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NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma
A 2,5-year-old girl presented vomiting episodes associated with severe motor delay, macrocephaly, and distal hypotonia. Brain MRI showed hydrocephalus and a non-metastatic lesion in the posterior fossa. A pre-operative ECG showed isodifasic T waves in leads V4R and V1, follow-up was recommended. His...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165183/ http://dx.doi.org/10.1093/neuonc/noac079.473 |
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author | Piccolo, Gianluca Verrico, Antonio Trocchio, Gianluca Derchi, Maria Siboldi, Alessandra Stagnaro, Nicola Crocco, Marco Giannatale, Angela Di Ghiorzo, Paola Milanaccio, Claudia Garrè, Maria Luisa |
author_facet | Piccolo, Gianluca Verrico, Antonio Trocchio, Gianluca Derchi, Maria Siboldi, Alessandra Stagnaro, Nicola Crocco, Marco Giannatale, Angela Di Ghiorzo, Paola Milanaccio, Claudia Garrè, Maria Luisa |
author_sort | Piccolo, Gianluca |
collection | PubMed |
description | A 2,5-year-old girl presented vomiting episodes associated with severe motor delay, macrocephaly, and distal hypotonia. Brain MRI showed hydrocephalus and a non-metastatic lesion in the posterior fossa. A pre-operative ECG showed isodifasic T waves in leads V4R and V1, follow-up was recommended. Histology after gross total resection was consistent with Desmoplastic/Nodular Medulloblastoma. At chest X-rays a bifid rib was noted, leading to the diagnosis of Gorlin syndrome (GS; c.3306 + 1G>T in PTCH1). During chemotherapy, ventricular tachycardia (VT) occurred, requiring synchronized electrical cardioversion. An echocardiogram revealed an echogenic mass of the left ventricle free wall, but normal coronaries and ventricular function. Cardiac MRI (CMR) confirmed a 21x40x38mm mass, with eccentric development and intense homogeneous enhancement, indicative of cardiac fibroma (CF). A computed tomography excluded local calcifications. Therapy with amiodarone and beta-blocker was initiated. TREATMENT STRATEGY: priority to chemotherapy vs cardiac surgery; full-dose chemotherapy, preferring drugs with minor cardiotoxicity; administration in ICU under continuous vital parameters and ECG-monitoring. Other three VTs occurred during treatment or anesthesia, resolved after electrical cardioversion (unsuccessful attempts with i.v. adenosine and amiodarone). Lacking specific guidelines concerning CF in GS, a wait-and-see approach was preferred with close tumor follow-up and regular cardiological assessment (ECG, stress-test, Holter monitoring, CMR). No further arrhythmias were recorded in a 10-year-long follow-up and CMR confirmed CF stability. Medulloblastoma has never recurred. PTCH1 variants are rarely associated with medulloblastoma (<2%). Only 3–5% of GS present CF, responsible for arrhythmias in 32%. Being non-regressing, total surgical resection is usually performed (without recurrence), with a 27-year-long median survival. When surgery risk/benefit ratio is not favorable or the patient is paucisymptomatic, the treatment plan remains unclear; probably, a conservative approach under a strict cardiological follow-up can be reasonable. In young children with syndromic medulloblastoma, a routine echocardiogram should be performed to rule out CF. |
format | Online Article Text |
id | pubmed-9165183 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-91651832022-06-05 NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma Piccolo, Gianluca Verrico, Antonio Trocchio, Gianluca Derchi, Maria Siboldi, Alessandra Stagnaro, Nicola Crocco, Marco Giannatale, Angela Di Ghiorzo, Paola Milanaccio, Claudia Garrè, Maria Luisa Neuro Oncol Neurofibromatosis and other Predisposition Syndromes A 2,5-year-old girl presented vomiting episodes associated with severe motor delay, macrocephaly, and distal hypotonia. Brain MRI showed hydrocephalus and a non-metastatic lesion in the posterior fossa. A pre-operative ECG showed isodifasic T waves in leads V4R and V1, follow-up was recommended. Histology after gross total resection was consistent with Desmoplastic/Nodular Medulloblastoma. At chest X-rays a bifid rib was noted, leading to the diagnosis of Gorlin syndrome (GS; c.3306 + 1G>T in PTCH1). During chemotherapy, ventricular tachycardia (VT) occurred, requiring synchronized electrical cardioversion. An echocardiogram revealed an echogenic mass of the left ventricle free wall, but normal coronaries and ventricular function. Cardiac MRI (CMR) confirmed a 21x40x38mm mass, with eccentric development and intense homogeneous enhancement, indicative of cardiac fibroma (CF). A computed tomography excluded local calcifications. Therapy with amiodarone and beta-blocker was initiated. TREATMENT STRATEGY: priority to chemotherapy vs cardiac surgery; full-dose chemotherapy, preferring drugs with minor cardiotoxicity; administration in ICU under continuous vital parameters and ECG-monitoring. Other three VTs occurred during treatment or anesthesia, resolved after electrical cardioversion (unsuccessful attempts with i.v. adenosine and amiodarone). Lacking specific guidelines concerning CF in GS, a wait-and-see approach was preferred with close tumor follow-up and regular cardiological assessment (ECG, stress-test, Holter monitoring, CMR). No further arrhythmias were recorded in a 10-year-long follow-up and CMR confirmed CF stability. Medulloblastoma has never recurred. PTCH1 variants are rarely associated with medulloblastoma (<2%). Only 3–5% of GS present CF, responsible for arrhythmias in 32%. Being non-regressing, total surgical resection is usually performed (without recurrence), with a 27-year-long median survival. When surgery risk/benefit ratio is not favorable or the patient is paucisymptomatic, the treatment plan remains unclear; probably, a conservative approach under a strict cardiological follow-up can be reasonable. In young children with syndromic medulloblastoma, a routine echocardiogram should be performed to rule out CF. Oxford University Press 2022-06-03 /pmc/articles/PMC9165183/ http://dx.doi.org/10.1093/neuonc/noac079.473 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of the Society for Neuro-Oncology. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Neurofibromatosis and other Predisposition Syndromes Piccolo, Gianluca Verrico, Antonio Trocchio, Gianluca Derchi, Maria Siboldi, Alessandra Stagnaro, Nicola Crocco, Marco Giannatale, Angela Di Ghiorzo, Paola Milanaccio, Claudia Garrè, Maria Luisa NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title | NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title_full | NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title_fullStr | NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title_full_unstemmed | NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title_short | NFB-09. Treatment of cardiac fibroma in aPTCH1-mutated Gorlin syndrome with medulloblastoma |
title_sort | nfb-09. treatment of cardiac fibroma in aptch1-mutated gorlin syndrome with medulloblastoma |
topic | Neurofibromatosis and other Predisposition Syndromes |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9165183/ http://dx.doi.org/10.1093/neuonc/noac079.473 |
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