S De Francesco

Is CT still useful in the study protocol of retinoblastoma

BACKGROUND AND PURPOSE: Intralesional calcium deposition is considered a key element for differentiating retinoblastoma from simulating lesions. Our aim was to assess whether MR imaging associated with ophthalmologic investigations (ophthalmoscopy and ultrasonography) could replace CT in the detection of diagnostic intralesional calcifications in retinoblastoma. MATERIALS AND METHODS: Ophthalmoscopic findings, MR images, CT scans, and histologic examination of 28 retinoblastomas from 23 consecutive children (11 males, 12 females; age range at admission, 1–35 months; mean age, 11 months; median age, 9 months) were retrospectively evaluated. Ultrasonography was performed in 18 patients with 21 retinoblastomas. MR imaging included T2-weighted spin-echo and gradient-echo images, fluid-attenuated inversion recovery images, and T1-weighted spin-echo images with and without contrast enhancement. Clinical data were integrated with MR imaging data to evaluate the utility of both approaches to discover calcifications; particularly, a correlation between intralesional signal-intensity void spots on MR imaging and hyperattenuating areas on CT scans was performed. RESULTS: Ophthalmoscopy detected calcifications in 12 of 28 eyes (42.85%). Ultrasonography detected calcifications in 20 of 21 eyes (95.23%). CT showed hyperattenuating intralesional areas consistent with calcifications in 27 of 28 eyes (96.42%). MR imaging showed intralesional signal-intensity void spots in 25 of 28 eyes (89.28%). All spots detected with MR imaging matched the presence of calcifications on CT scans. Gradient-echo T2*-weighted and fast spin-echo T2-weighted images showed the highest degree of correlation with CT. When we put together ophthalmoscopy, ultrasonography, and MR imaging data, no calcifications detected on CT were missed, and the differential diagnosis was thorough. CONCLUSIONS: A combination of clinical data and MR images may remove potentially harmful ionizing radiation from the study protocol of retinoblastoma.

Mortality from second tumour among long-term survivors of retinoblastoma: a retrospective analysis of the Italian retinoblastoma registry

Survivors of retinoblastoma (Rb) are at high risk of dying from second malignant tumour. The occurrence of second malignant neoplasm (SMN) and related mortality in a cohort of 1111 cases from the Italian Retinoblastoma Registry was analysed, considering the possible role of both genetic and iatrogenic causes. Rb patients had a greater than 10-fold excess in overall mortality compared with the general population (standardized mortality ratio (SMR) 10.73, 95% CI 9.00–12.80). Their excess risk attributable to cancers other than Rb was 14.93 95% CI 10.38–21.49). Survivors of hereditary Rb had an SMR for all causes of 16.25 (95% CI 13.20–20.00), whereas their SMR for all cancers was 25.72 (95% CI 17.38–38.07). Survivors of unilateral sporadic Rb had an SMR of 4.12 from all cancers (95% CI 1.55–10.98) and a much higher excess for overall mortality (SMR 13.34, 95% CI 10.74–16.56). As expected, survivors of hereditary Rb had higher mortality from cancers of the bone (SMR 391.90, 95% CI 203.90–753.20) and soft tissue (SMR 453.00, 95% CI 203.50–1008.40), small intestine (SMR 1375.50, 95% CI 344.00–5499.70), nasal cavity (SMR 13.71, 95% CI 1.93–97.35) and cancers of the brain and central nervous system (SMR 41.14, 95% CI 13.2–127.55)

A case of coloboma in a newborn to a woman taking mycophenolate mofetil in pregnancy after kidney transplantation.

Recently, mycophenolate mofetil (MMF) has been introduced in the immunosuppressive strategy after kidney transplantation. Recently, the existence of a MMF associated embriopathy has been hypothesized, namely, multiple craniofacial malformations. Only 1 report has described chorioretinal coloboma. We report a case of woman who used MMF throughout pregnancy after kidney transplantation. Her newborn developed coloboma of the right eye associated with an ocular cyst without any other malformation. The other drugs used by our patient are not considered teratogenic. Therefore, it seems reasonable to conclude a causal relationship between MMF and the malformation observed in this newborn.

Hemodynamic and Anatomic Variations Require an Adaptable Approach during Intra-Arterial Chemotherapy for Intraocular Retinoblastoma: Alternative Routes, Strategies, and Follow-Up

BACKGROUND AND PURPOSE: Intra-arterial chemotherapy for retinoblastoma is not always a straightforward procedure, and it may require an adaptable approach. This study illustrates strategies used when the ophthalmic artery is difficult to catheterize or not visible, and it ascertains the effectiveness and safety of these strategies. MATERIALS AND METHODS: A retrospective study was performed on a series of 108 eyes affected by intraocular retinoblastoma and selected for intra-arterial chemotherapy (follow-up range, 6–82 months). We recognized 3 different patterns of drug delivery: a fixed pattern through the ophthalmic artery, a fixed pattern through branches of the external carotid artery, and a variable pattern through either the ophthalmic or the external carotid artery. RESULTS: We performed 448 sessions of intra-arterial chemotherapy, 83.70% of them through the ophthalmic artery and 16.29% via the external carotid artery. In 24.52% of eyes, the procedure was performed at least once through branches of the external carotid artery. In 73 eyes, the pattern of drug delivery was fixed through the ophthalmic artery; for 9 eyes, it was fixed through branches of the external carotid artery; and for 17 eyes, the pattern was variable. Statistical analysis did not show any significant difference in the clinical outcome of the eyes (remission versus enucleation) treated with different patterns of drug delivery. Adverse events could not be correlated with any particular pattern. CONCLUSIONS: Alternative routes of intra-arterial chemotherapy for intraocular retinoblastoma appear in the short term as effective and safe as the traditional drug infusion through the ophthalmic artery.

Pleomorphic Adenoma of the Lacrimal Gland in an 18-Year-Old Girl Irradiated for Bilateral Retinoblastoma

Purpose: To report a case of pleomorphic adenoma of the lacrimal gland following irradiation for bilateral retinoblastoma. Materials and Methods: Case report. A 4-month-old girl, with bilateral retinoblastoma, underwent enucleation of the right eye, systemic chemotherapy and bilateral external beam irradiation with a lateral field. The right anophthalmic socket (because of infiltration of the optic nerve) and the left eye (for relapse) were irradiated;. 17 years later, she developed a mass in the superotemporal quadrant of the left orbit. The mass was completely excised. Results: Pleomorphic adenoma is rare in children and teenagers; it usually presents as a painless, slow growing mass in healthy adults. In this case, it developed as a second primary tumor after irradiation for retinoblastoma.

Phthisis bulbi and buphthalmos as presenting signs of retinoblastoma: a report of two cases and literature review.

Purpose To report two cases of bilateral retinoblastoma (RB) with unusual presentations. Methods The medical records of 321 patients from the Retinoblastoma Referral Center in Siena were reviewed. A total of 111 patients had bilateral RB, 2 of them presenting with phthisis bulbi and buphthalmos. Both patients underwent bilateral enucleation. Clinical features, imaging studies, and histopathology were reviewed. Results These 2 cases represent 0.62% (2/321) in our series. Histopathology did not reveal viable tumor cells in the phthisical eyes; in both buphthalmic eyes the tumor was active, infiltrating the choroid and optic nerve. Conclusions Phthisis bulbi and buphthalmos are unusual presenting signs of RB. This very rare combination of these two signs in different eyes of the same patient is probably due to a delay in diagnosis.

Direct intraarterial (ophthalmic artery) chemotherapy for advanced intraocular retinoblastoma: Five years experience

Purpose To report five years of conservative treatment for advanced retinoblastoma with the direct intra-arterial-ophthalmic artery infusion of Melphalan alone or Melphalan and Topotecan. Methods 75 children (82 eyes) with advanced retinoblastoma (Stage D-E/VA –VB) were entered in phase two of one center open study-approved protocol of ophthalmic artery infusion (Italian intra-arterial protocol, approved by the Ethic Commettee – University Hospital of Siena). Seven cases have been treated bilaterally. 40 eyes were first diagnosis (naive) and 42 were relapses following chemotherapy and focal therapy and/or radiotherapy. Results Cannulation of the ophthalmic artery was performed by a femoral artery approach using microcatheters (magic 1.5) while the children were under general anesthesia and anticoagulated. Chemotherapy (Melphalan alone or Melphalan and Topotecan) was infused into the artery over a 30-minute period (dose of 3-7 mg of Melphalan and 0.3-0.4 mg of Topotecan, according to the age and size of the globe). Local and systemic toxicity have been evaluated and documented. Conclusion 75 children (82 eyes) with advanced retinoblastoma were eligible for the intra-arterial Italian Protocol. The 65.8% of all treated eyes is in complete remission. Superselective chemotherapy delivered through the ophthalmic artery can avoid enucleation, primary radiation or abuse of systemic chemotherapy.

Massive anterior chamber involvement in advanced retinoblastoma following intra-arterial chemotherapy

Purpose to describe retinoblastoma massive anterior chamber involvement after treatment with intra‐arterial chemotherapy. This condition represents an extremely poor prognostic sign for ocular preservation in patients with retinoblastoma. Therefore, anterior chamber retinoblastoma should be considered an absolute indication for enucleation.

Iris tuberculous granuloma simulating medulloepithelioma

Purpose Pediatric ocular granuloma is a rare condition which may result from several causes including trauma, inflammatory diseases, or infectious agents such as fungi, viruses, or mycobacteria. The purpose of this case report is to increase the knowledge about the ophthalmic clinical picture, magnetic resonance imaging findings, histological pattern of a rare case of iris tubercular granuloma occurring in a 4‐year‐old boy.

Proteomic analysis of aqueous humor in retinoblastoma: a preliminary approach

Purpose Compare the basic protein composition of the aqueous humor from retinoblastoma (RTB) patients with aqueous humor from patients with cataract who served as controls.