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Pathology International 2004; 54: 623–629

.

Correspondence: Airo Tsubura, MD, Department of Pathology, Kan-

sai Medical University, Moriguchi, Osaka 570-8506, Japan.

Email: [email protected]

Received 4 March 2004. Accepted for publication 4 April 2004.

Case Report

Malignant rhabdoid tumor of the liver: Case report andliterature review

Takashi Yuri,

1

Naoyuki Danbara,

1

Nobuaki Shikata,

1

Sachiko Fujimoto,

2

Takahide Nakano,

2

Noriko Sakaida,

3

Yoshiko Uemura

3

and Airo Tsubura

1

Departments of 1

Pathology, 2

Pediatrics and 3

Clinical 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 treat-

ment, 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 pos-

itive for CK 1, 10, 13–17 and 20. The tumor cells did not

express desmin, myoglobin, and aaaa

-fetoprotein. We found 18

cases of MRT of the liver published in English language

literature and then, adding the present case, we summa-

rized the 19 cases. Hepatic MRT is an uncommon neoplasm.

However, it should be considered in the differential diagno-

sis of an aggressive liver neoplasm in childhood.

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-

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 pres-

ence of ‘rhabdoid’ cells; rhabdoid cells resemble rhabdo-

myoblasts, 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 familyof fibrous proteins and is divided into at least 20 subclasses

depending on molecular weight and isoelectric point.

6,7

How-

ever, only a few detailed analyses associated with the immu-

nophenotypic differentiation of CK expression in MRT cases

has been conducted.

8–10

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

A 12-month-old female infant presented with a palpable massin 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 aminotrans-

ferase, 27 U/L), alkaline phosphatase (730 U/L), lactate

dehydrogenase (1278 U/L) and total bilirubin (1.8 mg/dL).



624 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 diagnosisshould 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 dis-

seminated intravascular coagulation (DIC). Bloody ascites

was drained by abdominocentesis. Despite blood transfusion

and anti-DIC treatment, the patient died as a result of mas-

sive intra-abdominal hemorrhage due to tumor rupture3 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 acid–Schiff (PAS),

and PAS after diastase digestion. Microscopic examination

revealed neoplastic cells located at the periphery inter-

spersed with normal hepatocytes, and non-neoplastic hepa-

tocytes 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 pre-

existing sinusoid were obscure, and a remnant of hepato-

cytes was not seen. The neoplastic cells were round or poly-

gonal, loosely cohesive, and were seen within a fibromyxoid

stroma (Fig. 2b). Neoplastic cells contained abundant eosi-

nophilic 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 neo-

plastic mass.

Ultrastructural features

Part of the autopsy liver was fixed in Karnovsky’s solution,

postfixed in osmium tetroxide, and embedded in Luveak-812

as preparation for electron microscopy. On electron micros-

copy, the plump cytoplasm of neoplastic cells contained

organelles, such as rough endoplasmic reticulum, round oroval 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 mito-

chondria, rough endoplasmic reticulum and lipid droplets

(Fig. 3b). However, neither striations, neurosecretory gran-

ules nor Weibel-Palade bodies could be identified, and junc-

tional specializations were not obvious.

Immunohistochemical features

Immunohistochemistry was performed by the labeled strepta-

vidin–biotin method using a panel of antibodies. The antibod-

ies 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 dif-

fuse cytoplasmic staining for CK 8 and 18 (Fig. 4b,c), whileCK 7 (Fig. 4d) and 19 were detected in only some neoplastic

cells. The tumor cells completely lacked CK 1, 10, 13–17 and

20 expression. Desmin, myoglobin, a

-fetoprotein, factor VIII-

related 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 invari-

ably negative for tenascin. Ki-67 and proliferating cell

nucluear antigen (PCNA) labeling were seen in approxi-

mately 10–15% of neoplastic cells.



Malignant rhabdoid liver tumor 625

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 rhab-

doid 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 neo-

plastic cells.

Figure 1

Cut surface of the liver at autopsy. Multiple tumor nodules

showing hemorrhage and/or necrosis with ill-defined infiltrative mar-

gins are shown. Some whitish solid areas (arrows) were preserved

within the tumor.



626 T. Yuri et al

.

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 pro-

minent centrally located nucleolus, and the presence of

Table 1

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

Antigen Clone Dilution Pretreatment Source Positive cells

Vimentin V9 1:1000 MW Dako Cytomation A/S, Glostrup, Denmark Almost all

Cytokeratin 1 34

b

34 1:20 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 7 OV-TL 1:50 MW Novocastra, Newcastle upon Tyne, UK SomeCytokeratin 8 35

b

H11 1:25 MW Dako Cytomation A/S, Glostrup, Denmark Almost allCytokeratin 10 DEK11 1:50 MW Dako Cytomation A/S, Glostrup, Denmark –Cytokeratin 13 KS-1A3 1:250 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 14 LL002 1:20 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 15 LHK15 1:40 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 16 LL025 1:40 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 17 E3 1:20 MW Novocastra, Newcastle upon Tyne, UK –Cytokeratin 18 DC-10 1:25 MW Novocastra, Newcastle upon Tyne, UK Almost allCytokeratin 19 b170 1:100 Pronase digestion Novocastra, Newcastle upon Tyne, UK SomeCytokeratin 20 Ks20.8 1:25 MW Dako Cytomation A/S, Glostrup, Denmark –Desmin M724 1:50 Pronase digestion Dako Cytomation A/S, Glostrup, Denmark –Myoglobin Polyclonal 1:1000 (–) Dako Cytomation A/S, Glostrup, Denmark –

a

-Fetoprotein Polyclonal 1:200 (–) Dako Cytomation A/S, Glostrup, Denmark –Factor VIII-related antigen Polyclonal 1:500 (–) Dako Cytomation A/S, Glostrup, Denmark –

CD34 NU-4A1 Prediluted (–) Nichirei, Tokyo, Japan –Estrogen receptor 6F11 1:50 MW Novocastra, Newcastle upon Tyne, UK –Tenascin 8C9 1:500 Pronase digestion Riken, Tsukuba, Japan –Ki-67 MIB-1 1:50 MW Novocastra, Newcastle upon Tyne, UK 10–15%PCNA PC-10 1:100 MW Dako Cytomation A/S, Glostrup, Denmark 10–15%

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

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 m

m.




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 conflictingresults. The expression of the various CK subtypes was

investigated in the present study. We found constant expres-

sion of CK 8 and 18, and limited expression of CK 7 and 19,

while CK 1, 10, 13–17 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 expres-

sion of CK 3–7, 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 patient’s age, although hepato-blastoma 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 resem-

blance 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 asthere is no known specific cell of origin for MRT, although it

appears that diverse cell types may develop into MRT.

15

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 con-sistent 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,

Table 2

Summary of case reports of malignant rhabdoid tumor of the liver

Case

no.

Age at

diagnosis/Sex Treatment Metastasis Outcome

Survival or

fol low-up time Reference

1 12 months/M Chemotherapy (Act-D) Lung, omentum DOD 1 week 22 9 months/F Chemotherapy (DXR, VP-16) Retroperitoneum DOD 2 weeks 163 3 months/M Chemotherapy (DXR, CDDP, VCR, 5-FU) Lung DOD 2 months 164 6 months/F Hepatectomy +

chemotherapy (CDDP, VP-16) Lymph node DOD 3 months 175 5 months/F Hepatectomy +

chemotherapy (CDDP, VCR) Lung DOD 5 months 86 8 months/M Hepatectomy +

chemotherapy (IFO, VCR, Act-D) Lung DOD 15 months 187 5 years/F Chemotherapy (DXR, VCR, CPA, 5-FU) Paraaortic DOD 4 months 198 16 months/F Chemotherapy (CBDCA) Lymph node DOD 2 months 99 3 months/M Chemotherapy ND DOD 5 days 5

10 8 months/F No treatment Lung DOD ND 511 13 months/F Hepatectomy +

chemotherapy (–) Alive

>

6 months 512 11 months/M Chemotherapy Lung DOD 2 months 513 3 months/M Hepatectomy +

chemotherapy (CBDCA, EPI) Bone marrow DOD 4 months 1114 7 years/M Hepatectomy +

chemotherapy (CDDP, VCR, EPI) Lung DOD 22 days 2015 2 months/M Chemotherapy Hernia sac DOD 6 weeks 2116 17 months/M Hepatectomy +

chemotherapy (CBDCA, VP-16) Lung DOD 11 months 2217 13 months/F Hepatectomy +

chemotherapy Lymph node Alive

>

6 years 1218 21 months/M Chemotherapy (CDDP, VCR, DXR, CPA) Lymph node DOD 9 months 2319 12 months/F Chemotherapy (VP-16, CPA, EPI, CDDP) Lung DOD 22 days 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.

Figure 5

Age distribution and male/female ratios in patients with

malignant rhabdoid tumor of the liver. ( ), 0–3 months; ( ), 3–

6 months; ( ), 6–9 months; ( ), 9–12 months; ( ), 12–18 months;

( ), 18–24 months.

12

9

6

3

0< 1 1–2 3 4 5 6 7

Age at diagnosis (years)

Male(n = 10)

Female(n = 9)

N o . c a s e s



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 out-

come 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 sur-

vival of 15.3 weeks. In the present case, high Ki-67 and

PCNA labeling might indicate the aggressive nature of thetumor. In the present case, although ER

a

expression was

not seen, of the six MRT cell lines examined, ER

a

expres-

sion 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 extra-

renal MRT have a common molecular cause.

25,27,28

In additionto the morphological, ultrastructural and immunohistochemi-

cal profiles, genetic studies such as cytogenetics, fluores-

cence in situ

hybridization and molecular genetic analysis of

tumor specimens, if available, may help confirm the diagnosis

of MRT.

ACKNOWLEDGMENTS

The authors thank Ms T. Akamatsu for her excellent technical

assistance in tissue preparation and immunohistochemistry,

and Ms Y. Yoshida for preparing the manuscript.

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