Medulloepithelioma

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2] Roukoz A. Karam, M.D.[3]

Synonyms and Keywords: Medullary epithelioma, Diktyoma

Overview

Medulloepithelioma is a rare, primitive, fast-growing brain tumor that usually originates from cells of the embryonic medullary cavity. On the other hand, tumors originating in the ciliary body of the eye are referred to as embryonal medulloepitheliomas or diktyomas. Medulloepithelioma was first discovered by Bailey and Cushing in 1926. The pathogenesis of medulloepithelioma is characterized by highly malignant undifferentiated primitive neuroepithelial tumor. It most commonly manifests in the cerebral hemispheres, brainstem, cerebellum, and in peripheral sites. Medulloepithelioma arises from primitive medullary epithelium, which is normally involved in the embryonic formation of CNS. Medulloepithelioma commonly affects individuals younger than 10 years of age. CT scan findings of medulloepithelioma, include an isodense or hypodense lesion with variable heterogeneity and calcification. Complete surgical resection is the mainstay of treatment for medulloepithelioma.

Adjuvant radiochemotherapy is often indicated.

Historical Perspective

Intracerebral medulloepithelioma was first discovered by Bailey and Cushing in 1926.[1]

Intraocular medulloepithelioma was first named by Grinker in 1930; the name derives from its histopathological resemblance to an even rarer form of medulloeptihelioma of the brain described by Bailey and Cushing.[2]

The resemblance between the tumors refers to the neuroepithelium of the embryonic neural tube.[2]

Classification

Medulloepitheliomas are classified as embryonal tumors in the WHO classification of CNS tumors.[3]

In 2016, the WHO classification system was reviewed and identified the tumors that were previously labeled embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, and medulloepithelioma and included them in embryonal tumor with multilayered rosettes (ETMR) group; provided they have evidence of C19MC amplification.[4]

  • ETMR are highly malignant pediatric tumors with varied embryonal histology but shared genetic alterations in the C19MC gene.

Pathophysiology

Pathogenesis

The pathogenesis of medulloepithelioma is characterized by highly malignant undifferentiated primitive neuroepithelial tumor.

It most commonly manifests in the cerebral hemispheres, brainstem, cerebellum, and in peripheral sites.

Intraocular medulloepithelioma arises from the primitive medullary epithelium, which is normally involved in the embryonic formation of CNS and is a derivative of the inner layer of the optic cup. Rarely, it can also originate from the retina or optic nerve.[5]

Genetics

For embryonal tumor with multilayered rosettes (ETMR)

  • LIN28A immunohistochemistry
  • FISH analysis of the 19q13.42

Gross Pathology

Intraocular medulloepithelioma most commonly appears as a white, gray, or yellow-colored ciliary body tumor.[6]

It is possible to identify chalky gray-white deposits within the tumor; they are histologically composed of hyaline cartilage or bone.[7]

Microscopic Pathology

On microscopic histopathological analysis, characteristic findings of medulloepithelioma may include:

On immunohistopathological analysis, characteristic findings of medulloepithelioma may include:

  • Positive S-100
  • Positive INI1
  • Positive LIN28

Causes

The cause of medulloepithelioma is unknown.

Differentiating Medulloepithelioma from Other Diseases

Medulloepithelioma must be differentiated from other diseases that cause vision loss, ocular mass, and headache such as:

Epidemiology and Demographics

Medulloepithelioma is a rare disease.

Age

Medulloepithelioma commonly affects individuals younger than 10 years of age.[8]

The median age at diagnosis is 5 years old.[9]

Gender

Medulloepithelioma affects men and women equally.

Race

There is no racial predilection for medulloepithelioma.

Risk Factors

There are no known associated risk factors in the development of medulloepithelioma.

Screening

There is insufficient evidence to recommend routine screening for medulloepithelioma.

Natural History, Complications and Prognosis

Natural History

Complications

Common complications of medulloepithelioma include:[9]

Prognosis

The prognosis of medulloepithelioma is generally poor; the median survival time of patients with medulloepithelioma is approximately 5 - 10 months.[10]

Diagnosis

Diagnostic Study of Choice

The diagnosis of medulloepithelioma is based on immunhistochemistry, which reveals an over-expression of LIN28A protein.[11]

Previously, the diagnosis of medulloepithelioma required only morphological analysis; however, the World Health Organization classification of central nervous system tumors was revised, and now genetic analysis is necessary.[11]

History & Symptoms

Medulloepithelioma is usually asymptomatic; however, signs and symptoms of increased intracranial pressure may be sign upon presentation.[9]

Symptoms of medulloepithelioma may include:[9]

Physical Examination

Patients with medulloepithelioma usually are well-appearing. Physical examination may be remarkable for:

Patients with medulloepithelioma of the ciliary body present with some findings on clinical examination that are suggestive of the diagnosis, including:[12]

Laboratory Findings

There are no specific laboratory findings associated with medulloepithelioma.

Imaging Findings

CT and MR imaging findings can be helpful, especially if the mass is confined in an area of the ciliary body without involvement of the retina.[13]

X-ray Findings

There are no x-ray findings associated with medulloepithelioma.

CT Findings

Brain CT scan may be helpful in the diagnosis of medulloepithelioma.

Findings on CT scan suggestive of medulloepithelioma include isodense or hypodense lesions with variable heterogeneity and calcification.

The tumor enhances with contrast.

MRI Findings

MRI may be helpful in the diagnosis of medulloepithelioma. Findings on MRI suggestive of medulloepithelioma

Treatment

Medical Therapy

There is no standard regimen for medulloepithelioma due to its rarity, although craniospinal radiation, high dose chemotherapy with stem cell rescue has been used.

Surgery

Complete surgical resection is the mainstay of treatment for medulloepithelioma.

Adjuvant radio and chemotherapy is often indicated.[14]

Prevention

There are no primary preventive measures available for medulloepithelioma.

References

  1. Chakrabarti I, Majumdar K, Giri A (2012). "Infratentorial medulloepithelioma with divergent differentiation: Possibly a predictor of poor outcome". J Pediatr Neurosci. 7 (2): 142–5. doi:10.4103/1817-1745.102581. PMC 3519076. PMID 23248698.
  2. 2.0 2.1 Grinker, Roy R. (1931). "GLIOMAS OF THE RETINA". Archives of Ophthalmology. 5 (6): 920. doi:10.1001/archopht.1931.00820060088009. ISSN 0093-0326.
  3. Louis DN, Perry A, Reifenberger G, von Deimling A, Figarella-Branger D, Cavenee WK; et al. (2016). "The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary". Acta Neuropathol. 131 (6): 803–20. doi:10.1007/s00401-016-1545-1. PMID 27157931.
  4. Korshunov A, Sturm D, Ryzhova M, Hovestadt V, Gessi M, Jones DT; et al. (2014). "Embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma, and medulloepithelioma share molecular similarity and comprise a single clinicopathological entity". Acta Neuropathol. 128 (2): 279–89. doi:10.1007/s00401-013-1228-0. PMC 4102829. PMID 24337497.
  5. Canning CR, McCartney AC, Hungerford J (1988). "Medulloepithelioma (diktyoma)". Br J Ophthalmol. 72 (10): 764–7. doi:10.1136/bjo.72.10.764. PMC 1041579. PMID 3056510.
  6. Broughton WL, Zimmerman LE (1978). "A clinicopathologic study of 56 cases of intraocular medulloepitheliomas". Am J Ophthalmol. 85 (3): 407–18. PMID 655220.
  7. Vajaranant, Thasarat S.; Mafee, Mahmood F.; Kapur, Rashmi; Rapoport, Mark; Edward, Deepak P. (2005). "Medulloepithelioma of the Ciliary Body and Optic Nerve: Clinicopathologic, CT, and MR Imaging Features". Neuroimaging Clinics of North America. 15 (1): 69–83. doi:10.1016/j.nic.2005.02.008. ISSN 1052-5149.
  8. Russel DS, Rubinstein LJ. Pathology of tumors the nervous system, 5th ed. Baltimore: Williams & Wilkins 1989; pp. 247-51.
  9. 9.0 9.1 9.2 9.3 9.4 Peshtani A, Kaliki S, Eagle RC, Shields CL (2014). "Medulloepithelioma: A triad of clinical features". Oman J Ophthalmol. 7 (2): 93–5. doi:10.4103/0974-620X.137171. PMC 4134557. PMID 25136238.
  10. 10.0 10.1 Molloy PT, Yachnis AT, Rorke LB, Dattilo JJ, Needle MN, Millar WS; et al. (1996). "Central nervous system medulloepithelioma: a series of eight cases including two arising in the pons". J Neurosurg. 84 (3): 430–6. doi:10.3171/jns.1996.84.3.0430. PMID 8609554.
  11. 11.0 11.1 Kusakabe K, Kohno S, Inoue A, Seno T, Yonezawa S, Moritani K; et al. (2018). "Combined morphological, immunohistochemical and genetic analyses of medulloepithelioma in the posterior cranial fossa". Neuropathology. 38 (2): 179–184. doi:10.1111/neup.12431. PMID 28971535.
  12. Vajaranant TS, Mafee MF, Kapur R, Rapoport M, Edward DP (2005). "Medulloepithelioma of the ciliary body and optic nerve: clinicopathologic, CT, and MR imaging features". Neuroimaging Clin N Am. 15 (1): 69–83. doi:10.1016/j.nic.2005.02.008. PMID 15927861.
  13. Vajaranant TS, Mafee MF, Kapur R, Rapoport M, Edward DP (2005). "Medulloepithelioma of the ciliary body and optic nerve: clinicopathologic, CT, and MR imaging features". Neuroimaging Clin N Am. 15 (1): 69–83. doi:10.1016/j.nic.2005.02.008. PMID 15927861.
  14. Oumghar, Nezha; Hazmiri, Fatima Ezzahra; El Omrani, Abdelhamid; Rais, Hanane; Khouchani, Mouna (2017). "Posterior cerebral fossa medulloepithelioma: report of a case". BMC Clinical Pathology. 17 (1). doi:10.1186/s12907-017-0064-x. ISSN 1472-6890.

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