until date , there are fewer than 50 case reports of mrt of the liver in the english literature . mrt of the liver occurs mostly in infancy ( median age 8 months ) and affects male gender more commonly . these tumors typically present as right upper abdominal mass or abdominal distension or rarely with spontaneous rupture of the liver tumor and have systemic symptoms including fever , anorexia / vomiting and lethargy / malaise . of potential significance , 17% of patients present with spontaneous rupture of tumor , which is much more frequent than rupture in any other hepatic malignancy . they have been associated with secretion of parathoromone like substances causing hypercalcemia and with vasointestinal peptide induced watery diarrhea . presenting features that might be distinctive are systemic signs or symptoms like fever , a very elevated lactate dehydrogenase , a normal or near normal afp ( alphafeto protein ) level at diagnosis and perhaps the occurrence of spontaneous tumor rupture . some studies have reported that these tumors have a tendency to be large and hypodense on ct and show a heterogeneous hyperintensity on t2-w mri . unlike other malignant hepatic tumors in children , the mrt is notorious for its resistance to treatment and invariably fatal outcome . the recommended chemotherapy for mrt consists of carboplatin and etoposide alternating with cyclophosphamide . recent case reports have documented successful outcomes in patients with metastatic mrt treated with ifosfamide - carboplatin and etoposide or ifosfamide - etoposide alternating with vincristine - doxorubicin - cyclophosphamide and ifosfamide , vincristine and actinomycin . there are only a few reports of children achieving long - term survival with different therapeutic regimens . it has been observed that cyclin d1 is expressed at high levels in rhabdoid tumor . ablation of cyclin d1 has been shown to prevent rhabdoid tumor growth in the mouse model .
malignant rhabdoid tumor ( mrt ) is a rare , but aggressive tumor commonly arising from the kidney in young children . 
 extrarenal mrt has been reported in the literature in various other sites including the liver , pelvis , cns , abdomen , heart and other soft - tissues . 
 reported herein are the presentation , radiology , histopathology , immunohistochemistry , treatment and outcome of a 6 month infant with primary mrt of liver .