Whole Exome Sequencing Identifies Somatic Variants in an Oral Composite Hemangioendothelioma Characterized by YAP1-MAML2 Fusion.
C11orf42
FLT1
MT-ND4
Oral composite hemangioendothelioma
PIK3CA
YAP1-MAML2 fusion
Journal
Head and neck pathology
ISSN: 1936-0568
Titre abrégé: Head Neck Pathol
Pays: United States
ID NLM: 101304010
Informations de publication
Date de publication:
Sep 2022
Sep 2022
Historique:
received:
03
09
2021
accepted:
03
11
2021
pubmed:
19
11
2021
medline:
31
8
2022
entrez:
18
11
2021
Statut:
ppublish
Résumé
Composite hemangioendothelioma (CHE) is considered a borderline malignant vascular tumor defined by an admixture of distinct vascular neoplastic components. A 21-year-old female is presented herein with a 1 cm painless mandibular vestibular mass of less than a year duration. The infiltrating tumor was characterized by dilated vascular channels lined by endothelial cells with bland ovoid or round nuclei exhibiting, occasionally, hobnail/matchstick-like arrangement. Intravascular cell proliferations with hyaline globular deposits were also present. Additionally, lobular spindle and epithelioid cell aggregates, as well as slit-like spaces exhibiting a retiform or angiosarcomatous morphology were observed. Intracytoplasmic signet-ring or lipoblast-like vacuolization was also noted. Mitotic activity was exceptionally rare. Vascular spaces and the stroma featured lymphocytes and plasma cells. Neoplastic cells were positive for CD31, CD34, D2-40 and ERG, negative for CAMTA1 and synaptophysin, while type IV collagen highlighted the plasmalemma of most vessels and hyaline globules. Fluorescence in situ hybridization revealed gene rearrangements in both YAP1 and MAML2 genes, in keeping with a YAP1-MAML2 fusion. Whole exome sequencing (WES) identified three missense mutations FLT1 [p.R1016G], PIK3CA [p.H1047L], and C11orf42 [p.A304P] and a mitochondrial frameshift insertion MT-ND4 [c.1107_1108insC; p.P370fs]. These WES results suggest that FLT1 and/or PIK3CA variants may contribute to tumor growth/transformation while the MT-ND4 variant may relate to proliferation, angiogenesis and/or inhibition of apoptosis.
Identifiants
pubmed: 34791601
doi: 10.1007/s12105-021-01393-7
pii: 10.1007/s12105-021-01393-7
pmc: PMC9424484
doi:
Substances chimiques
Biomarkers, Tumor
0
MAML2 protein, human
0
Trans-Activators
0
Transcription Factors
0
YAP-Signaling Proteins
0
YAP1 protein, human
0
Class I Phosphatidylinositol 3-Kinases
EC 2.7.1.137
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
849-856Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA140146
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA217694
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA 140146-01
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA 140146-01
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA217694
Pays : United States
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
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