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Cureus ; 12(1): e6618, 2020 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-32064198


13q syndrome is a chromosomal abnormality in which there is a pathognomic deletion of the genetic material on the long arm (q) of chromosome 13. Phenotypes of this syndrome are variable depending on the location of the deleted segment. The main manifestations of the syndrome include mental retardation, craniofacial dysmorphism, and increased susceptibility to tumors. We report a unique case of recurrent sporadic bilateral retinoblastoma (Rb) in a four-year-old boy carrying 13q (q12q14) interstitial deletion, which was treated successfully via enucleation and chemotherapy. Where most patients with familial Rb receive a single mutated Rb1 allele as the 'first hit', a small number of patients encounter interstitial deletion of the long arm of chromosome 13, resulting in the loss of the tumor suppressor Rb1 gene and presenting as sporadic cases.

J Coll Physicians Surg Pak ; 29(1): 81-83, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30630578


Skeletal muscle involvement in Hodgkin lymphoma is very rare. An 11-year male child presented with stage IV Hodgkin lymphoma and skeletal muscle involvement in right gluteal, piriformis and psoas muscles. He had resistant disease. He achieved remission with 3rd line chemotherapy, EPIC; and successfully underwent high dose chemotherapy with autologous stem cell rescue. The patient is well after 15 months of follow-up. Successful treatment signifies positron emission computed tomography (PET/CT) evaluation and multidisciplinary team discussions in diagnosis and management of a rare Hodgkin lymphoma presentation.

Protocolos de Quimioterapia Combinada Antineoplásica , Doença de Hodgkin/diagnóstico por imagem , Neoplasias Musculares/diagnóstico por imagem , Músculo Esquelético/diagnóstico por imagem , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Medula Óssea/patologia , Criança , Transplante de Células-Tronco Hematopoéticas , Doença de Hodgkin/patologia , Humanos , Masculino , Neoplasias Musculares/patologia , Músculo Esquelético/patologia , Estadiamento de Neoplasias , Transplante Autólogo , Resultado do Tratamento
J Coll Physicians Surg Pak ; 27(8): 502-504, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28903844


OBJECTIVE: To evaluate the frequency of bone marrow involvement with metastatic lung and bone sites in newly-diagnosed pediatric patients with Ewing sarcoma (ES). STUDY DESIGN: An observational study. PLACE AND DURATION OF STUDY: Shaukat Khanum Memorial Cancer Hospital, Lahore, Pakistan, from January 2010 to October 2015. METHODOLOGY: Newly-diagnosed pediatric-age patients with ES were inducted. Ten patients were excluded because bone marrow aspiration/biopsy (BMAB) was not done. Patients'medical records were reviewed for data collection of age, diagnosis, tumor volume, bone marrow diagnosis, metastatic work-up and outcomes. RESULTS: Atotal of 139 patients with median age of 12 years were identified. The median volume of tumors was 529 ml. Eleven patients had bone marrow (BM) disease involvement. Five (45.5%) had bone metastatic disease and 1 (9%) had both pulmonary and bone metastases. Four patients (31.1%) with positive BM had primary limb disease. CONCLUSION: Ewing sarcoma patients with bone metastatic disease have a higher frequency of BM involvement. However, BM can be involved without metastatic disease. BMAB should still be considered at staging for newly diagnosed pediatric patients with localized ES.

Biópsia por Agulha , Medula Óssea/patologia , Neoplasias Ósseas/patologia , Diagnóstico por Imagem/métodos , Sarcoma de Ewing/secundário , Adolescente , Neoplasias Ósseas/cirurgia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Estadiamento de Neoplasias , Segunda Neoplasia Primária/patologia , Paquistão , Estudos Retrospectivos , Sarcoma de Ewing/patologia , Sarcoma de Ewing/cirurgia , Tomografia Computadorizada por Raios X
J Coll Physicians Surg Pak ; 27(7): 450-454, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28818172


This study was conducted to determine the frequency, clinical profile, and short-term outcome of children with hyperleukocytosis at two pediatric oncology centers in Karachi. Of a total 1,045 patients, 13.97% (n=146) patients had hyperleukocytosis. Majority (61.7%, n=90) were under 10 years of age and 76% (n=146) were male. The symptom duration before diagnosis was more than 30 days in 49.3% (n=72). The median WBC count was 181 x109/L(IQR=130.45298.3) and extreme hyperleukocytosis (>200 x109/L) was observed in 44.5% (n=65) patients. Majority (94.5%, n=138) of patients were diagnosed with acute lymphoblastic leukemia. One or more complications developed in 78% (n=114) of cases. Clinical and laboratory tumor lysis syndrome (TLS) was observed in 17.1% (n=25) and 39% (n=57) patients, respectively. Pulmonary and neurological complications related to leukostasis were noted in 9.5% (n=14) and 27.3% (n=40) of cases, respectively. Infectious complications occurred in 23.2% (n=34) patients. The case-specific mortality was 20.5% (n=30). No mortality was related to early complications of hyperleukocytosis.

Leucemia Mieloide Aguda/patologia , Leucocitose/patologia , Doenças do Sistema Nervoso/complicações , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Doença Aguda , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Leucemia Mieloide Aguda/mortalidade , Contagem de Leucócitos , Leucocitose/epidemiologia , Masculino , Doenças do Sistema Nervoso/epidemiologia , Paquistão/epidemiologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/mortalidade