Introduction
Rhabdoid tumors are an extremely rare malignant tumor entity. They are most often diagnosed in the pediatric population, with a median age of 17 months.1, 2
In addition to the renal site (rhabdoid tumors of the kidney), extra-renal localizations have been reported, notably in the central nervous system (CNS), and soft tissues (atypical teratoid/rhabdoid tumors).3 We report a rare case of retro-orbital malignant rhabdoid tumor in new born that presented with exophthalmos.
Case Report
A newborn girl, without any antenatal abnormality, presented us10 days after her birth with history of gradually increasing forward protrusion of the left eye.
On examination there was left eye axial proptosis, firm on retropulsion with no orbital thrill. Ocular motility was restricted in all direction.
The examination of the anterior segment showed diffuse conjunctival hyperemia and chemosis with exposer keratopathy and abolished photo-motor reflex. Fundus examination was within normal limit. A normal right eye with no other malformations noted on inspection.
Figure 1
Clinical photograph taken on day 10 of life, showing a huge mass in the left orbit and proptosis
Figure 2
Magnetic Resonance Imaging of the orbit at admission: Axial T2 (A) Axial T1 FAT SAT (B) Gadolinium injection (C)
Figure 3
Microphotographs of immunohistochemical profile of the lesion: A: Round cell tumor proliferation (H & E × 20) B: Tumor cells positive for MIC-2 (CD99) C: tumor cells negative for CD3 D: tumor cells negative for CD20 E: tumor cells negative for myogenin F: loss of expression of INI1 gene
Table 1
Clinical features of congenital orbital rhbdoid tumor cases
|
Source /year |
Age |
Sex |
Localization |
Management |
Evolution |
|
Aashim Bhatia (2021) 4 |
8years |
F |
Cranial nerve III |
Surgical mass resection |
Not available |
|
Mahdi.Y et all (2015) 5 |
20 days |
F |
Optic nerve |
chemotherapy |
died |
|
Seeringer.A et all(2009) 6 |
1 day |
F |
Periorbital mass infiltrating the periorbital musculature |
Total resection of the tumor+ chemotherapy |
Complete remission for 5½ years |
|
Verma et all (2008) 7 |
3 years |
M |
Optic nerve |
Tumor resection |
Not available |
|
Koung Hoon K et al (2007) 8 |
1 day |
F |
Intraconal tumor |
Incisional biopsy+ exenteration after biopsy +chemotherapy |
died |
|
Jeffrey C. A et all( 2006) 9 |
3years |
M |
Optic Pathway tumor |
Radiotherapy+ chemotherapy |
Died |
|
Gunduz et all (1998) 10 |
36months |
F |
intraconal tumor |
chemotherapy +radiotherapy+ orbital exenteration |
Died |
|
D. Brian et all (1998) 11 |
1day |
M |
Intraconal tumor |
Subtotal-excision+ chemotherapy |
Not available |
|
Rootman et all(1989) 12 |
6 weeks |
M |
Intraconal tumor |
Incisional biopsy +radiotherapy+ chemotherapy |
Not available |
Magnetic resonance imaging (MRI) orbit revealed left retro-orbital mass of 14 mm size with a triple component (tissue, cystic, calcifications), a grade III exophthalmos, with a right cerebellar vermis metastasis.
The infant was managed by multidisciplinary approach. A temporary tarsorrhaphy was performed after a biopsy of the tumor. Histopathological examination revealed a teratoid/rhabdoid tumor.
Palliative chemotherapy was given. The infant died few days after second course of chemotherapy.
Discussion
The malignant rhabdoid tumor was first described in 1978 by Beckwith and Palmer, in the kidney.13 They described characteristics of rhabdoid tumors, namely that they are highly malignant and that they occur mainly in infants and young children.14
Malignant rhabdoid tumor has been reported in the ocular region secondarily as an ocular metastasis from the renal tumor or primarily in the orbit, cranial and optic nerve.7, 5, 4
TheTable 1 lists all cases of congenital orbital rhabdoid tumor found in the literature and accessed through the PubMed search engine.
The rarity and morphological pleomorphism of these tumors make their diagnosis often difficult and the use of pathological and immunohistochemical study seems justified for the confirmation of the rhabdoid nature of these neoplasms, despite the fact that they are histologically polyphenotypic. 15 The consistency of this entity is supported by the recent demonstration via multiple translational studies of the inactivation of the tumor suppressor gene SMARCB1(hSNF5/INI1) in 80% of cases.
The discovery of the role of the INI1 gene (22q11.2) has allowed the grouping of various entities under a single term and to define the predisposition syndrome of rhabdoid tumors, which opens perspectives for new targeted therapies aimed at controlling the cancer pathway, but also at prenatal diagnosis of this neoplastic entity.16
The therapeutic management of these tumors is based on a combination of surgery, radiotherapy and aggressive conventional chemotherapy. As for prognosis, overall survival is still estimated to be less than 30% regardless of tumor location, despite the progress that pediatric oncology has recognized in the last decades.15
Conclusion
Malignant rhabdoid tumors are rare specially in a primary orbital location. The diagnosis of this tumor entity remains difficult to establish because of pleomorphism of their clinical presentation. The diagnosis is based on radiological explorations, as well as pathological and immuno-histochemical studies.
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