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Adenoid cystic carcinoma presenting as an orbital apex mass with intracranial extension

      Adenoid cystic carcinoma (ACC) is an uncommon epithelial neoplasm that usually originates from the salivary glands of the head and neck, but it has been reported in other areas of the body as well.
      • Kwon R.O.
      • Lyon D.B.
      • Floyd M.
      • Girod D.A.
      Sinonasal adenoid cystic carcinoma presenting as an orbital mass.
      • Amit M.
      • Binenbaum Y.
      • Sharma K.
      • et al.
      Adenoid cystic carcinoma of the nasal cavity and paranasal sinuses: a meta-analysis.
      ACC is an aggressive malignancy with high rate of recurrence, distant metastasis, and intracranial extension.
      • Walsh R.D.
      • Vagefi M.R.
      • McClelland C.M.
      • et al.
      Primary adenoid cystic carcinoma of the orbital apex.
      Within the orbit, ACC typically presents as a superotemporal orbital mass of lacrimal gland origin, as the lacrimal gland is the only source of epithelial cells in the orbits.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr., R.C.
      • Adkins J.
      • De Potter P.
      Adenoid cystic carcinoma developing in the nasal orbit.
      Rare cases of tumours developing in the lacrimal sac or other areas of the orbit from ectopic lacrimal gland tissue have been reported.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr., R.C.
      • Adkins J.
      • De Potter P.
      Adenoid cystic carcinoma developing in the nasal orbit.
      • Parnell J.R.
      • Mamalis N.
      • Davis R.K.
      • Flaharty P.M.
      • Anderson R.L.
      Primary adenoid cystic carcinoma of the lacrimal sac: report of a case.
      • Kincaid M.C.
      • Meis J.M.
      • Lee M.W.
      Adenoid cystic carcinoma of the lacrimal sac.
      • Tse D.T.
      • Kossler A.L.
      • Feuer W.J.
      • Benedetto P.W.
      Long-term outcomes of neoadjuvant intra-arterial cytoreductive chemotherapy for lacrimal gland adenoid cystic carcinoma.
      • Tse D.T.
      • Benedetto P.
      • Morcos J.J.
      • Johnson T.E.
      • Weed D.
      • Dubovy S.
      An atypical presentation of adenoid cystic carcinoma of the lacrimal gland.
      To our knowledge, there have been only 3 reported cases of ACC arising as a primary orbital tumour without lacrimal gland involvement.
      • Walsh R.D.
      • Vagefi M.R.
      • McClelland C.M.
      • et al.
      Primary adenoid cystic carcinoma of the orbital apex.
      • Lin S.C.
      • Kau H.C.
      • Yang C.F.
      • et al.
      Adenoid cystic carcinoma arising in the inferior orbit without evidence of lacrimal gland involvement.
      • Venkitaraman R.
      • Madhavan J.
      • Ramachandran K.
      • Abraham E.
      • Rajan B.
      Primary adenoid cystic carcinoma presenting as an orbital apex tumor.
      The authors would like to report another case of primary orbital apex tumour with a subsequent histopathologic diagnosis of ACC without pathological evidence of lacrimal gland involvement.
      A 70-year-old female presented with a 5-month history of left-sided facial numbness in the infraorbital nerve region and progressive visual loss of the left eye with intermittent sharp facial and periorbital pain. The patient’s medical history was significant for asthma, hypothyroidism, and hypertension. There was no history of sinonasal, eyelid, or conjunctival lesions. Her surgical history included a remote history of tonsillectomy and cholecystectomy.
      On examination, visual acuity was 20/20 OD and no light perception OS. There was a dense left afferent pupillary defect. Extraocular movement was severely restricted in all directions of gaze. There was evidence of globe displacement with approximately 3 mm of left proptosis.
      A computed tomography (CT) scan of the head and orbits demonstrated a left optic apex mass encasing the optic nerve and extraocular muscles without evidence of sinus involvement. The CT scan also demonstrated extension into the left pterygopalatine fossa and left superior and inferior orbital fissures, as well as erosion of the anteroinferior squamous temporal bone. A subsequent magnetic resonance imaging (MRI) scan of the head and orbits was obtained, demonstrating the perineural spread of the soft tissue mass into the pterygopalatine fossa along the maxillary division of the left trigeminal nerve into the cavernous sinus. There was also signal abnormality within the left anteroinferior temporal lobe, which raised the possibility of brain invasion (Fig. 1).
      Figure thumbnail gr1
      Fig. 1Magnetic resonance imaging of brain and orbits. Irregular infiltrative lesion in the left orbital apex with extension into the left cavernous sinus and left anterior temporal lobe extra-axial space seen on (A) saggital cut on T1 and (B) axial cut on T1 with gadolinium.
      Given the location of the mass, the patient was referred to otolaryngology for diagnostic biopsy and therapeutic decompression of the orbit. Endoscopic biopsy was successfully performed with the LandmarX image guidance system Medtronic (Dublin, Ireland). At the time of biopsy, no evidence of sinus invasion or primary nasal malignancy was noted. The tissue was submitted for frozen section, cytogenetic testing, and flow cytometry analysis. Histopathology found the tumour to be consistent with intermediate-grade ACC (Fig. 2). A metastatic workup was negative without any evidence of distant metastases on positron emission tomography (PET) scan.
      Figure thumbnail gr2
      Fig. 2Photomicrographs showing lobules of tumour cells separated by fibrovascular septa. Evidence of mucin production was present (hematoxylin and eosin stain, original magnification ×50). Left inset: higher magnification showing mitotic figure (arrow). Right inset: the tumour showed presence of neuronal invasion (arrow).
      To achieve adequate pain control, a lid-sparing left orbital exenteration was performed. The exenteration specimen demonstrated lymphovascular and perineural infiltration of intermediate-grade ACC along the optic nerve. The tumour infiltration did not involve other globe structures or the lacrimal gland. Subsequently, palliative radiation to the left orbital cavity was applied. The patient received 6000 cGY in 30 fractions over the course of 6 weeks. At 6-, 12-, and 18-month follow-ups, the patient remained pain-free and without clinical or radiographic evidence of near or distant metastasis.
      ACCs are rare malignant epithelial tumours of the exocrine glands, accounting for less than 2% of head and neck malignancies
      • Kwon R.O.
      • Lyon D.B.
      • Floyd M.
      • Girod D.A.
      Sinonasal adenoid cystic carcinoma presenting as an orbital mass.
      • Husain Q.
      • Kanumuri W.
      • Svider P.F.
      • et al.
      Sinonasal adenoid cystic carcinoma: systematic review of survival and treatment strategies.
      and approximately 1% of orbital tumors.
      • Shields J.A.
      • Shields C.L.
      • Scartozzi R.
      Survey of 1264 patients with orbital tumors and simulating lesions: the 2002 Montgomery lecture, part 1.
      ACCs often have prolonged history, insidious growth, and late diagnosis, with indolent recurrence and distant hematogenous metastasis. The prognosis is often poor because the tumour can recur and metastasize by spreading submucosally and throughout major and minor nerves.
      • Husain Q.
      • Kanumuri W.
      • Svider P.F.
      • et al.
      Sinonasal adenoid cystic carcinoma: systematic review of survival and treatment strategies.
      The patient presented in this report had a very unusual presentation of ACC over the orbital apex without alternative primary source identified. Because of the presence of epithelial tissues, the vast majority of ACCs of the orbit arise from the lacrimal glands, and the most common orbital presentation of ACC is a palpable mass in the superior temporal quadrant.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr., R.C.
      • Adkins J.
      • De Potter P.
      Adenoid cystic carcinoma developing in the nasal orbit.
      • Venkitaraman R.
      • Madhavan J.
      • Ramachandran K.
      • Abraham E.
      • Rajan B.
      Primary adenoid cystic carcinoma presenting as an orbital apex tumor.
      Primary orbital ACC without lacrimal gland involvement is rare. Shields et al.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr., R.C.
      • Adkins J.
      • De Potter P.
      Adenoid cystic carcinoma developing in the nasal orbit.
      reported a case of ACC in the anteronasal region of the orbit without bone erosion in a 26-year-old male, and the authors postulated that the ACC arose from ectopic lacrimal gland tissue within the medial orbit. To date, there have been only 3 cases of primary ACC orbital tumour without evidence of lacrimal tissue involvement. Venkitaraman et al.
      • Venkitaraman R.
      • Madhavan J.
      • Ramachandran K.
      • Abraham E.
      • Rajan B.
      Primary adenoid cystic carcinoma presenting as an orbital apex tumor.
      described a case of ACC in the orbital apex with intracranial extension without evidence of lacrimal tissue involvement in a 51-year-old male. Lin et al.
      • Lin S.C.
      • Kau H.C.
      • Yang C.F.
      • et al.
      Adenoid cystic carcinoma arising in the inferior orbit without evidence of lacrimal gland involvement.
      presented a case of ACC in a 60-year-old female in the inferior orbit involving the inferior rectus muscle and without evidence of lacrimal tissue involvement. Walsh et al.
      • Walsh R.D.
      • Vagefi M.R.
      • McClelland C.M.
      • et al.
      Primary adenoid cystic carcinoma of the orbital apex.
      reported a case of ACC invading the orbital apex and cavernous sinus without evidence of lacrimal tissue involvement in a 53-year-old female.
      It is also possible for ACC to arise outside of the orbit with secondarily orbital apex or orbit involvement through perineural spread of the tumour. For example, Arsene et al.
      • Arsene D.
      • Ardeleanu C.
      • Dănăilă L.
      Skull base tumor invading both cavernous sinuses. Adenoid cystic carcinoma mimicking a meningioma.
      presented a case of a 55-year-old female who presented with ACC over the anterior skull base with invasion into bilateral cavernous sinuses and right orbit but without ACC involvement of the lacrimal gland. In the case presented here, multiple imaging modalities, including CT, MRI, and PET, failed to identify other possible primary tumour sites. Also, longer-term follow-up has not revealed any alternative local or distant sources, thus suggesting that orbital apex is likely the primary site of the ACC.
      In the literature, there is a lack of consensus on the optimal treatment of orbital ACC,
      • Walsh R.D.
      • Vagefi M.R.
      • McClelland C.M.
      • et al.
      Primary adenoid cystic carcinoma of the orbital apex.
      partly because of the rarity of the condition. The conventional therapies typically include surgical resection and postoperative radiation.
      • Tse D.T.
      • Kossler A.L.
      • Feuer W.J.
      • Benedetto P.W.
      Long-term outcomes of neoadjuvant intra-arterial cytoreductive chemotherapy for lacrimal gland adenoid cystic carcinoma.
      However, because of lacrimal gland ACC’s propensity toward infiltration of surrounding structures, retrograde perineural extension, and hematogenous and lymphatic spread, combinations of conventional treatment modalities have not produced stepwise incremental improvements in treatment outcome.
      • Tse D.T.
      • Kossler A.L.
      • Feuer W.J.
      • Benedetto P.W.
      Long-term outcomes of neoadjuvant intra-arterial cytoreductive chemotherapy for lacrimal gland adenoid cystic carcinoma.
      Other treatments have been reported, including plaque radiotherapy
      • Shields J.A.
      • Shields C.L.
      • Freire J.E.
      • Brady L.W.
      • Komarnicky L.
      Plaque radiotherapy for selected orbital malignancies: preliminary observation: the 2002 Montgomery Lecture, part 2.
      and intra-arterial cytoreductive chemotherapy (IACC).
      • Meldrum M.L.
      • Tse D.T.
      • Benedetto P.
      Neoadjuvant intracarotid chemotherapy for treatment of advanced adenocystic carcinoma of the lacrimal gland.
      In a retrospective case series, Tse et al.
      • Tse D.T.
      • Kossler A.L.
      • Feuer W.J.
      • Benedetto P.W.
      Long-term outcomes of neoadjuvant intra-arterial cytoreductive chemotherapy for lacrimal gland adenoid cystic carcinoma.
      demonstrated the potential for neoadjuvant IACC in improving survival and decreasing disease recurrence for those patients with favourable anatomy. However, it is important to note that neoadjuvant IACC is designed for the treatment of ACC involving the lacrimal gland and relies on an intact lacrimal artery for favourable outcomes. For primary orbital ACC without evidence of lacrimal tissue involvement, the effectiveness of IACC remains unknown. For ACC with skull base involvement, proton beam radiation therapy has emerged as a promising treatment option. Proton beam radiation allows larger radiation doses to be delivered to tumour tissue while significantly lowering the dose to surrounding healthy tissues.
      • Pommier P.
      • Liebsch N.J.
      • Deschler D.G.
      • et al.
      Proton beam radiation therapy for skull base adenoid cystic carcinoma.
      Although it has demonstrated encouraging rates of local tumour control, the lack of wide-spread availability and long-term data limit its clinical use at the present time.
      • Pommier P.
      • Liebsch N.J.
      • Deschler D.G.
      • et al.
      Proton beam radiation therapy for skull base adenoid cystic carcinoma.
      • Takagi M.
      • Demizu Y.
      • Hashimoto N.
      • et al.
      Treatment outcomes of particle radiotherapy using protons or carbon ions as a single-modality therapy for adenoid cystic carcinoma of the head and neck.
      Although exceedingly rare, here we present another case of ACC as a primary orbital apex tumour in the absence of lacrimal gland involvement. Given the aggressive nature of ACC, it is paramount for clinicians to include ACC in their differential diagnoses when evaluating orbital apex tumours, even without signs of lacrimal gland involvement.

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