Pediatr Blood Cancer 2011;57:423428

Rhabdoid Tumors of the Liver: Rare, Aggressive, and Poorly

Responsive to Standard Cytotoxic Chemotherapy
Angela D. Trobaugh-Lotrario, MD,1* Milton J. Finegold, MD,2 and James H. Feusner,
Background. Rhabdoid tumors of the liver are rare tumors that
are difcult to cure. We compiled all the cases previously reported in
the literature to review clinical data, treatments, and outcomes.
Procedure. Patients were identied by literature review using
PubMed. Results. Thirty-four patients were identied. The median
age at presentation was 8 months. All patients with reported AFP
results exhibited normal or minimally increased serum AFP levels.
All 10 tumors with reported INI1 immunohistochemistry results were
reported as negative. Twenty-one patients presented with metastatic
disease at diagnosis. Thirty patients died of disease or treatment
complications. Most deaths occurred within 12 months after
diagnosis. Five patients survived at the time of the reports with one
patient alive with disease. One patient relapsed and subsequently

Key words:

MD

died after the report was published. Of the four patients alive without
disease, all were treated with chemotherapy, and at least three had
surgery or transplantation. Two patients received radiation therapy
but did not survive. Conclusions. Rhabdoid tumors of the liver are
aggressive, rare tumors of the infant liver that are often associated
with metastases at the time of diagnosis. Mortality is high and often
occurs soon after diagnosis. Treatment with aggressive chemotherapy in combination (especially an alkylating agents doxorubicin)
with complete resection may lead to improved outcomes. Therapy
targeted to the INI1 mutation of these tumors is currently being
investigated and may offer greater hope of cure. Pediatr Blood
Cancer 2011;56:423428. 2010 Wiley-Liss, Inc.

liver; pediatric; rhabdoid tumor

INTRODUCTION
Rhabdoid tumors in children are rare, aggressive tumors that
have been reported most commonly in the central nervous system
and kidneys, but can also occur in other organs. In general, the
diagnosis of rhabdoid tumor appears to confer a poor prognosis, but
little has been reported regarding those tumors which are primary
in the liver. Therefore, we undertook an investigation of all the
published reports of malignant rhabdoid tumor of the liver in
children.

PROCEDURE
The medical literature was searched using PubMed from 1970 to
2010 for reports of pediatric patients with rhabdoid tumors of the
liver. The search terms used included: children, pediatric, rhabdoid,
malignant rhabdoid tumor, liver, and hepatic. We abstracted
information only from articles written in English. In addition, we
performed searches of the bibliographies of identied articles. We
accepted as cases all those in which the authors stated the histology
of the tumor was rhabdoid. One of the authors (MF) was able to
review the histologic and/or ultrastructural features illustrated for 28
of the tumors to conrm them as rhabdoid. Rhabdoid tumors are
cytologically discohesive with round cells with large, irregularly
shaped, and eccentrically placed nuclei in abundant eosinophilic
cytoplasm containing bundles of intermediate laments that are
both cytokeratin- and vimentin-positive. Nuclei are often clear with
prominent nucleoli and sharply dened nuclear membranes.

RESULTS

marrow, hepatic artery, CNS, inferior vena cava, right atrium,

omentum, and skin. Five patients had multiple metastatic sites.
No cases warranted exclusion due to descriptions in the text
and/or gure presentation of the case appearing very atypical for
rhabdoid. Ten of the tumors had immunohistochemical evaluation
of INI (BAF-47), and all were typical of rhabdoid tumors in having
no nuclear expression.
The most commonly reported presenting symptoms in the
29 patients with data were fever in 13 patients, anorexia/vomiting in
5, and lethargy/malaise in 4. The most frequently reported signs
were a mass (14), abdominal distention (7) or hepatomegaly (4).
Of particular note is that of 29 patients with symptoms reported,
22 presented with systemic signs and/or symptoms. Spontaneous
tumor rupture occurred in ve patients.
Common laboratory abnormalities at the time of diagnosis in the
24 cases with reported lab data included anemia (12), thrombocytosis (6), increased liver enzyme levels (7), and elevation of lactate
dehydrogenase (11). Two patients were reported to have signicant
hypercalcemia, and one patient who presented with chronic diarrhea
had an elevated vasointestinal peptide level. Various treatment
regimens were reported and included the agents actinomycin,
carboplatin, cisplatin, cyclophosphamide, doxorubicin, epirubicin,
etoposide, 5-uorouracil, ifosfamide, melphalan, methotrexate,
and vincristine. The most commonly used were doxorubicin
(16 patients), vincristine (14), etoposide (14), cisplatin (12),
carboplatin (11), and ifosfamide (10). Of the 31 cases with therapy
details given, only 3 patients were not treated, and none of these
3 survived. Two patients received radiation therapy but did

Our literature review identied 34 cases of rhabdoid tumor of the

liver, abstracted from 25 separate publications. Demographics are
shown in Table I [125]. Patients ranged in age from birth to
15 years (median 8 months). There were 20 males and 14 females.
Two patients (patients 5 and 8) were born prematurely at 33 weeks
gestation. Twenty-one patients presented with metastatic disease
at diagnosis. Sites of metastases were lung (16), pleural effusions
(2), lymph node (3mesenteric in patient # 14, porta hepatis in
patient # 29, hilar in patient # 31), and one report each of bone

2010 Wiley-Liss, Inc.

DOI 10.1002/pbc.22857
Published online 6 November 2010 in Wiley Online Library
(wileyonlinelibrary.com).

Sacred Heart Childrens Hospital, Spokane, Washington; 2Texas

Childrens Hospital, Baylor College of Medicine, Houston, Texas;
3
Childrens Hospital & Research Center Oakland, Oakland, California
Conict of interest: Nothing to report.
*Correspondence to: Angela D. Trobaugh-Lotrario, Department of
Pediatric Hematology/Oncology, Sacred Heart Childrens Hospital,
101 West 8th Avenue, Spokane, WA 99204.
E-mail: angela.trobaugh@providence.org
Received 20 August 2010; Accepted 8 September 2010

Pediatr Blood Cancer DOI 10.1002/pbc

3 months

3 months

3 months

3 months

3 months
3 months

4 months
5 months

6 months

6 months

7 months

10
11

12
13

14

15

16

0 months

36 months

Fatalities
5

13 months

Survivors
1

12 months

6 months

Pt

Age at
diagnosis

M
F

M
M

Sex

No

Lung

No

Lung
No

No
No

Lung

Pleural
effusions
Bone
marrow
Lung

Skin

No

LN (porta
hepatis)

IVC, RA,
lung

No

Metastatic
disease

TABLE I. Patient Characteristics

NR

NR

NR

NR
Nl

NR
Nl

14

13,381

Nl

NR

Nl

Nl

Nl

NR

NR

AFP
(ng/ml)

NR

NR

NR

NR
NR

Negative
NR

Negative,
noncoding
sequence
mutation
NR

NR

NR

NR

Negative

Negative;
homozygous
deletion
NR

Negative

INI1
status (nuclear
stain)

Complete resection
with microscopic
residual

ICE  3 courses,
low-dose
methotrexate

None

Gross total resection

with positive
margins
Unresectable

NR
Biopsy only;
spontaneous
rupture
Biopsy only
Complete resection

Biopsy only

Resection
post-rupture
Attempted resection,
but peritoneal
implants

Resection

None

Cisplatin, etoposide,
and doxorubicin

C5VD  1 course
Cisplatin and VCR

NR
Chemotherapy

C5VD

Carboplatin, VCR,
and epirubicin
Carboplatin, cisplatin,
and doxorubicin

Chemotherapy

None

ICE and VAdriaC

Partial resection
of RA component

VAdriaC  5 cycles,
ifos/
etoposide  7 months
Ifosfamide, VCR, and
actinomycin 
6 courses
Gross total resection,
but with rupture
found at time
of surgery
Transplantation

NR

Resection

Chemotherapy

Treatment

No response

Progressive disease

Progressive disease

No response
Relapse in liver

NR
NR

Progressive disease

Initial response
in metastases
(cis/doxo)

Partial response, then

progressive disease
Progressive disease

NR

Partial response to
chemotherapy

Complete response

Complete response

NR

Response

DOD 0.4 months

post-diagnosis
DOD at 5 months

DOD at 1 month
DOD at 5 months
post-diagnosis
DOD 7 weeks
post-diagnosis

Died 2 months
post-diagnosis
Died at 1 month
Died 5 days from
diagnosis

Died of hemorrhage
at 4 days
post-diagnosis
DOD 8 months
post-diagnosis
DOD at 4 months
post-diagnosis
DOD at 3 months
post-diagnosis

NED 3 years
post-transplant

NED at 6 years
post-resection

NED at 26 months
from diagnosis

Alive at 17 months

Outcome

[11]

[14]

[13]

[11]
[12]

[1]
[4]

[10]

[9]

[8]

[7]

[6]

[5]; personal
comm. with Jasty

[3,4]

[1]; personal
comm. with
Garces-Inigo
and McHugh
[2]; personal
comm. with
Chow

Refs.

424
Trobaugh-Lotrario et al.

7 months
8 months

8 months

8 months

9 months

10 months

10 months

11 months

12 months

12 months

16 months

17 months

17 months

18 months

21 months

60 months

17
18

19

20

21

22

23

Pediatr Blood Cancer DOI 10.1002/pbc

24

25

26

27

28

29

30

31

32

M
M

Hepatic
artery,
along
porta
hepatic

Lung, LN

Lung

No

Lungs,
omentum
Hilar
lymph
nodes
CNS, lung

Lung

Lung

No

Pleural
effusion
Lung

Lung

No

Lung
Lung

NR

20

Nl

Nl

NR

Raised

NR

1,208

Nl

28.7

NR

Nl

Nl

23

NR
Nl

NR

NR

Negative

NR

NR

NR

NR

NR

NR

Negative

NR

NR

NR

Negative

Negative
NR

Chemotherapy and
radiation
VAdriaC  5 cycles,
CTX/carboplatin/
etoposide  5 cycles
C5V, ICE, VAdriaC,
high-dose
chemotherapy
(etoposide/
carboplatin/CTX;
mel/CTX) with
two autologous
transplants
C5VD

ICE

Carboplatin and
doxorubicin

Actinomycin

Cisplatin, CTX,
and doxorubicin

Chemotherapy

Cisplatin, etoposide,
and doxorubicin
Cisplatin, etoposide,
and doxorubicin
VAdriaC and ICE

Unresectable

Unresectable

Biopsy only

Resection of liver
mass and
debulking of
CNS mass
NR

Unresectable

NR

Hepatic artery
embolization

Biopsy only

None

Biopsy and
paracentesis
Biopsy only

Unresectable

Right lobectomy

ICE  10 cycles

None

NR
Resection of
liver mass

NR
Ifosfamide, VCR,
and actinomycin

Progressive disease

Initial response,
then progressive
disease, then
response to ICE,
then progressive
disease
post-transplant

Progressive disease

Progressive disease

Progressive disease
(CNS)

Progressive disease

NR

Tumor rupture

No response

Progressive disease

No response

NR

NR
Initial response,
then recurrent
disease
Recurrent disease
2 months off
therapy
Progressive disease

DOD at 4 months
post-diagnosis

DOD 9 months
post-diagnosis

DOD 6 weeks
post-diagnosis
DOD at 8 months
from diagnosis

Died at 2 months
of upper GI
hemorrhage
DOD 11 months after
diagnosis

DOD 2 months
post-treatment
DOD at 8 weeks
post-diagnosis
Died of hemorrhage
with rupture
3 weeks
post-diagnosis
Died at 1 week

DOD (time not

reported)
Died 14 days
post-diagnosis
DOD at 2 weeks

DOD 6 weeks after

recurrence

Died at 4 months
DOD at >15 months
post-surgery

[23]

[2]; personal
comm. with
Chow
[22]

[21]

[20]

[19]

[18]

[17]

[4]

[16]

[11]

[10]

[4]

[16]

[1]
[15]

Rhabdoid Tumors of the Liver

425

Pediatr Blood Cancer DOI 10.1002/pbc

Pt, patient; AFP, alpha-fetoprotein; F, female; Nl, normal; NR, not reported; Comm., communication; IVC, inferior vena cava; RA, right atrium; VAdriaC, Vincristine/adriamycin/cyclophosphamide;
Ifos, ifosfamide; NED, no evidence of disease; LN, lymph node; VCR, vincristine; M, male; ICE, ifosfamide/carboplatin/etoposide; DOD, died of disease; C5VD, cisplatin/5-uorouracil/vincristine/
doxorubicin; CTX, cyclophosphamide; GI, gastrointestinal; CNS, central nervous system; C5V, cisplatin/5-uorouracil/vincristine; Mel, melphalan.

[25]
Recurrent disease
180
months
34

No

NR

Negative

Ifosfamide, VCR,
actinomycin  6
cycles; doxorubicin,
cisplatin; radiation;
and etoposide

Left hepatectomy;
spontaneous
rupture

Died of neurologic
deterioration
22 days after
diagnosis
Died at 44 months
of congestive heart
failure after
3rd recurrence
NR
Biopsy only
Carboplatin, VCR,
and epirubicin
NR
Nl
Lung
F
84 months
33

Pt

Age at
diagnosis

TABLE I. (Continued )

Sex

Metastatic
disease

AFP
(ng/ml)

INI1
status (nuclear
stain)

Treatment

Resection

Response

Outcome

[24]

Trobaugh-Lotrario et al.

Refs.

426

not survive. One patient underwent liver transplantation after

chemotherapy and survived.
Only 4 of these 34 patients (patients # 1, 2, 3, and 4) are alive
without evidence of disease at the time of the reports or on followup. Deaths occurred early (range 4 days to 44 months from
diagnosis; median 2 months), with all but two deaths occurring prior
to 12 months from diagnosis. Nineteen patients clearly died of
their liver tumor. Eleven others died presumably still with disease
(range 4 days to 4 months; median 22 days) after diagnosis.
Of those patients with reported details regarding the death, three
died as a result of hemorrhage, one of neurologic deterioration, and
one of congestive heart failure.
The four patients alive without evidence of disease were older at
diagnosis (ages 6 months, 12 months, 13 months, and 3 years) as
compared with the patients who did not survive (range birth to
15 years; median 8 months) (Table I). Patients 1 and 4 had localized
disease, patient 3 had regional lymph node metastasis only (porta
hepatis), and patient 2 presented with multiple metastases (lungs,
inferior vena cava, and right atrium). Patient 2 had a partial resection
of the right atrial mass after chemotherapy that included vincristine,
doxorubicin, cyclophosphamide, etoposide, and ifosfamide. One of
the survivors (patient # 4) underwent liver transplantation after
ifosfamide, carboplatin, etoposide, vincristine, doxorubicin, and
cyclophosphamide. One patient (patient # 3) survived in spite of
tumor rupture at the time of surgery.

CONCLUSIONS
Rhabdoid tumors of the liver are rare, aggressive tumors that are
difcult to treat. This review constitutes the largest collection of
such cases yet reported. The INI1 status was reported in only
10 cases, and we did not attempt a central pathology review, so it
could well be that some of the other cases in this report are not in fact
true rhabdoid tumors, especially the three with elevation of AFP at
diagnosis. In spite of this, this compilation of cases represents the
total body of published information available on this subject and we
feel is of use in trying to improve our understanding of this rare but
highly lethal tumor.
Presenting symptoms and laboratory values can be helpful in
establishing the diagnosis of a patient presenting with a liver mass.
The differential diagnosis of a malignant mass in the liver in a
pediatric patient includes hepatoblastoma (HB), hepatocellular
carcinoma (HCC), rhabdoid tumor of the liver, cholangiocarcinoma,
and various sarcomas (angiosarcoma, undifferentiated or embryonal sarcoma, rhabdomyosarcoma).
Most patients with rhabdoid tumors of the liver present in
infancy with hepatomegaly, abdominal distention, or an abdominal
mass and have systemic symptoms, including fever, lethargy/
malaise, and anorexia/vomiting. Of potential signicance, 17%
(5/29 with data) of these patients presented with spontaneous
rupture of their tumor, which is denitely more frequent than has
been reported for HB or HCC in this age group.
The major tumor to differentiate from these rhabdoid tumors in
this age group (infants and toddlers) is HB. Children with HB share
some of the clinical features described above for rhabdoid tumor
of the liver (male predominance, thrombocytosis, anemia, and only
moderate derangement of overall liver function). However, they
are distinct in being somewhat older at diagnosis (16 months median
vs. 8 months) [26,27], less frequently present with systemic signs
or symptoms, a lesser incidence of spontaneous tumor rupture, and

Rhabdoid Tumors of the Liver

especially in having a signicantly elevated AFP at diagnosis over
90% of the time.
For younger patients with liver tumors but without an elevated
AFP at diagnosis, detailed cytogenetic, immunohistochemical and/
or molecular analysis INI1 (BAF-47) should be conducted. A recent
report by Trobaugh-Lotrario et al. found that six of six patients with
HB of small cell undifferentiated histology who were tested for the
INI1 mutation were negative [28]. Those patients were similar to the
patients presented in this review with low AFP and younger age at
diagnosis (median 8 months compared with 8 months for this
review). In the Trobaugh-Lotrario report, one patient with small cell
undifferentiated HB was found to have a deletion in the 22q12
region, the location of the SMARCB1/INI1 gene by whole genome
comparative genomic hybridization of the INI1 gene locus [28].
Therefore, some of the small cell undifferentiated HBs should be
classied as rhabdoid tumors.
At least 1530% of rhabdoid tumors reported in the literature
have been associated with germline abnormalities involving
chromosome 22q11.2 and specically inactivating mutations in
the SMARCB1 gene [29]. SMARCB1 appears to act as a tumor
suppressor gene, with inactivation of both copies of the gene
resulting in tumor predisposition. Patients with germline mutations
of the SMARCB1 gene tend to develop these rhabdoid tumors
(especially brain, kidney, and soft tissues) within their rst year of
life, and may have multiple primary tumors with a very poor
prognosis [3033].
Outcomes for patients with rhabdoid tumors of the liver are very
poor. In our series, the survivors tended to be older and were more
likely to be female (Table I). Of 4 survivors, 2 presented with
localized disease, whereas only 9 of 30 patients who did not survive
presented with localized disease. Of 11 patients presenting with
localized disease, 2 survived compared to only 2 of the 23 patients
presenting with nonlocalized disease.
For the patients who survived, chemotherapy generally included
vincristine, doxorubicin, cyclophosphamide, and ifosfamide, which
is consistent with typical treatment for non-CNS rhabdoid tumors
and has been used successfully in metastatic rhabdoid tumors [34
36]. Recent reports have studied new potential therapeutic targets in
vitro via targeting tumor suppressor genes associated with
SMARCB1 via angiogenesis inhibition [37] and restoration of
SMARCB1 via histone deacetylase inhibitors [38]. The prospect of
targeted intervention is especially encouraging because of the
potentially harmful long-term consequences of current chemotherapy in very young infants.
In conclusion, rhabdoid tumors of the liver are rare and very
difcult to cure. Presenting features that might be distinctive are
systemic signs or symptoms such as fever, a very elevated LDH, a
normal or near normal AFP level at diagnosis, and perhaps the
occurrence of spontaneous tumor rupture. Given the few patients
cured with rhabdoid tumor of the liver, conclusions regarding
treatment are difcult. It is likely, however, that treatment utilizing
aggressive chemotherapy (such as vincristine, doxorubicin, cyclophosphamide, ifosfamide, and etoposide) in combination with
aggressive surgery appears to be necessary for cure. Radiation has
been used in treatment for very few of these patients. Given the low
number of patients, strong conclusions cannot be drawn. However,
based on its lack of clear benet in patients with these tumors at
other sites, it is unlikely to be of particular benet for children with
rhabdoid tumors in the liver, with the possible exception of cases
with microscopic residual disease involving small amounts of the
Pediatr Blood Cancer DOI 10.1002/pbc

427

liver. Given the toxicity to the liver, its use in rhabdoid tumors of the
liver is likely to be limited to rare cases with small lesions that are
unresectable due to proximity to blood vessels.
Children that present with this tumor should be enrolled on
biology and therapy treatment trials, so to best advance our
understanding of the pathogenesis of this tumor.

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