Eman D. Albalawi, Hind M. Alkatan, Sahar M. Elkhamary, Leen Abu Safieh, Azza M.Y. Maktabi
Orbital Rhabdomyosarcoma is a highly malignant tumor predominantly affecting children. Our study adds more understanding of this tumor to ophthalmologists from the clinicopathological, radiological and genetic aspects.
A retrospective clinicopathological and radiological study of ocular rhabdomyosarcoma with genetic profiling.
All the cases with confirmed tissue diagnosis of orbital rhabdomyosarcoma presenting at a tertiary eye hospital in Riyadh, Saudi Arabia during the period 1985-2015.
Charts and histological slides of 26 patients were reviewed. DNA was extracted from paraffin-embedded biopsies and genotyping was performed to detect chromosomal abnormalities and Copy-number variations regions.
18 males and 8 females were included with a mean age at presentation of 6.9 years (SD of 4.4). Proptosis and globe displacement were the commonest clinical presentations. Embryonal histopathological type was the commonest (73.1%) with superior orbital involvement (p = 0.024). Using magnetic resonance imaging, the embryonal type showed higher Apparent diffusion coefficient (ADC) value compared to the alveolar type (p = 0.98). Genetic profiling showed Copy-number gain in regions spanning PAX3, DDIT3, Gli, Wnt6 genes. DICER1 gene implication was found in 9 sporadic cases.
Rhabdomyosarcoma is rare and occurs with a mean age of 7 years, predominantly among males. The commonest embryonal type is significantly correlated with superior orbital involvement. Radiologically, it shows an ADC of 0.67-0.09 × 10-3 mm2/s. (p = 0.98). The gain in PAX3, DDIT3, Gli1, Wnt6 genes is a new finding while the DICER1 gene implication in the absence of familial hereditary carcinoma is another interesting finding.
Mahmood Dhahir Al-Mendalawi
I read with interest the case report by Pennington et al. on the botryoid rhabdomyosarcoma (RMS) of the conjunctiva in a 5-year-old Asian boy. The authors interestingly described the clinical picture and imaging, histopathologic, and molecular findings as well as the treatment plan in the studied patient. I presume that the aggressive nature of the tumor on one side and its rare occurrence at an unusual site on the other side should trigger the authors to consider defective immune status in the studied patient. Among defective immune states, human immunodeficiency virus (HIV) infection is prioritized. My presumption is based on the following point. It is obvious that individuals infected with HIV are more vulnerable to various kinds of tumors compared to healthy individuals. The increased vulnerability has been suggested to be due to different factors, including immune deficiency, associated infection with oncogenic viruses, and life extension due to the use of antiretroviral treatment. Among tumors, RMS has been reported in HIV-positive patients. Asia represents one of the few regions globally where there is a continued increase in the incidence of HIV infection. I, therefore, presume that some sort of vertical HIV transmission from the mother to the child ought to be seriously considered. Hence, determining HIV status in the studied boy and his mother through the diagnostic panel of blood CD4 lymphocyte count and viral overload measurements was envisaged. If that panel was to reveal HIV infection, the case in question could be surely regarded the second novel case report of pediatric HIV-associated orbital RMS. The first case was reported in a Malaysian child published a decade ago.
Huw Oliphant BSc MBBCh Mark Taylor FRCPath Saul Rajak PhD FRCOphth
Cutaneous pleomorphic rhabdomyosarcoma (PRMS) is a rare malignant mesenchymal tumour which can affect all age ranges, though subcutaneous forms of this disease are uncommonly described. We present a case of a 77‐year‐old lady with a rapidly growing periocular lesion subsequently demonstrated on histopathological and immunohistochemical examination to be a PRMS. No orbital involvement was demonstrated and no distant metastases were evident. PRMSs represent highly aggressive and infiltrative tumours and must be recognized in a timely fashion to allow safe and adequate treatment. Alongside traditional histopathological examination, immunohistochemistry is invaluable in the diagnosis of this condition…..
Maftuhim Addenan, Choo May May, Teoh Kean Hooi, Fazliana Ismail, Tengku Ain Kamalden
Langerhans cell histiocytosis (LCH) is rarely encountered in ophthalmology practice. It is a spectrum of disorder characterized by accumulation of histiocytes in various tissues. Diagnosis is challenging as it may simulate periorbital hematoma, rhabdomyosarcoma, and neuroblastoma. We report a case of unifocal LCH with orbital extension. Diagnosis was obtained from incisional biopsy, and histopathological examination showed numerous histiocytes with eosinophilic infiltrations. The presence of Langerhans cells was confirmed by the presence of protein S-100, CD1a, and/or Langerin (CD207). Treatment depends on the degree of organ involvement. She responded well to cytotoxic drugs and steroids. This emphasized that prompt tissue diagnosis is crucial for early management.
Justin D Pennington, R Joel Welch, Sara E Lally, Jerry A Shields, Ralph C Eagle, Carol L Shields
No abstract available
Morten Jørgensen, Steffen Heegaard
Tumors that invade the orbit are uncommon. The majority are meningiomas arising from the sphenoid ridge (66%). Others are bone and cartilage tumors arising from the surrounding bones of the orbit, pituitary adenomas, and epithelial tumors arising from the paranasal sinuses and nasal cavity. Meningiomas occur more often in women, whereas epithelial tumors have a predilection for men. Meningiomas and epithelial tumors typically present in the sixth decade of life, whereas bone tumors tend to affect individuals in their third decade of life. Patients often present with a combination of ophthalmological and otorhinolaryngological symptoms, including proptosis, pain, decreased visual acuity, restrictions in motility of the eye, epistaxis, and nasal obstruction. Sarcomas and benign bone and cartilage tumors arise from surrounding structures, whereas carcinomas usually arise from the paranasal sinuses. Surgery is the mainstay of treatment. Depending on the aggressiveness and histology of the tumor, surgery may be combined with radiation and chemotherapy. The prognosis is generally poor, but varies depending on histology and cell origin, size of the tumor, and degree of invasion. Meningiomas and benign bone tumors have the best prognoses. Sinonasal undifferentiated carcinomas, small-cell neuroendocrine carcinomas, osteosarcomas, and rhabdomyosarcomas have poorer prognoses.
Ang Li, Alexander Blandford, Rao V. Chundury, Elias I. Traboulsi, Peter Anderson, Erin Murphy, Sumit Parikh, Julian Perry
We present the case of a 6-year old girl with Leigh syndrome and an orbital rhabdomyosarcoma and describe her clinical course and our multidisciplinary approach to treatment. To our knowledge, this is the first report of rhabdomyosarcoma in a patient with Leigh syndrome.