Correlation of clinical and radiological predictors of retinoblastoma with high-risk histopathological features.

INTRODUCTION: Retinoblastoma (RB) tumors having high-risk histopathologic features (HRFs) have an increased risk of metastasis and disease relapse. However, RB has not been studied widely in Pakistan. Therefore, we evaluated the association of clinical, histopathologic, and radiological findings with HRFs in patients with RB who were treated at the Indus Health & Hospital Network in Karachi, Pakistan. METHODS: We enrolled treatment-naïve patients with RB who received upfront enucleation from September 2017 to February 2021. We evaluated enucleated eyes with the Intraocular Classification of Retinoblastoma system and classified HRFs as invasion of the anterior chamber, including the iris and ciliary body, or massive invasion of the choroid, sclera, or optic nerve (postlaminar and/or up to the transection line). RESULTS: Of 117 patients with RB treated at our institution during the study period, 54 received upfront enucleation. Unilateral disease was present in 92.6% of cases. The most frequent disease signs and symptoms included the presence of vitreous seeds (30.6%) and leukocoria (100%), respectively. The most frequent HRFs and radiological findings comprised massive choroidal invasion (15.1%) and anterior chamber enhancement (66.7%), respectively. The majority (62.9%) of patients did not exhibit any HRFs. Female sex, pseudohypopyon, iris neovascularization, buphthalmos, and glaucoma had significant predictive ability for HRF occurrence. CONCLUSION: Pseudohypopyon, iris neovascularization, buphthalmos, and glaucoma are important clinical factors that should be taken into consideration before the management of RB. Early recognition of high-risk histopathological and radiological features is essential for appropriate treatment of RB.

High risk histopathological factors in retinoblastoma in upfront enucleated eyes: An experience from a tertiary care centre of Pakistan.

Background & Objectives: The assessment of histopathological risk factors (HRFs) in retinoblastoma in upfront enucleated eyes is important in deciding treatment protocols. Limited data is available from the developing countries as very few studies were conducted on retinoblastoma. The study aims to report this data from Pakistan. Methods: This cross-sectional study included treatment naïve retinoblastoma patients who underwent upfront enucleation between 2017 to 2021. Various tumor characteristics i.e. laterality, size, histologic grade, anaplasia grade, growth pattern, extent and length of optic nerve invasion, pathologic staging, tumor involvement of ocular structures were assessed. High-risk factors such as involvement of anterior chamber, choroidal, scleral, extrascleral, and optic nerve were also noted. Results: A total number of 54 patients were enrolled, out of which 53.7% were females while remaining were males. Median age at presentation was 24 months. Unilateral tumor was seen in 92.6% cases. Most frequent histologic grade was G2 (64.7%) and moderate anaplasia was observed in 59.2% cases. Vitreous involvement was seen in (86.5%). Pathologic staging of most of the tumors was pT1 (39.2%). Assessment of high-risk factors revealed that optic nerve involvement (35.1%) was the most common finding with retrolaminar tumor invasion seen in 75% cases. Choroidal invasion (≤3mm) was seen in 55.6% of patients. Limited involvement of anterior chamber (3.8%), sclera (7.4%), and extrascleral (3.8%) tissue was also observed. Conclusion: The presence of high risk histopathological factors in enucleated eyes diagnosed with retinoblastoma are known to have a profound impact on the risk stratification as well as decision of future treatment plan.

Sclerosing angiomatoid nodular transformation of spleen in a 8-year old girl.

Sclerosing angiomatoid nodular transformation of spleen is a rare, benign vascular lesion with an uncertain pathogenesis. It has been described as a separate entity through specific histopathological characters. It is usually asymptomatic, occurring commonly in adult females. Only a few cases of paediatric cases have been reported which have been commonly symptomatic. This disease has excellent prognosis after splenectomy, which is the only treatment. We report the case of an eight-year-old girl who presented with distended abdomen and history of bleeding from the nose following a road traffic accident. Examination revealed stunted height, decreased weight, tachypnoea, tachycardia, anaemia and a firm, massive spleen. Lab investigations further revealed microcytic anaemia, thrombocytopenia, deranged platelet profile and low vitamin B12 and folate levels. Computed tomography confirmed enlarged spleen. Therefore, a diagnostic biopsy was planned which confirmed sclerosing angiomatoid nodular transformation of spleen. Splenectomy was successfully performed soon after and the child is now healthy with no remissions of previous symptoms.

Retinoblastoma Presentation and Survival: A four-year analysis from a tertiary care hospital.

OBJECTIVE: To study the clinical presentation, treatment, and outcome of Retinoblastoma (Rb) in a tertiary care hospital of Pakistan. METHODS: A retrospective study was conducted in the Department of Pediatric Hematology Oncology, The Indus Hospital (TIH), Karachi from 1st June 2013 to 30th June 2017. Data including patients' demography, clinical symptoms and duration, laterality, extent of the tumor, type of treatment, relapse, and final outcome were extracted and evaluated with respect to progression and survival. RESULTS: A total of 93 patients were included; 34.4% were boys. The median age at presentation was 30 months. Leukocoria was the commonest symptom (61.3%), followed by proptosis (37.6%). Unilateral disease was seen in 59.1%, extraocular tumors in 43.5% and metastasis in 28.1%. Enucleation was performed on 46.2%, chemotherapy given to 80.6% and external beam radiation therapy to 29.3% patients. CONCLUSION: Delayed presentation, recurrent disease, extraocular disease and metastasis on presentation were factors affecting outcome in our cohort. Awareness about the early warning signs and symptoms in both public and health professionals for early recognition and timely management are mandatory to decrease morbidity and mortality.

Outcomes of Group D Retinoblastoma With Resistant Vitreous Seeds After Integration of Intravitreal Chemotherapy to the Treatment Protocol.

INTRODUCTION: A major therapeutic challenge in the salvage of Group D retinoblastoma eyes is the poor response of vitreous seeds to intravenous chemotherapy. The novel use of intravitreal melphalan has greatly impacted the salvage of such eyes; however, concerns regarding its safety and toxicity still exist, particularly in dark-eyed children. This study aims to evaluate our experience and determine the visual and anatomical outcomes of intravitreal melphalan in group D retinoblastoma with resistant vitreous seeds. METHOD: All patients, from August 2018 to February 2020, with group D retinoblastoma harboring vitreous seeds refractory to first-line chemo reduction regimen with vincristine, etoposide, and carboplatin for six cycles plus local consolidation with thermotherapy or cryotherapy were evaluated. Fifteen eyes of 15 patients that fulfilled the eligibility criteria and received intravitreal melphalan were retrospectively reviewed for demographics, iris color, treatments offered, seed inactivation, globe survival, visual acuity, and complications. RESULT: Mean age at presentation was 22 months for bilateral disease and 36 months for unilateral disease. A total of 77 injections were administered (mean, five injections per eye) with doses ranging from 20 µg to 30 µg. Complete seed control was seen in 13 of 15 (87%) eyes, and globe salvage was possible in 11 of 15 (73%) eyes. Eyes with macular tumor had visual acuity ranging from 6/36 (0.8) to 6/60 (1.0). SIx of eight eyes (75%) with extra macular tumors had vision 0.4 or better. CONCLUSION: Intravitreal melphalan seems like a promising treatment modality in group D retinoblastoma with resistant vitreous seeds having dark eyes. Amblyopia therapy may play an important role in attaining maximal visual benefits in these children.

Awareness among parents of children with thalassemia major.

OBJECTIVE: To determine the awareness among parents of children with thalassaemia major (TM) regarding the disease. METHODS: This (cross sectional) study was conducted at Paediatric OPD of Civil Hospital Karachi from May 2007 to October 2007. Parents of thalassaemic children presenting to out patient department, receiving blood transfusion from Patient Welfare Association (PWA) were interviewed using a pre designed questionnaire. Informed verbal consent was taken from the parents. Questions regarding duration of illness, awareness regarding screening of blood, mode of transmission of disease, prevention and treatment were asked. RESULTS: A total of 120 care takers were questioned. Majority was of low socioeconomic class and 66.7% were illiterate. Although nearly 100% of the patients were receiving blood transfusions either from PWA or Hussaini blood bank or both, only 15.8% knew the importance of blood screening. Knowledge regarding desferrol was present in 55% of the patient's parents but only 10.9% were receiving it adequately. Only 15% knew that thalassaemia is an inherited disorder and family screening of the siblings and antenatal diagnosis in subsequent pregnancies was done in 5.8% and 5% respectively. CONCLUSION: Awareness of parents regarding the disease was inadequate. General public and parents of thalassemic children should be sensitized in this regard.