et al

Pathology International 2004; 54: 623629

Case Report

Malignant rhabdoid tumor of the liver: Case report and

literature review

Takashi Yuri,1 Naoyuki Danbara,1 Nobuaki Shikata,1 Sachiko Fujimoto,2 Takahide Nakano,2 Noriko Sakaida,3
Yoshiko Uemura3 and Airo Tsubura1
Departments of 1Pathology, 2Pediatrics and 3Clinical Sciences and Laboratory Medicine, Kansai Medical University,
Osaka, Japan

A case of malignant rhabdoid tumor (MRT) occurring as a

primary hepatic neoplasm in a 12-month-old Japanese
female infant is presented. The patient had a slight fever for
2 weeks and presented with a palpable mass in her left
hypochondrial region. After admission, the hepatic artery
was embolized due to intra-abdominal hemorrhage arising
from the tumor. The patient received chemotherapy with
cisplatin, cyclophosphamide and adriacin. Despite treatment, the patient developed dyspnea, pancytopenia and
disseminated intravascular coagulation. Rupture of the
tumor resulted in death within 3 weeks. A limited abdominal
autopsy revealed that the liver weighed 1240 g and was
occupied by multiple hemorrhagic and/or necrotic tumor
nodules. Histologically, neoplastic cells had an abundant
eosinophilic cytoplasm containing paranuclear inclusions,
and vesicular nuclei with a centrally located prominent
nucleolus. Ultrastructurally, the cytoplasmic inclusions
were composed of whorled filaments measuring 10 nm.
Immunohistochemically, almost all of the neoplastic cells
were positive for vimentin and cytokeratins (CK) 8 and 18,
some were positive for CK 7 and 19, while none were positive for CK 1, 10, 1317 and 20. The tumor cells did not
express desmin, myoglobin, and a-fetoprotein. We found 18
cases of MRT of the liver published in English language
literature and then, adding the present case, we summarized the 19 cases. Hepatic MRT is an uncommon neoplasm.
However, it should be considered in the differential diagnosis of an aggressive liver neoplasm in childhood.

renal organs. In 1982 the first infant with a primary liver

neoplasm having cytological and ultrastructural features of
MRT was described.2 Malignant rhabdoid tumor has now
been accepted as a distinctive clinicopathological entity.3
Although many cases have been described as occurring in
various organs, only 18 cases arising as primary hepatic
neoplasms have been fully reported in English language
literature.
Renal and extrarenal MRT is characterized by the presence of rhabdoid cells; rhabdoid cells resemble rhabdomyoblasts, and this is the basis for the term rhabdoid tumor.
Rhabdoid cells are distinctive since they have eosinophilic
perinuclear inclusion bodies, which are comprised of whorls
of intermediate filaments.4 The most consistently positive
reactions for these intermediate filaments are with antibodies
to vimentin and cytokeratins (CK). The CK is a complex family
of fibrous proteins and is divided into at least 20 subclasses
depending on molecular weight and isoelectric point.6,7 However, only a few detailed analyses associated with the immunophenotypic differentiation of CK expression in MRT cases
has been conducted.810 Here, we report a case of MRT
arising in the liver, and present the histological, ultrastructural
and immunohistochemical findings. In addition, the relevant
literature was reviewed.
CLINICAL SUMMARY

Key words: cytokeratin, immunohistochemistry, liver, malignant

rhabdoid tumor, ultrastructure, vimentin

Malignant rhabdoid tumor (MRT) is a rare and aggressive

childhood neoplasm, first described as an aggressive variant
of Wilms tumor by Beckwith and Palmer in 1978.1 Since then,
identical tumors have been described in a variety of extra-

Correspondence: Airo Tsubura, MD, Department of Pathology, Kansai Medical University, Moriguchi, Osaka 570-8506, Japan.
Email: tsubura@takii.kmu.ac.jp
Received 4 March 2004. Accepted for publication 4 April 2004.

A 12-month-old female infant presented with a palpable mass

in her left hypochondrial region. She had a 2 week history of
slight fever. On admission, computed tomography revealed
multiple liver tumors with metastatic foci in both lungs. No
involvement of her other organs, particularly the kidneys, was
seen. Bloody ascites was noted, and the peripheral blood
examination revealed anemia with a hemoglobin level of
5.7 g/dL. Liver function tests showed elevated transaminases
(aspartate aminotransferase, 79 U/L; alanine aminotransferase, 27 U/L), alkaline phosphatase (730 U/L), lactate
dehydrogenase (1278 U/L) and total bilirubin (1.8 mg/dL).

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T. Yuri et al.

The serum tumor marker a-fetoprotein was elevated

(1208 ng/mL), but was lower than that seen typically with
hepatoblastoma. The b-human chorionic gonadotropin level
was normal. Peripheral blood karyotyping showed a normal
46XX. After hospitalization, a biopsy was performed and the
initial pathological diagnosis was hepatoblastoma. However,
subsequent pathological review suggested that the diagnosis
should be MRT of the liver. The diagnosis of a liver MRT is
a difficult one to make, especially with only a limited biopsy
specimen. Due to intra-abdominal hemorrhage, thought to be
secondary to tumor necrosis, embolization of the hepatic
artery was performed and chemotherapy was started with a
combination of cisplatin, cyclophosphamide and adriacin.
During the chemotherapy course, the patient developed
abdominal swelling causing dyspnea, pancytopenia and disseminated intravascular coagulation (DIC). Bloody ascites
was drained by abdominocentesis. Despite blood transfusion
and anti-DIC treatment, the patient died as a result of massive intra-abdominal hemorrhage due to tumor rupture
3 weeks after admission. A limited abdominal autopsy was
performed.

PATHOLOGICAL FINDINGS
Gross features
At autopsy, the patient weighed 8.0 kg and her height was
75.7 cm. The liver weighed 1240 g, and on the cut surface
about 70% was occupied by multiple tumor nodules, the
largest nodule of which was 10 cm in diameter (Fig. 1).
Rupture was seen in the nodules located in liver segments
2 and 3, and hematoma surrounded the liver surface. The
tumor margins were ill-defined and lacked encapsulation.
Nodules were variegated in appearance with most areas
composed of hemorrhage and/or necrosis forming a
pseudocystic appearance, with some whitish solid areas.
Karyotyping was not available from the fresh liver specimen
taken at autopsy.

Microscopic features
Part of the autopsy liver was fixed in 10% neutral-buffered
formalin and processed in paraffin. Sections were stained
with hematoxylin and eosin (HE), periodic acidSchiff (PAS),
and PAS after diastase digestion. Microscopic examination
revealed neoplastic cells located at the periphery interspersed with normal hepatocytes, and non-neoplastic hepatocytes entrapped in the tumor, either as isolated cells or
arranged in small clusters (Fig. 2a). However, in the central
part of the tumor, neoplastic cells growing along the preexisting sinusoid were obscure, and a remnant of hepato-

cytes was not seen. The neoplastic cells were round or polygonal, loosely cohesive, and were seen within a fibromyxoid
stroma (Fig. 2b). Neoplastic cells contained abundant eosinophilic inclusions, which caused the nuclei to be located in
eccentric locations, giving the characteristic rhabdoid
appearance. The neoplastic cells had large, vesicular nuclei
with one large nucleolus, and mitosis was occasionally seen.
The cytoplasm stained positive with PAS and was digested
after diastase. Necrotic foci were interspersed within the neoplastic mass.

Ultrastructural features
Part of the autopsy liver was fixed in Karnovskys solution,
postfixed in osmium tetroxide, and embedded in Luveak-812
as preparation for electron microscopy. On electron microscopy, the plump cytoplasm of neoplastic cells contained
organelles, such as rough endoplasmic reticulum, round or
oval mitochondria, Golgi apparatus and moderate amounts
of glycogen granules (Fig. 3a). The extracellular matrix was
composed of collagen bundles, while the basal lamina was
not seen. The most striking finding was the expansion of
cytoplasm by the focal accumulation of paranuclear filaments
admixed with cytoplasmic organelles that corresponded to
the eosinophilic inclusions seen on light microscopy. Whorls
of approximately 10 nm filaments trapped groups of mitochondria, rough endoplasmic reticulum and lipid droplets
(Fig. 3b). However, neither striations, neurosecretory granules nor Weibel-Palade bodies could be identified, and junctional specializations were not obvious.

Immunohistochemical features
Immunohistochemistry was performed by the labeled streptavidinbiotin method using a panel of antibodies. The antibodies used and the immunohistochemical results are listed in
Table 1. The antivimentin antibody labeled the cytoplasms of
almost all neoplastic cells, including the cells with rhabdoid
features (Fig. 4a). Strong and diffuse cytoplasmic positivity
was seen. Almost all the neoplastic cells demonstrated diffuse cytoplasmic staining for CK 8 and 18 (Fig. 4b,c), while
CK 7 (Fig. 4d) and 19 were detected in only some neoplastic
cells. The tumor cells completely lacked CK 1, 10, 1317 and
20 expression. Desmin, myoglobin, a-fetoprotein, factor VIIIrelated antigen, CD34 and estrogen receptor (ER) a were
invariably negative. Tenascin-positive staining was seen to
surround clusters of non-tumorous hepatocytes, whereas the
fibromyxoid stroma surrounding neoplastic cells was invariably negative for tenascin. Ki-67 and proliferating cell
nucluear antigen (PCNA) labeling were seen in approximately 1015% of neoplastic cells.

Malignant rhabdoid liver tumor

625

Figure 1 Cut surface of the liver at autopsy. Multiple tumor nodules

showing hemorrhage and/or necrosis with ill-defined infiltrative margins are shown. Some whitish solid areas (arrows) were preserved
within the tumor.

Figure 2 Malignant rhabdoid tumor. (a) Neoplastic cells are interspersed with normal hepatocytes at the periphery of tumor foci. (b) Nests
of loosely cohesive malignant cells show eccentric nuclei with prominent nucleoli, and abundant cytoplasm containing perinuclear inclusions
(HE).

Figure 4 Vimentin and cytokeratin

(CK) expressions in malignant rhabdoid tumor. (a) Vimentin, (b) CK8 and
(c) CK18 are expressed in almost all
of the tumor cytoplasm, while (d) CK7
expression is seen in only some neoplastic cells.

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T. Yuri et al.

Figure 3 Electron microscopy of malignant rhabdoid tumor. (a) Paranuclear aggregation of intermediate filaments pushes the nucleus
laterally. (b) Intermediate filaments 10 nm in diameter trap mitochondria, rough endoplasmic reticulum and a lipid droplet. Bar, 1 mm.

Table 1

Antibodies used and immunohistochemical results of the present case with malignant rhabdoid tumor of the liver

Antigen
Vimentin
Cytokeratin 1
Cytokeratin 7
Cytokeratin 8
Cytokeratin 10
Cytokeratin 13
Cytokeratin 14
Cytokeratin 15
Cytokeratin 16
Cytokeratin 17
Cytokeratin 18
Cytokeratin 19
Cytokeratin 20
Desmin
Myoglobin
a-Fetoprotein
Factor VIII-related antigen
CD34
Estrogen receptor
Tenascin
Ki-67
PCNA

Clone

Dilution

Pretreatment

Source

Positive cells

V9
34b34
OV-TL
35bH11
DEK11
KS-1A3
LL002
LHK15
LL025
E3
DC-10
b170
Ks20.8
M724
Polyclonal
Polyclonal
Polyclonal
NU-4A1
6F11
8C9
MIB-1
PC-10

1:1000
1:20
1:50
1:25
1:50
1:250
1:20
1:40
1:40
1:20
1:25
1:100
1:25
1:50
1:1000
1:200
1:500
Prediluted
1:50
1:500
1:50
1:100

MW
MW
MW
MW
MW
MW
MW
MW
MW
MW
MW
Pronase digestion
MW
Pronase digestion
()
()
()
()
MW
Pronase digestion
MW
MW

Dako Cytomation A/S, Glostrup, Denmark

Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Dako Cytomation A/S, Glostrup, Denmark
Dako Cytomation A/S, Glostrup, Denmark
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Novocastra, Newcastle upon Tyne, UK
Dako Cytomation A/S, Glostrup, Denmark
Dako Cytomation A/S, Glostrup, Denmark
Dako Cytomation A/S, Glostrup, Denmark
Dako Cytomation A/S, Glostrup, Denmark
Dako Cytomation A/S, Glostrup, Denmark
Nichirei, Tokyo, Japan
Novocastra, Newcastle upon Tyne, UK
Riken, Tsukuba, Japan
Novocastra, Newcastle upon Tyne, UK
Dako Cytomation A/S, Glostrup, Denmark

Almost all

Some
Almost all

Almost all
Some

1015%
1015%

MW, microwave retrieval in 0.01 mol/L citrate buffer using a high pressure cooker; PCNA, proliferating cell nuclear antigen.

DISCUSSION
Malignant rhabdoid tumor is an aggressive neoplasm with
a poor prognosis. In the present case, the patient died due
to tumor rupture 3 weeks after the abdominal mass was

first diagnosed. Spontaneous rupture of a liver MRT was

reported in two previous cases.11,12 The neoplastic cells
were composed of non-cohesive round or polygonal
cells. The vesicular nucleus usually possessed one prominent centrally located nucleolus, and the presence of

Malignant rhabdoid liver tumor

Table 2

Malignant rhabdoid tumor of the kidney occurs most

commonly in infants (mean age 16.8 months; range 0
106 months), predominates in males (male : female ratio,
1.5:1), and is associated with an 80% mortality rate. In
patients with kidney MRT death usually occurs within
1 year.3 An English language literature review to find cases
with fully described clinical and microscopic findings consistent with liver MRT yielded 18 cases. Thus, adding our
present case, 19 cases were summarized (Table 2). It was
found that the median age at diagnosis of liver MRT was
16.7 months, 89% (17/19) of patients were under 2 years
of age, and the male : female ratio was 10:9 (Fig. 5). Thus,
nearly all cases occurred in the first 2 years of life, and
there was no gender difference. Patients with liver MRT,

12

Male Female
(n = 10) (n = 9)

9
No. cases

intracytoplasmic filament aggregates was seen in many

but not all cells. Ultrastructurally, prominent aggregates of
approximately 10 nm filaments characteristically formed
whorl structures. The morphological and ultrastructural
results were consistent with those previously described in
MRT.13 In contrast, the actual immunohistochemical profiles
of the CK in MRT remain controversial due to conflicting
results. The expression of the various CK subtypes was
investigated in the present study. We found constant expression of CK 8 and 18, and limited expression of CK 7 and 19,
while CK 1, 10, 1317 and 20 were negative. In some
reports, the MRT diffusely expressed CK 8 and 18, with
limited expression of CK 7, 13, 17 and 19, and no expression of CK 37, 10, 12, 14, 16, 17 and 20.10,14 However,
based on other reports,8,9 MRT seems to coexpress CK 7, 8,
18 and 19 in many cases.
Hepatoblastoma and hepatocellular carcinoma account for
most childhood malignant hepatic tumors. The differential
diagnosis depends on the patients age, although hepatoblastoma is the most likely diagnosis of a malignant hepatic
tumor in children. Small biopsy samples might lead to
confusion with hepatoblastoma.5 However, MRT should be
included in the differential diagnosis when a-fetoprotein
levels are low. A rhabdoid cell is characterized by its resemblance to skeletal muscle cells. However, the presence of CK
and the absence of markers of muscular differentiation, such
as desmin and myoglobin, and the lack of striation exclude
such a derivation. Absence of endothelial markers (factor
VIII-related antigen and CD34) and lack of Weibel-Palade
bodies may exclude epithelioid hemangioendothelioma.
Thus, the cellular origin of MRT remains undetermined as
there is no known specific cell of origin for MRT, although it
appears that diverse cell types may develop into MRT.15

627

0
<1

12

Age at diagnosis (years)

Figure 5 Age distribution and male/female ratios in patients with
malignant rhabdoid tumor of the liver. ( ), 03 months; ( ), 3
6 months; ( ), 69 months; ( ), 912 months; ( ), 1218 months;
( ), 1824 months.

Summary of case reports of malignant rhabdoid tumor of the liver

Case
no.

Age at
diagnosis/Sex

Treatment

Metastasis

Outcome

1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19

12 months/M
9 months/F
3 months/M
6 months/F
5 months/F
8 months/M
5 years/F
16 months/F
3 months/M
8 months/F
13 months/F
11 months/M
3 months/M
7 years/M
2 months/M
17 months/M
13 months/F
21 months/M
12 months/F

Chemotherapy (Act-D)
Chemotherapy (DXR, VP-16)
Chemotherapy (DXR, CDDP, VCR, 5-FU)
Hepatectomy + chemotherapy (CDDP, VP-16)
Hepatectomy + chemotherapy (CDDP, VCR)
Hepatectomy + chemotherapy (IFO, VCR, Act-D)
Chemotherapy (DXR, VCR, CPA, 5-FU)
Chemotherapy (CBDCA)
Chemotherapy
No treatment
Hepatectomy + chemotherapy
Chemotherapy
Hepatectomy + chemotherapy (CBDCA, EPI)
Hepatectomy + chemotherapy (CDDP, VCR, EPI)
Chemotherapy
Hepatectomy + chemotherapy (CBDCA, VP-16)
Hepatectomy + chemotherapy
Chemotherapy (CDDP, VCR, DXR, CPA)
Chemotherapy (VP-16, CPA, EPI, CDDP)

Lung, omentum
Retroperitoneum
Lung
Lymph node
Lung
Lung
Paraaortic
Lymph node
ND
Lung
()
Lung
Bone marrow
Lung
Hernia sac
Lung
Lymph node
Lymph node
Lung

DOD
DOD
DOD
DOD
DOD
DOD
DOD
DOD
DOD
DOD
Alive
DOD
DOD
DOD
DOD
DOD
Alive
DOD
DOD

Survival or
follow-up time
1 week
2 weeks
2 months
3 months
5 months
15 months
4 months
2 months
5 days
ND
>6 months
2 months
4 months
22 days
6 weeks
11 months
>6 years
9 months
22 days

Reference
2
16
16
17
8
18
19
9
5
5
5
5
11
20
21
22
12
23
Present case

5-FU, 5-fluorouracil; Act-D, actinomycin D; CBDCA, carboplatin; CDDP, cisplatin; CPA, cyclophosphamide; DOD, died of disease; DXR, doxorubicin;
EPI, epirubicin; F, female; M, male; ND, not described; VCR, vincristin; VP-16, etoposide.

628

T. Yuri et al.

like those with kidney MRT, have a very poor prognosis.

Although one report showed a 6 year survival,12 the outcome of the other published cases including the present
case was uniformly fatal, despite aggressive treatment. The
overall mortality rate was 89% (17/19), with a mean survival of 15.3 weeks. In the present case, high Ki-67 and
PCNA labeling might indicate the aggressive nature of the
tumor. In the present case, although ERa expression was
not seen, of the six MRT cell lines examined, ERa expression was seen in three cell lines, and the cytotoxic effects
of the estrogen antagonist (tamoxifen) on the MRT cells
were seen in vitro.24
In MRT of the kidney, soft tissue, brain and liver, a specific
gene deletion at chromosome band 22q11.2 is common.21 In
MRT of the kidney, the deletion of this locus is seen in 80%
(24/30) of cases.25 The gene located in this locus is the INI1
gene and is responsible for both renal and extrarenal
MRT.26,27 Thus, regardless of the site, both renal and extrarenal MRT have a common molecular cause.25,27,28 In addition
to the morphological, ultrastructural and immunohistochemical profiles, genetic studies such as cytogenetics, fluorescence in situ hybridization and molecular genetic analysis of
tumor specimens, if available, may help confirm the diagnosis
of MRT.

10

11

12

13

14

15

16

ACKNOWLEDGMENTS
17

The authors thank Ms T. Akamatsu for her excellent technical

assistance in tissue preparation and immunohistochemistry,
and Ms Y. Yoshida for preparing the manuscript.

18
19

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