A primary DICER1-sarcoma with KRAS and TP53 mutations in a child with suspected ECCL.
DICER1 syndrome
DICER1-sarcoma
ECCL
KRAS
Journal
Brain tumor pathology
ISSN: 1861-387X
Titre abrégé: Brain Tumor Pathol
Pays: Japan
ID NLM: 9716507
Informations de publication
Date de publication:
Oct 2022
Oct 2022
Historique:
received:
06
04
2022
accepted:
16
05
2022
pubmed:
7
6
2022
medline:
30
9
2022
entrez:
6
6
2022
Statut:
ppublish
Résumé
A child had been followed since infancy by our multi-disciplinary neuro-oncology clinic with annual magnetic resonance imaging (MRI) under the presumed diagnosis of encephalocraniocutaneous lipomatosis (ECCL), with clinical features including nevus psiloliparus, scalp lipoma, nodular skin tag on and coloboma of the eyelid, cortical atrophy and meningeal angiomatosis. At the age of 4, she was found to have a large temporoparietal lesion causing elevated intracranial pressure requiring surgical resection. Histopathological exam of the tumor was suggestive of an intracranial sarcoma. Sequencing analysis of the tumor revealed mutations in DICER1, KRAS and TP53. Subsequent germline testing confirmed DICER1 syndrome and revealed an insignificant FGFR1 variant at a low frequency. Methylation profile of the tumor showed the tumor clustered most closely with sarcoma (rhabdomyosarcoma-like), confirming this tumor to be a primary DICER1-sarcoma. Compared to the previously reported cases, our unique case of primary DICER1-sarcoma also demonstrated neurofilament and chromogranin positivity, and genomic instability with loss of chromosome 4p, 4q, 8p, 11p, and 19p, as well as gains in chromosome 7p, 9p, 9q, 13q, and 15q on copy variant analysis. The detailed sequencing and methylation information discovered in this unique case of DICER1-sarcoma will hopefully help further our understanding of this rare and emerging entity.
Identifiants
pubmed: 35668302
doi: 10.1007/s10014-022-00437-2
pii: 10.1007/s10014-022-00437-2
doi:
Substances chimiques
Chromogranins
0
KRAS protein, human
0
TP53 protein, human
0
Tumor Suppressor Protein p53
0
DICER1 protein, human
EC 3.1.26.3
Ribonuclease III
EC 3.1.26.3
DEAD-box RNA Helicases
EC 3.6.4.13
Proto-Oncogene Proteins p21(ras)
EC 3.6.5.2
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
225-231Informations de copyright
© 2022. The Author(s), under exclusive licence to The Japan Society of Brain Tumor Pathology.
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