Introduction: The objective of this study was to identify and report the clinicopathologic features of two cases of intraocular malignant teratoid medulloepitheliomas with rhabdomyosarcomatous differentiation. Case Presentations: The clinical and pathologic findings in 2 patients who underwent enucleation for intraocular tumors were reviewed. The eyes were sectioned routinely, and immunohistochemical stains were performed to evaluate the intraocular tumors. The left eyes that were enucleated from 3- to 14-year-old females contained intraocular tumors that filled the posterior compartments. The tumors contained both neuroepithelial and mesenchymal components. Immunohistochemical stains were positive for neuron-specific enolase and S-100 in the neuroepithelial components. The mesenchymal components contained rhabdoid cells, which stained for desmin and myogenin. Mutational analysis revealed DICER1 mutations in both tumors. Both tumors were classified as malignant teratoid medulloepithelioma with rhabdomyosarcomatous differentiation. Conclusions: Intraocular medulloepithelioma may contain areas with rhabdomyosarcomatous differentiation and have DICER1 mutations.

Journal Section:
Case Series
Keywords:
Medulloepithelioma, Rhabdomyosarcoma, DICER1
1.
Chavez
M
,
Mafee
MF
,
Castillo
B
,
Kaufman
LM
,
Johnstone
H
,
Edward
DP
.
Medulloepithelioma of the optic nerve
.
J Pediatr Ophthalmol Strabismus
.
2004
;
41
(
1
):
48
–
52
.
Google Scholar
Crossref
Search ADS
PubMed
 
2.
Sadiq
MA
.
Medulloepithelioma
.
American Academy of Ophthalmology. EyeWiki
.
2019
. Available from: https://eyewiki.org/Medulloepithelioma
Google Scholar
 
3.
Pradhan
SB
,
Adhikari
RC
,
Shrestha
B
,
Sayami
G
,
Dali
S
,
Shrestha
HG
.
Malignant teratoid medulloepithelioma in eye
.
Kathmandu Univ Med J
.
2003
;
1
(
1
):
42
–
4
.
Google Scholar
 
4.
Earl
JB
,
Minckler
DS
,
Lee
TC
,
Murphree
AL
.
Malignant teratoid medulloepithelioma with retinoblastic and rhabdomyoblastic differentiation
.
J AAPOS
.
2013
;
17
(
3
):
328
–
31
.
Google Scholar
Crossref
Search ADS
PubMed
 
5.
Kaliki
S
,
Shields
CL
,
Eagle
RC
Jr,
Vemuganti
GK
,
Almeida
A
,
Manjandavida
FP
, et al.
Ciliary body medulloepithelioma: analysis of 41 cases
.
Ophthalmology
.
2013
;
120
(
12
):
2552
–
9
.
Google Scholar
Crossref
Search ADS
PubMed
 
6.
Caroleo
AM
,
De Ioris
MA
,
Boccuto
L
,
Alessi
I
,
Del Baldo
G
,
Cacchione
A
, et al.
DICER1 syndrome and cancer predisposition: from a rare pediatric tumor to lifetime risk
.
Front Oncol
.
2020
;
10
:
614541
.
Google Scholar
Crossref
Search ADS
PubMed
 
7.
Tadepalli
SH
,
Shields
CL
,
Shields
JA
,
Honavar
SG
.
Intraocular medulloepithelioma – a review of clinical features, DICER 1 mutation, and management
.
Indian J Ophthalmol
.
2019
;
67
(
6
):
755
–
62
.
Google Scholar
PubMed
 
8.
Kamihara
J
,
Paulson
V
,
Breen
MA
,
Laetsch
TW
,
Rakheja
D
,
Shulman
DS
, et al.
DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor
.
Mod Pathol
.
2020
;
33
(
10
):
1910
–
21
.
Google Scholar
Crossref
Search ADS
PubMed
 
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