International Journal of Surgery Case Reports 114 (2024) 109007

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International Journal of Surgery Case Reports

journal homepage: www.elsevier.com/locate/ijscr

Case report

Extra-renal rhabdoid tumor in an adult presenting as cervical adenopathy

with spondylodiscitis
L. Douimi, O. Labib *, Y. Oukessou, S. Rouadi, R. Abada, M. Mahtar
Department of Otolaryngology, Head and Neck Surgery, Ibn Rochd University Hospital, Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco

A R T I C L E I N F O A B S T R A C T

Keywords: Introduction and importance: Rhabdoid tumor (RT) is among the most aggressive and lethal types of cancer. It
Extrarenal rhabdoid tumor most commonly arises in the central nervous system, kidney, or soft tissues. It typically affects young children.
Neck Case presentation: We present a case of a 21 years old man with an extrarenal rhabdoid tumor (ERRT) in the neck
Vertebra
extending to the vertebra and epidural space. Clinical presentation was at first misleading as it presented as
Spinal cord compression
infectious spondylodiscitis with cervical adenopathies. The patient developed quadriplegia a few days after bi­
opsy was taken and succumbed to his disease a week later.
Clinical discussion: The diagnosis of MRT is mainly based on histopathology, immunohistochemistry and mo­
lecular studies. Loss of INI1 expression due to biallelic mutation of the SMARCB1 gene is characteristic. Because
of the lack of standardized treatment protocols for MRT, various combinations of chemotherapeutic drugs are
used. However, prognosis remains poor especially for cervical vertebral localization as it results in a rapid fatal
outcome secondary to respiratory failure.
Conclusion: SMARCB1-related biology and potential therapeutic targets are the main focus of preclinical in­
vestigations that aim to expand treatment options and improve patient's survival.

1. Introduction
Rhabdoid tumor (RT) is among the most aggressive and lethal types
of cancer. It most commonly arises in the central nervous system
(referred to as atypical teratoid/RT [AT/RT]), kidney (RT of the kidney
[RTK]), or soft tissues (extrarenal RT, malignant RT [MRT]). Extrarenal
rhabdoid tumor (ERRT) have been reported in almost all soft tissues
including the skin, liver, lung and the neck. It typically affects young
children with a peak incidence between 1 and 4 years of age, even
though authentic adult RTs have been described [1]. Cases of MRTs
invading the cervical vertebra are rather limited. Here we report a case
of a young man presenting an ERRT of the neck invading the vertebra
and causing spinal cord compression.
The work has been reported in line with the SCARE criteria [11].
2. Case presentation
We present a case of a 21 years old man, with no medical history who
presents a 4 months history of left neck swelling and intense pain with
dysphagia to solids, fever and deterioration of general condition.
Physical examination showed a painful swelling in the left side of the
neck with no inflammation or limited mass. The swelling appeared to
protrude in the posterior wall of the oropharynx (Fig. 1). In admission,
he was afebrile with no motor or sensitive deficit but his performance
status (WHO) was at 4. MRI revealed a C2–C3 signal abnormality with
epidural infiltration and spinal cord compression, associated with sig­
nificant infiltration of soft tissue as well as left lateral cervical lymph­
adenopathy (Fig. 2).
Metastatic assessment including computed tomography (CT) of neck,
chest, abdomen, and pelvis showed a magma of adenopathies of the left
territory III measuring 63.5 × 26 mm spread over 50 mm. This magma
produces a mass effect on the oropharynx on the inside and the jugulo-
carotid vessels outside as well as a C2–C3 spondylodiscitis with med­
ullary compression (Fig. 3). Thorax and abdomen were normal. Given
the young age, fever, deterioration of the general state, the presence of
lymphadenopathy and spondylodiscitis, the first diagnosis evoked was
tuberculosis. However, inflammatory markers and QuantiFERON were
negative. Considering the severity of his condition, antibacillary treat­
ment was started before pathology results. Biopsy was performed under
general anesthesia; specimen was taken after opening posterior wall of

* Corresponding author.
E-mail address: oussama1labib@gmail.com (O. Labib).

https://doi.org/10.1016/j.ijscr.2023.109007
Received 29 August 2023; Received in revised form 21 October 2023; Accepted 3 November 2023
Available online 4 November 2023
2210-2612/© 2023 The Authors. Published by Elsevier Ltd on behalf of IJS Publishing Group Ltd. This is an open access article under the CC BY-NC-ND license
(http://creativecommons.org/licenses/by-nc-nd/4.0/).
L. Douimi et al.
Fig. 1. a) Tumor protruding in the posterior wall of the oropharynx.
b) Per operative view of the tumor after incision of the posterior wall of the oropharynx.
the oropharynx mucosa. Pathology revealed a malignant extra-renal
rhabdoid tumor (Fig. 4). Immunohistochemistry was positive for cyto­
keratin and nonreactive for integrase interactor 1 (INI1) (Fig. 5). Radi­
ation therapy was indicated for his medullary compression but
unfortunately, he developed quadriplegia four days after biopsy was
taken and succumbed to his disease a week later.
3. Discussion
The overall incidence of ERRT is estimated at 0.15 to 0.6 per million
children [2]. The incidence of neck and adult MRT has not been re­
ported. However, adult MRT is estimated to be lower than 0.15 per
million because most MRT are seen in infants, and less frequently in
adults [3].
ERRT have been described in different sites of the human body (liver,
skin, and other soft tissues) but are more commonly observed in the
central nervous system [4].
The tumor is called “rhabdoid” because the cells microscopically
resemble rhabdomyoblasts but neither the ultrastructural or immuno­
histochemical features are in favor of a myogenic origin [5].
Homozygous inactivation of SMARCB1 gene; a classic tumor sup­
pressor, is the main substratum of MRT pathophysiology [1]. The
diagnosis of MRT is mainly based on histopathology, immunohisto­
chemistry and molecular studies. Loss of INI1 expression due to biallelic
mutation of the SMARCB1 gene on chromosome 22q11.2 is character­
istic [5].
Considering that MRT may have different cellular origins (epithelial,
histiocytic, neuroectodermal, neural, and myogenic) such that different
cell types may develop into MRT [4]. In addition to the fact that it can
occur in almost any anatomic location, and that head and neck, and para
vertebral muscles are a common location of extra cranial ERRT [4]. We
are not sure if the tumor in this case originates from the vertebra
extending to the surrounding soft tissue or it originates from the soft
tissue of the neck and invades the vertebra. Both localizations have been
reported in the literature with unfavorable outcomes since cervical
spinal cord compression compromises respiratory function.
The differential diagnoses of the MRT are of multiple causes like
neuroblastoma with 1–5 % neck localization, other soft tissue sarcoma
as undifferentiated pleomorphic sarcoma leiomyosarcoma, kaposi sar­
coma [12].
2
International Journal of Surgery Case Reports 114 (2024) 109007
The treatment of MRT is much of controversy as no single is identi­
fied, in his case Yongtai Zhou, the treatment consisted of a laminectomy
with complete resection of the intracanalicular portion of the tumor
postoperatively, the patient received radiation and chemotherapy [13].
Geller et al. cited an institutional preference or nonspecific infant brain
tumor protocols, combining surgery, possible radiation therapy, and
chemotherapy [14].
Because of the lack of standardized treatment protocols for MRT,
various combinations of chemotherapeutic drugs are used according to
institutional preference [5]. However, prognosis remains poor especially
for cervical vertebral localization as it results in a rapid fatal outcome
secondary to respiratory failure.
In his case report, Yu Tang et al. described a MRT of C4 vertebra
treated successfully with neoadjuvant chemotherapy, radiation therapy,
twice tumorectomy and radioactive seed implantation with good results
until 31 months post-surgery. The authors believe that the use of neo
adjuvant chemotherapy and radiation before surgery stopped tumor
growth and allowed complete surgical excision which is the most
meaningful treatment [4]. We could only find one case report of MRT
with lymph node metastasis to the neck. Mahmood et al. reported a
similar case of an 11 years old boy with a MRT of the posterior
oropharynx invading the clivus, petrous apex, the occipital bones, and
the C1 to C2 vertebral bodies with lymph node metastases to the neck
treated with chemotherapy [6].
Wolfe et al. Described two patients with neck MRT treated with
aggressive multimodal alkylator-based chemotherapy, local control
with radiation therapy, and consolidative high-dose chemotherapy with
autologous stem cell rescue using a carboplatin, etoposide, and
melphalan conditioning and who have no evidence of disease at 7 and 4
years from diagnosis [2].
Survival rates remain low despite multimodal approaches combining
surgery, chemotherapy and radiation therapy ranging between 31 % (a
study of 106 children with extracranial MRT in the UK) [7] and 38.4 %
(100 patients suffering from extracranial MRT, from 12 countries, “the
European Pediatric Soft Tissue Sarcoma Study Group”) [8].
A retrospective study of 53 MRT patients found even worse survival
rates at 3 and 5 years; 23.71 % and 18.44 % respectively. Younger age
and metastatic disease were associated with poor outcomes [9].
Another multicenter retrospective study of 26 extrarenal, non-
cranial RT found a median time to recurrence or progression of 5
L. Douimi et al. International Journal of Surgery Case Reports 114 (2024) 109007

Fig. 2. MRI images revealing C2–C3 signal abnormality with epidural infiltration and spinal cord compression and significant infiltration of soft tissue as well as left
lateral cervical lymphadenopathy.

Fig. 3. CT scan images showing a mass effect on the oropharynx on the inside and the jugulo-carotid vessels outside as well as a C2–C3 spondylodiscitis with
medullary compression.

months with only one patient free of disease at 7 years [10].
Although older age and lower stage disease are correlated to an
improved prognosis in selected patients with localized RT, the overall
outcomes of RT remain poor despite maximized treatment, rending the
discovery and application of novel targeted therapy mandatory. This is
likely to develop from a deeper understanding of RT biology and further
preclinical investigations [1].
4. Conclusion
RT remains a biologically intriguing, classic model of epigenetically
controlled aggressive neoplasia. SMARCB1-related biology and

3
L. Douimi et al. International Journal of Surgery Case Reports 114 (2024) 109007

Fig. 4. HE×100: Sheets of cells with dense eosinophilic cytoplasm and eccentric nucleus with prominent nucleolus.

Fig. 5. INI1 stain by immunochemistry showing loss of expression by tumor cells (positive control: lymphocytes).

potential therapeutic targets are the main focus of preclinical in­ Funding
vestigations that aim to expand treatment options and improve patient's
survival. N/A

Ethical approval Guarantor

Ethics clearance was not necessary as the case was judged as fitting Dr. Labib Oussama.
the ethics standard criteria of our board of studies and research.

4
L. Douimi et al.
Patient consent
[6]
Written consent was obtained from the patient for publication and
any accompanying images. a copy of the written consent is available for
review by the Editor-in-Chief of this journal on request.
[7]
Conflict of interest statement [8]
The authors declare that there is no conflict of interest.
[9]
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