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Subcutaneous chondromyxoid fibroma with a novel PNISR::GRM1 fusion—report of a primary soft tissue tumour without connection to an underlying bone
ID
Zupan, Andrej
(
Avtor
),
ID
Salapura, Vladka
(
Avtor
),
ID
Šekoranja, Daja
(
Avtor
),
ID
Pižem, Jože
(
Avtor
)
PDF - Predstavitvena datoteka,
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(998,25 KB)
MD5: 4D1F7E3FC30C162107856B521ECA16F0
URL - Izvorni URL, za dostop obiščite
https://link.springer.com/article/10.1007/s00428-023-03519-4
Galerija slik
Izvleček
Chondromyxoid fibroma (CMF) is a rare benign bone tumour. While CMF located entirely on the surface of a bone (i.e. juxtacortical CMF) has been well characterised, CMF has not so far been convincingly documented to arise in soft tissues without connection to an underlying bone. We report a subcutaneous CMF in a 34-year-old male, located on the distal medial aspect of the right thigh without any connection with the femur. The tumour measured 15 mm, it was well-circumscribed and displayed typical morphological features of a CMF. At the periphery, there was a small area of metaplastic bone. Immunohistochemically, the tumour cells were diffusely positive for smooth muscle actin and GRM1, and negative for S100 protein, desmin and cytokeratin AE1AE3. Whole transcriptome sequencing revealed a novel PNISR::GRM1 gene fusion. Our case indicates that CMF should be included in the differential diagnosis of soft tissue (including subcutaneous) tumours composed of spindle/ovoid cells, with a lobular architecture and chondromyxoid matrix. The diagnosis of CMF arising in soft tissues can be confirmed by identifying a GRM1 gene fusion or GRM1 expression by immunohistochemistry.
Jezik:
Angleški jezik
Ključne besede:
chondromyxoid fibroma
,
extraosseous tumour
,
GRM1
,
MEF2A::ARHGAP36
,
PNISR::GRM1
,
subcutaneous tumour
Vrsta gradiva:
Članek v reviji
Tipologija:
1.01 - Izvirni znanstveni članek
Organizacija:
MF - Medicinska fakulteta
Status publikacije:
Objavljeno
Različica publikacije:
Objavljena publikacija
Leto izida:
2023
Št. strani:
Str. 917-921
Številčenje:
Vol. 482, iss. 5
PID:
20.500.12556/RUL-148046
UDK:
616
ISSN pri članku:
0945-6317
DOI:
10.1007/s00428-023-03519-4
COBISS.SI-ID:
142570499
Datum objave v RUL:
26.07.2023
Število ogledov:
1142
Število prenosov:
66
Metapodatki:
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Objavi na:
Gradivo je del revije
Naslov:
Virchows Archiv
Skrajšan naslov:
Virchows arch.
Založnik:
Springer Nature, European Society of Pathology
ISSN:
0945-6317
COBISS.SI-ID:
7571161
Licence
Licenca:
CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:
http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:
To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Sekundarni jezik
Jezik:
Slovenski jezik
Ključne besede:
hondromiksoidni fibrom
,
zunajkostni tumor
,
GRM1
Projekti
Financer:
ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
Številka projekta:
P3-0054
Naslov:
Patologija in molekularna genetika
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