Epithelioid Soft Tissue Neoplasm of the Soft Palate with a
PTCH1-GLI1 Fusion: A Case Report and Review of the Literature

J 2022

Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature

KLUBICKOVA, Natalie, Zdenek KINKOR, Michael MICHAL, Martina BANECKOVA, Veronika HAJKOVA et. al.

Základní údaje

Originální název

Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature

Autoři

KLUBICKOVA, Natalie (203 Česká republika, garant), Zdenek KINKOR (203 Česká republika), Michael MICHAL (203 Česká republika), Martina BANECKOVA (203 Česká republika), Veronika HAJKOVA (203 Česká republika), Jaroslav MICHALEK (203 Česká republika), Richard PINK (203 Česká republika), Zdeněk DVOŘÁK (203 Česká republika, domácí), Michal MICHAL (203 Česká republika), Ilmo LEIVO a Alena SKALOVA (203 Česká republika)

Vydání

HEAD & NECK PATHOLOGY, NEW YORK, SPRINGER, 2022, 1936-055X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.100

Kód RIV

RIV/00216224:14110/22:00125394

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1007/s12105-021-01388-4

UT WoS

000707690400005

Klíčová slova anglicky

Epithelioid soft tissue neoplasm; Oral cavity; PTCH1-GLI1 gene fusion; Soft palate; S100 protein; Hedgehog signaling pathway

Štítky

14110128, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 3. 4. 2023 08:55, Mgr. Tereza Miškechová

Anotace

V originále

GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases.

Citovat

KLUBICKOVA, Natalie, Zdenek KINKOR, Michael MICHAL, Martina BANECKOVA, Veronika HAJKOVA, Jaroslav MICHALEK, Richard PINK, Zdeněk DVOŘÁK, Michal MICHAL, Ilmo LEIVO a Alena SKALOVA. Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature. HEAD & NECK PATHOLOGY. NEW YORK: SPRINGER, 2022, roč. 16, č. 2, s. 621-630. ISSN 1936-055X. Dostupné z: https://dx.doi.org/10.1007/s12105-021-01388-4.

@article{1834760,
   author = {Klubickova, Natalie and Kinkor, Zdenek and Michal, Michael and Baneckova, Martina and Hajkova, Veronika and Michalek, Jaroslav and Pink, Richard and Dvořák, Zdeněk and Michal, Michal and Leivo, Ilmo and Skalova, Alena},
   article_location = {NEW YORK},
   article_number = {2},
   doi = {http://dx.doi.org/10.1007/s12105-021-01388-4},
   keywords = {Epithelioid soft tissue neoplasm; Oral cavity; PTCH1-GLI1 gene fusion; Soft palate; S100 protein; Hedgehog signaling pathway},
   language = {eng},
   issn = {1936-055X},
   journal = {HEAD & NECK PATHOLOGY},
   title = {Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature},
   url = {https://link.springer.com/article/10.1007/s12105-021-01388-4},
   volume = {16},
   year = {2022}
}

TY  - JOUR
ID  - 1834760
AU  - Klubickova, Natalie - Kinkor, Zdenek - Michal, Michael - Baneckova, Martina - Hajkova, Veronika - Michalek, Jaroslav - Pink, Richard - Dvořák, Zdeněk - Michal, Michal - Leivo, Ilmo - Skalova, Alena
PY  - 2022
TI  - Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature
JF  - HEAD & NECK PATHOLOGY
VL  - 16
IS  - 2
SP  - 621-630
EP  - 621-630
PB  - SPRINGER
SN  - 1936055X
KW  - Epithelioid soft tissue neoplasm
KW  - Oral cavity
KW  - PTCH1-GLI1 gene fusion
KW  - Soft palate
KW  - S100 protein
KW  - Hedgehog signaling pathway
UR  - https://link.springer.com/article/10.1007/s12105-021-01388-4
N2  - GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases.
ER  -

KLUBICKOVA, Natalie, Zdenek KINKOR, Michael MICHAL, Martina BANECKOVA, Veronika HAJKOVA, Jaroslav MICHALEK, Richard PINK, Zdeněk DVOŘÁK, Michal MICHAL, Ilmo LEIVO a Alena SKALOVA. Epithelioid Soft Tissue Neoplasm of the Soft Palate with a PTCH1-GLI1 Fusion: A Case Report and Review of the Literature. \textit{HEAD \&{} NECK PATHOLOGY}. NEW YORK: SPRINGER, 2022, roč.~16, č.~2, s.~621-630. ISSN~1936-055X. Dostupné z: https://dx.doi.org/10.1007/s12105-021-01388-4.

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