Blog - INTERNET MÉDICA

Retinoblastoma 2022

Por Paulo Leite 31/01/2022

O retinoblastoma é um tumor maligno ocular com mais frequência na infância e pode causar cegueira e morte.

possui uma incidência de um a cada 15 ou 30.000 nascidos

– O retinoblastoma possui uma incidência de um a cada 15 ou 30.000 nascidos vivos, aproximadamente 3% em crianças menores de dois anos de idade e 5% em crianças maiores de cinco anos de idade.

– Cerca de 25% apresentam tumor bilateral (hereditário); outros 15% em processo unilateral e hereditário; e 60% com doença unilateral e não hereditária.

■ Recent advancements in the management of retinoblastoma and uveal melanoma

Amy C Schefler, Ryan S Kim

Fac Rev. 2021; 10: 51.

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8204763/

■ Changes in treatment patterns and globe salvage rate of advanced retinoblastoma in Korea: efficacy of intra-arterial chemotherapy

Dong Hyun Lee, Jung Woo Han, Seung Min Hahn et al

J Clin Med. 2021 Nov; 10(22): 5421

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8619482/

■ At what age could screening for familial retinoblastoma be discontined? A systematic review

Milo van Hoefen Wijsard, Saskia H. Serné, René H. Otten et al

Cancers (Basel) 2021 Apr; 13(8): 1942

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8072927/

■ Current indications of secondary enucleation in retinoblastoma management: a pósiton paper on Behalf of the European Retinoblastoma Group

Christina Stathopoulos, Livia Lumbroso-Le Rouic, Annette C. Moll et al

Cancers (Basel) 2021 Jul; 13(14): 3392

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8303810/

■ Introduction of a variant classification system for analysis of genotype-phenotype relationship in heritable retinoblastoma

Isabel Hülsenbeck, Mirjam Frank, Eva Biewald,et al

Cancers (Basel) 2021 Apr; 13(7): 1605

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8037437/

■ Whole-genome sequencing of retinoblastoma reveals the diversity of rearrangements disrupting RB1 and uncovers a treatment-related mutational signatures

Helen R. Davies, Kevin D. Broad, Zerrin Onadim et al

Cancers (Basel) 2021 Feb; 13(4): 754

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7918943/

■ Qumioterapia intrarterial para el manejo del retinoblastoma

J C Gómez-Veja, M I Ocampo-Navia, J José Botero-Trujillo et al

Univ Med 2021, vol 62 (4)

http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S2011-08392021000400007&lng=en&nrm=iso&tlng=es

■ Retrato de familiares acompanhantes de crianças e adolescentes atendidos por retinoblastoma no Brasil: Estudo transversal

M I P Messias, G S Bochi, A N F da Silva et al

Research, Society & Development 2021, vol 10 (5)

https://rsdjournal.org/index.php/rsd/article/view/15096/13503

■ Long-term of subsequente cancer incidence among hereditary and nonhereditary retinoblastoma survivors

Sara J. Schonfeld, Ruth A. Kleinerman, David H. Abramson et al

Br J Cancer. 2021 Mar 30; 124(7): 1312–1319

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8007574/

■ Benign tumors in long-term survivors of retinoblastoma

Milo van Hoefen Wijsard, Sara J. Schonfeld, Flora E. van Leeuwen et al

Cancers (Basel) 2021 Apr; 13(8): 1773

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8068196/

■ Subsequent malignant neoplasms in retinoblastoma survivors

Armida W. M. Fabius, Milo van Hoefen Wijsard, Flora E. van Leeuwen, Annette C. Moll

Cancers (Basel) 2021 Mar; 13(6): 1200

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8001190/

■ Parenteral occupation and risk of chilhood retinoblastoma in Denmark

Negar Omidakhsh, Johnni Hansen, Beate Ritz, et al

J Occup Environ Med. 2021 Mar 1; 63(3): 256–261

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8259454/

■ The impact of cell-free DNA analysis on the management of retinoblastoma

Amy Gerrish, Helen Jenkinson, Trevor Cole

Cancers (Basel) 2021 Apr; 13(7): 157

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8037190/

■ Multi-functionalized nanomaterials and nanoparticles for diagnosis and treatment of retinoblastoma

Rabia Arshad, Mahmood Barani, Abbas Rahdar,et al

Biosensors (Basel) 2021 Apr; 11(4): 9

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8066896/

■ A hign-risk retinoblastoma subtype with stmnes features, dedifferentiated cone states and neuronal/ganglion cell gene expression.

Jing Liu, Daniela Ottaviani, Meriem Sefta et al

Nat Commun. 2021; 12: 5578

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8458383/

■ Response criteria for intraocular retinoblastoma: RB-RECIST

Jesse L. Berry, Francis L. Munier, Brenda L. Gallie et al

Pediatr Blood Cancer. 2021 May; 68(5): e28964

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8049511/

■ Retinoblastoma from human stem cell-derived retinal organoids

Jackie L. Norrie, Anjana Nityanandam, Karen Lai, et al

Nat Commun. 2021; 12: 4535

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8316454/

■ A single arm study of systemic and sub-Tenon chemotherapy for groups C and D intraocular retinoblastoma, a Children´s Oncology Group Study (ARET 0231)

Rima F. Jubran, Judith G. Villablanca, Mark Krailo et al

Pediatr Blood Cancer. 2020 Sep; 67(9): e28502

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7857974/

■ Dr Paulo Fernando Leite

Cardiologia/Prevenção Cardiovascular

Consultório: Rua Padre Rolim 815/sala 601 – Belo Horizonte/MG/Brasil

Tel: 33245518

CRMMG: 7026

Email: pfleite1873@gmail.com

Blog Internet Médica – www.internetmedica.com.br

Data: janeiro 2022

Síndrome PHACE (PHACE Syndrome)

Por Paulo Leite 27/01/2022

– A síndrome PHACE é um distúrbio raro da vasculogênese que ocorre durante o primeiro trimestre da gravidez. O distúrbio comumente se apresenta com anomalias cerebrais da fossa posterior e coarctação da aorta/anomalias arteriais e é predominantemente observado em pacientes do sexo feminino. A síndrome PHACE(S) é também uma síndrome neurocutânea a ser suspeitada quando são observados hemangiomas cutâneos extensos que afetam o rosto. Os β-bloqueadores são a primeira linha no tratamento dos hemangiomas cutâneos, mas nesses pacientes, se estabelecidos, é essencial a triagem prévia de possíveis malformações cerebrovasculares e cardíacas. A sigla PHACE significa a associação de malformações da fossa posterior, hemangiomas cervicofaciais, anomalias arteriais, coarctação e anomalias oculares.

■ PHACE syndrome in children: two case reports

kaoutar Imrani, Siham El Haddad, Nazik Allali, Latifa Chat

Radiol Case Rep. 2021 Dec; 16(12): 3882–3886

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8523872/

■ PHACE syndrome presenting with retinal degeneration, cortical dysplasia, microphthalmia, and atrial septal defect. In a South Asian Boy

Kavinda Dayasiri, Vijayakumary Thadchanamoorthy

Cureus. 2021 Jan; 13(1): e12928

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7907719/

■ Facing PHACE twenty-five Years later

M T Braun, E F Mathes, D H Siegel et al

Journal of Vascular Anomalies 2021, vol 2 (4): e027

https://journals.lww.com/jova/Fulltext/2021/12000/Facing_PHACE_Twenty_five_Years_Later__Review_and.2.aspx

■ Arterial spin-labeling perfusions for PHACE syndrome

M M Mamlouk, A Vossough, L Caschera et al

AJNR Am J Neuroradiol 2021, vol 42 (1): 173-177

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7814806/

■ Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection

Laura B Eisenmenger, Leonardo A Rivera-Rivera, Kevin M Johnson, Beth A Drolet

BMJ Case Rep. 2020; 13(9): e23599

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7490943/

■ Dental root abnormalities in four children with PHACE syndrome

MJ Youssef, DH Siegel, YE Chiu, BA Drolet, BD Hodgson

Pediatr Dermatol. 2019 Jul; 36(4): 505–508

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6620126/

■ Posible síndrome de PHACES (S)

M I J Castillo, F J M Rodríguez, R M Masot

Rev Pediatr Aten Primaria 2017, vol 19 (73)

https://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S1139-76322017000100007

■ PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Anita Rotter, Luciana Paula Samorano, Maria Cecília Rivitti-Machado et at

An Bras Dermatol. 2018 May-Jun; 93(3): 405–411

■ Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome

Jack E. Steiner, Garrett N. McCoy, Christopher P. Hess et al

Am J Med Genet A. 2018 Jan; 176(1): 48–55

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5844264/

■ Prenatal risk factors for PHACE syndrome: a study using the PHACE syndrome international clinical registry and genetics repositor

Joy Wan, Jack Steiner, Eulalia Baselga et al

J Pediatr. 2017 Nov; 190: 275–27

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5690843/

■ PHACE syndrome: consensus-derived diagnosis and care recommendations

Maria C. Garzon, Leon G. Epstein, Geoffrey L. Heyer et al

J Pediatr. 2016 Nov; 178: 24–33.e2

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6599593/

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6001075/

■ Prevalence and clinical characteristics of headaches in PHACE syndrome

JiaDe Yu, Dawn H. Siegel, Beth A. Drolet,et al

J Child Neurol. 2016 Mar; 31(4): 468–473

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6457900/

■ PHACE syndrome misdiagnosed as a port-wine stain

Jason Thomson, Aina Greig, Claire Lloyd, Danny Morrison, Carsten Flohr

BMJ Case Rep. 2015; 2015: bcr2015209889

https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4513526/

■ Complex aortic coarctation and PHACE syndrome

F Prada, C Mortera, J Bartrons et al

Revista Española de Cardiologia 2010, vol 63 (11): 1367-1370

https://www.revespcardiol.org/es-complex-aortic-coarctation-and-phace-articulo-13187973