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Endolymphatic
sac papillary tumor: A case report and review.
Auris Nasus Larynx. 2007 Sep 11.
Endolymphatic
sac papillary tumor (endolymphatic sac adenoma, temporal-mastoid
bone adenoma or adenocarcinoma, low-grade adenocarcinoma of
potential endolymphatic sac origin, aggressive papillary tumor of
the temporal bone, Heffner's tumor) is a rare lesion that involves
the temporal bone. This tumor usually appears alone, but in 11-30%
of afflicted individuals, it is accompanied by von Hippel-Lindau
disease. Endolymphatic sac papillary tumors are destructive tumors
that exhibit locally aggressive behavior. They slowly grow into the
posteromedial section of petrous temporal bone. The main symptoms
produced by these lesions include hearing loss and cranial nerve
deficits. Endolymphatic sac papillary tumors develop in two
principal patterns that histopathologically form follicular and
papillary or solid structures. Those two patterns are usually
manifested in the same tumor. Immunochemical analysis of these
tumors usually reveals cytokeratin, vimentin, epithelial membrane
antigen, and (less frequently) S-100 protein and neuron-specific
enolase. Local excision is curative for endolymphatic sac papillary
tumors. The currently favored method of treatment consists of
excision and long-term follow-up. The role of adjuvant radiotherapy
as treatment is controversial. This case report describes an
endolymphatic sac tumor in a 22-year-old woman without von
Hippel-Lindau disease who had a number of complaints, including
deafness in her left ear, complete left-sided facial paralysis, and
hoarseness of approximately 8 years' duration.
Endolymphatic sac
tumor located around semicircular canals.Auris
Nasus Larynx. 2006 Jun;33(2):173-7. Epub 2006 Feb 8.
We report a
case of endolymphatic sac tumor (ELST). A 48-year-old female had
recurrent and slowly progressive hearing loss, accompanied with
dizziness like Meniere's disease. A tumor was located around the
semicircular canals, and was detected on CT and MRI. The patient
underwent total removal of the tumor using a transmastoid approach.
Histopathological examinations agreed with features of an ELST. The
tumor was highly suspected to have originated from the rugose
portion of the endolymphatic sac or the endolymphatic duct, based on
surgical and imaging studies. Structure of the membranous labyrinth
was preserved regardless of the existence of the tumor around
semicircular canals with bone destruction. ELSTs seem to have an
osteolytic or osteophilic nature, by examining patterns of tumor
infiltration.
Differential
grading of endolymphatic sac tumor extension by virtue of von
Hippel-Lindau disease status. Otol Neurotol.2004 Sep;25(5):773-81.
OBJECTIVE:
Endolymphatic sac tumors are aggressive papillary tumors of the
temporal bone frequently associated with von Hippel-Lindau disease.
The goal of this study was to use a newly devised classification
system as a means to analyze differences between endolymphatic sac
tumor extension in von Hippel-Lindau disease and non-von
Hippel-Lindau disease patients. METHODS: Previously reported cases
of endolymphatic sac tumor and two new cases were retrospectively
reviewed and assigned to a new classification system consisting of
four grades based on tumor extent and location. RESULTS: Mean age of
103 patients without von Hippel-Lindau disease was 52.5 years,
whereas in 46 patients with VHL the mean age was 31.3 years.
Patients with von Hippel-Lindau disease were more likely to be
female (female-to male ratio of 2:1 for von Hippel-Lindau disease
patients versus 1:1 for non-von Hippel-Lindau disease patients).
Symptoms consisted of hearing loss (100% [mean duration, 10 yr] for
VHL patients versus 97% [mean duration, 7.8 yr] for non-von
Hippel-Lindau disease patients), facial weakness (38% versus 49%),
and tinnitus or vertigo (41% versus 60%). Bilateral tumors were
common in von Hippel-Lindau disease patients (28% versus 1%). Tumors
in von Hippel-Lindau disease patients were significantly more likely
to be lower grade than tumors in non-von Hippel-Lindau disease
patients (Grade I, 40% versus 25%; Grade II, 50% versus 58%; Grade
III, 8% versus 14%; and Grade IV, 2% versus 4%; p < 0.05). Before
1988, there were relatively fewer Grade I (15% versus 33%) and
relatively more Grade II (69% versus 47%) endolymphatic sac tumors
in non-von Hippel-Lindau disease patients than after 1988.
CONCLUSIONS: Increased usefulness of intracranial imaging since 1988
has led to the diagnosis of sporadic endolymphatic sac tumors with
lower grades. Surveillance imaging in von Hippel-Lindau disease may
account for the greater proportion of endolymphatic sac tumors
diagnosed with lower grades. Endolymphatic sac tumors associated
with a diagnosis of von Hippel-Lindau disease appear to affect a
younger population of patients than non-von Hippel-Lindau disease
cases and occur in women twice as often as in men when associated
with von Hippel-Lindau disease. In addition, tumors are more
frequently bilateral and less advanced in the von Hippel-Lindau
disease patient as opposed to the non-von Hippel-Lindau disease
patient.
Endolymphatic sac tumor (low-grade papillary adenocarcinoma) of the
temporal bone.Acta
Otolaryngol. 2003 Dec;123(9):1022-6.
The entity
which has come to be known as an endolymphatic sac tumor (ELST) has,
in the past, been known as adenocarcinoma of endolymphatic sac
origin, aggressive papillary tumor of the temporal bone and
Heffner's tumor. ELSTs arise in the vicinity of the inner ear and
may extend to involve both the posterior fossa as well as the middle
ear and the external ear canal, which may complicate the
differential diagnosis ELSTs are typically seen in adults, with only
rare descriptions in pediatric patients. They may be sporadic tumors
or they may arise as part of the symptom complex of von
Hippel-Lindau disease. Clinical signs at presentation range from a
mass in the external ear canal to sensorineural deafness to cranial
nerve palsies. Imaging studies reveal a destructive lesion of the
petrous bone which is heterogeneous on MR scanning. Light microscopy
reveals two chief patterns: a follicular pattern, reminiscent of
thyroid parenchyma; and a papillary/solid pattern. Both patterns are
often admixed in the same tumor, and the individual tumor cells are
cytologically bland. Immunohistochemically, ELSTs are typically
keratin-, vimentin- and epithelial membrane antigen-positive; they
are often S-100 protein-positive and neuron-specific enolase-positive
as well. ELSTs are difficult to extirpate surgically (owing to their
locally aggressive nature); nevertheless, surgical excision remains
the mainstay of current therapy. These are slow-growing (albeit
locally aggressive) tumors which have only rarely been reported to
metastasize; as such, they remain principally a problem of local
control.
Hearing
preservation surgery for small endolymphatic sac tumors in patients
with von Hippel-Lindau syndrome.Otol
Neurotol. 2002 May;23(3):378-87.
OBJECTIVE:
To determine the incidence of bilateral endolymphatic sac tumors in
von Hippel-Lindau syndrome and to describe the technique and results
of hearing preservation surgery for small endolymphatic sac tumors
in a series of patients with von Hippel-Lindau syndrome. STUDY
DESIGN: Analysis of the literature to determine the incidence of
bilateral endolymphatic sac tumors and a retrospective case review
of hearing preservation surgery for removal of small endolymphatic
sac tumors in four patients with von Hippel-Lindau syndrome.
SETTING: Tertiary care academic medical centers. PATIENTS: Four
patients with von Hippel-Lindau syndrome (three with bilateral
endolymphatic sac tumors) and progressive sensorineural hearing loss
in which preoperative imaging studies revealed in situ or small
endolymphatic sac tumors without ipsilateral labyrinthine
destruction. INTERVENTION: All four patients had complete surgical
excisions of the endolymphatic sac tumor via one of three surgical
approaches with the goal of hearing preservation. One patient had
bilateral surgery. MAIN OUTCOME MEASURES: Audiometric and
radiographic. RESULTS: Nearly one-third (30.2%) of patients with von
Hippel-Lindau syndrome and endolymphatic sac tumors have bilateral
disease. All four patients (five ears) maintained serviceable
hearing postoperatively after surgical excision of the endolymphatic
sac tumor via a variety of approach options. CONCLUSION: The
discovery of a small or in situ endolymphatic sac tumor affords the
patient the option of surgical removal with hearing preservation.
This is critical in the patient with von Hippel-Lindau syndrome who
is at risk for bilateral disease and complete bilateral anacusis if
tumor growth progresses.
Endolymphatic sac tumor and von Hippel-Lindau disease. Review of the
literature.Acta
Otorrinolaringol Esp. 2002
Aug-Sep;53(7):515-20.
This report
describes a patient with Von Hippel-Lindau disease revealed by an
endolymphatic sac tumor. Endolymphatic sac tumor (EST) was only
recently recognized as a manifestation of Von Hippel-Lindau (VHL)
disease. EST are vascular lesions that destroy and expand bone. We
report a recently treated case of an EST. A 30-year-old woman
presented with otalgia and hearing loss. Computed tomography and
magnetic resonance imaging showed typical features of an EST. We
checked for VHL and found this disease in the patient. VHL disease
is a hereditary cancer syndrome caused by germline mutations of the
VHL tumor suppressor gene. A molecular diagnosis of VHL is nowadays
available, and this has change the clinical management of patients
and their families. Diagnosis of VHL has to be suspected in patients
with a VHL-related tumor without familial history and especially in
those cases of hemangioblastoma or endolymphatic sac tumors. Such
patients should be systematically investigated for clinical and
molecular evidence of VHL disease.
Endolymphatic sac tumor: a case report.
Auris Nasus
Larynx. 2001 Aug;28(3):245-8.
Papillary
tumors of the temporal bone are aggressive neoplasms which may occur
sporadically or as a part of von Hippel-Lindau disease. The term 'endolymphatic
sac tumor' identifies the origin of these rare tumors. The clinical
manifestations are sensorineural hearing loss, facial paralysis,
cerebellar disorders and vertigo. The tumor is locally invasive,
destructive and hypervascular exhibiting consistent imaging and
histopathologic features. The treatment of choice is the total
removal of the lesion although complete excision of the advanced
lesion is nearly impossible due to the anatomic complexity of the
endolymphatic sac and distinct patterns of extension. We present a
50-year-old male patient with endolymphatic sac tumor with left
sided sensorineural hearing loss and review the literature.
Cytology of
endolymphatic sac tumor.Mod
Pathol. 2001 Sep;14(9):920-4.
A
77-year-old man presented with decreased mental status and an
enhancing partially cystic tumor along the left tentorium on
magnetic resonance imaging after mastoidectomy and petrosectomy for
an "auditory canal tumor." Smears of the aspirated cyst fluid
revealed rare epithelial cell clusters, some with papillary
features, foamy macrophages, and blood. The cells were orderly, with
fairly bland nuclei and well-defined cell borders. The cell block
contained similar epithelium, with cells containing eosinophilic and
focally vacuolated cytoplasm, some with pigmented granules
resembling hemosiderin. Numerous foam cells were also present.
Review of the patient's previous and concurrent resection material
showed an endolymphatic sac tumor, a rare neoplasm that arises in
the endolymphatic sac in the temporal bone. The previously
undescribed cytologic features of this rare neoplasm are discussed.
Endolymphatic sac
tumor: a rare tumor of internal ear. Report of two cases.
Ann Pathol. 2000 Sep;20(4):349-52.
Papillary
tumors of the temporal bone are rare and aggressive neoplasms.
Recently described, these tumors had initially a presumed middle-ear
origin. Only recently, convincing anatomic, morphological and
immunohistochemical arguments exist for an endolymphatic sac origin
(inner-ear origin). We report two cases of endolymphatic sac tumor.
These tumors can be encountered sporadically or in Von Hippel-Lindau
disease. They classically grow very slowly, resulting in late
clinical manifestations with expansive mass invading temporal bone
and extending in posterior fossa. Radiologically, these
endolymphatic sac tumors can mimic metastatic carcinoma,
paraganglioma, or cerebellar haemangioblastoma specially in von
Hippel-Lindau disease. Histology shows a papillary epithelial tumor
with hypervascular stroma, without atypia. The treatment for these
tumors is surgical and curative when early diagnosed. In apparently
sporadic cases, genetic analysis for Von Hippel-Lindau disease
should be considered.
Differential
expression of transthyretin in papillary tumors of the endolymphatic
sac and choroid plexus.Laryngoscope.
1997 Feb;107(2):216-21.
Aggressive
papillary tumors of the temporal bone, occurring sporadically or as
part of von Hippel-Lindau disease, have been shown to originate
within the endolymphatic sac or duct. Also implicated as a potential
precursor from which some of these tumors may arise is ectopic
choroid plexus epithelium. To aid in the differentiation between
papillary tumors of endolymphatic sac and duct origin and those
arising from choroid plexus, an immunohistochemical study using
stains for transthyretin (TTR), cytokeratins, S-100 protein,
epithelial membrane antigen (EMA), and glial fibrillary acidic
protein (GFAP) was carried out on archival specimens of normal and
neoplastic endolymphatic sac and duct and choroid plexus epithelium.
Transthyretin, a marker for choroid plexus epithelium, was found to
show differential expression between choroid plexus papillomas and
aggressive papillary tumors of the endolymphatic sac or duct.
Therefore the use of TTR in concert with other immunohistochemical
stains appear to aid in the differentiation between intracranial and
intratemporal papillary tumors arising from choroid plexus and
endolymphatic sac or duct epithelium.
Low-grade
papillary adenocarcinoma of the endolymphatic sac. Report of three
cases with immunohistochemical study.
Ann Pathol.
1996 Sep;16(4):271-5.
Glandular
tumors involving the mastoid and the middle ear are rare, and
distinguishing between adenoma and adenocarcinoma remains difficult.
Among these latter lesions, two distinct patterns are accepted. One
of them, the papillary form takes a more aggressive course with
wider regional spread and must be separated from the other type, the
middle ear carcinoma. Its microscopic appearance and clinical course
have been extensively described by Heffner who considered it as
"low-grade adenocarcinoma of probable endolymphatic sac origin". A
few cases have been associated with von Hippel-Lindau disease. Three
cases of papillary adenocarcinoma of endolymphatic sac origin are
reported. One concerned an isolated tumor, the two others were
associated with von Hippel-Lindau disease. Their clinical,
pathological and immunohistochemical data are presented.
Are
papillary adenomas endolymphatic sac tumors?Ann
Otol Rhinol Laryngol. 1995
Aug;104(8):613-9.
Papillary
adenomas of the temporal bone have been considered as originating
from the endolymphatic sac. The radiologic, surgical, and pathologic
findings in a patient suffering from von Hippel-Lindau disease with
bilateral papillary adenomas of the temporal bone cast some doubt on
this site of origin. Radiologically, the center of tumor growth was
at the top of the jugular bulb. Intraoperatively, the tumor was
found to have reached the lateral wall of the endolymphatic sac, but
the lumen was tumor-free. Both ciliated and nonciliated tumor cells
were found in the resected tumor, resembling the ultrastructure of
normal epithelial lining in the human mastoid. A strong positive
immunohistochemical reaction for keratin and negative reactions for
vimentin, glial fibrillary acidic protein, and S-100 protein in the
tumor tissue of this patient are typical for middle ear mucosa.
Therefore, the described papillary adenoma originated from the
mucosa of the pneumatic spaces surrounding the jugular bulb, and the
theory that the endolymphatic sac is the origin of all
papillary-cystic tumors (adenocarcinomas) should be questioned.
Endolymphatic sac tumors: histopathologic confirmation, clinical
characterization, and implication in von Hippel-Lindau disease.Laryngoscope.
1995 Aug;105(8 Pt 1):801-8.
The term "endolymphatic
sac tumor" (ELST) was coined to identify the likely origin of
aggressive papillary tumors of the temporal bone. To evaluate the
validity of this designation, the temporal bone collection at the
Massachusetts Eye and Ear Infirmary was accessed in an effort to
determine the pathologic relationship between these tumors and the
endolymphatic sac. The search resulted in the identification of a
de-novo papillary epithelial lesion arising within the confines of
the endolymphatic sac in a patient with von Hippel-Lindau (VHL)
disease who harbored a large, destructive ELST in the opposite
temporal bone. This finding provides the most substantial evidence
to date regarding the origin of the ELST and the accuracy of its
nomenclature. Seven additional clinical cases of ELST were
identified and analyzed in order to define the natural history of
these tumors. All patients had a history of sensorineural hearing
loss diagnosed an average of 10.6 years prior to tumor discovery.
The presence of a polypoid external auditory canal mass, facial
paralysis, and evidence of a destructive mass arising on the
posterior fossa surface of the temporal bone were common physical
and radiographic findings. The management of these patients, as well
as those who are probably prone to such tumors (i.e., VHL patients),
is discussed.
Aggressive
papillary tumors of the endolymphatic sac: clinical and tissue
culture characteristics.Am
J Otol. 1995 Nov;16(6):778-82.
Aggressive
papillary tumors of the temporal bone are neoplasms that were
recently re-classified as tumors of the endolymphatic sac. They
typically invade the mastoid bone and otic capsule and can grow into
the petrous apex. The authors have treated three patients with this
rare neoplasm and grown one of the tumors in tissue culture. This
report reviews the clinical presentation in the three patients and
the immunohistochemical staining characteristics of the tumor and
tumor culture as compared to those of the endolymphatic sac.
Findings support the hypothesis that aggressive papillary lesions of
the temporal bone arise from the endolymphatic sac. Additionally, it
is noted that the tumor culture maintains the characteristics of the
original tumor and thus provides an exciting laboratory model for
further study of this rare neoplasm.
Aggressive
papillary tumor of middle ear/temporal bone and adnexal papillary
cystadenoma. Manifestations of von Hippel-Lindau disease.Am
J Surg Pathol. 1994 Dec;18(12):1254-60.
The
occurrence of an aggressive papillary middle ear/temporal bone tumor
(APMET) and a benign adnexal papillary tumor of probable mesonephric
origin (APMO) in a patient with von Hippel-Lindau disease (VHL) is
reported. Histologically, both tumors were identical to papillary
cystadenomas of the epididymis and broad ligament of probable
mesonephric derivation. A comprehensive literature review showed
that including the current case, seven of 46 (15%) documented cases
of APMET and four of four (100%) cases of APMO arose in patients
with VHL. Given an estimated minimum birth incidence of 1/36,000, a
one-sample test of binomial proportion using the exact method
establishes that the association of APMET and APMO with VHL is
highly significant (p = 1.4 x 10(-24) and 1 x 10(-18),
respectively). The data indicate that APMET and APMO may represent
major visceral manifestations of VHL. Accordingly, in the presence
of one of these tumors strong consideration should be given to the
diagnosis of VHL, given either the presence of another major
component of VHL or documentation of VHL in at least one
consanguineous relative.
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