Re-evaluating a historic cohort of sinonasal and skull base mucoepidermoid carcinoma : an institutional experience
© 2024. The Author(s)..
AIMS: Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and nasopharynx are rare entities that represent a diagnostic challenge, especially in biopsy samples. Herein, we present a case series of MECs of the sinonasal and skull base and its mimics to evaluate the clinicopathological and molecular characteristics in order to avoid misdiagnosis.
METHODS: We reviewed the pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were consecutively diagnosed during that period.
ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement was detected by FISH; and MECs as previously described (4 cases) with typical morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal region, while 5 tumors arose from the sinonasal region. The prognosis of this series of salivary gland-type MECs was favorable.
CONCLUSIONS: Our study confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal tract and nasopharynx, particularly with biopsy specimens. Careful histological evaluation with supporting molecular testing can facilitate pathological diagnoses.
| Medienart: |
E-Artikel |
|---|
| Erscheinungsjahr: |
2024 |
|---|---|
| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:19 |
|---|---|
| Enthalten in: |
Diagnostic pathology - 19(2024), 1 vom: 01. März, Seite 46 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Hu, Chunyan [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Case Reports |
|---|
| Anmerkungen: |
Date Completed 04.03.2024 Date Revised 04.03.2024 published: Electronic Citation Status MEDLINE |
|---|
| doi: |
10.1186/s13000-024-01466-5 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM369197046 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM369197046 | ||
| 003 | DE-627 | ||
| 005 | 20240304232917.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240302s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13000-024-01466-5 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1316.xml |
| 035 | |a (DE-627)NLM369197046 | ||
| 035 | |a (NLM)38429827 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Hu, Chunyan |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Re-evaluating a historic cohort of sinonasal and skull base mucoepidermoid carcinoma |b an institutional experience |
| 264 | 1 | |c 2024 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 04.03.2024 | ||
| 500 | |a Date Revised 04.03.2024 | ||
| 500 | |a published: Electronic | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024. The Author(s). | ||
| 520 | |a AIMS: Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and nasopharynx are rare entities that represent a diagnostic challenge, especially in biopsy samples. Herein, we present a case series of MECs of the sinonasal and skull base and its mimics to evaluate the clinicopathological and molecular characteristics in order to avoid misdiagnosis | ||
| 520 | |a METHODS: We reviewed the pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were consecutively diagnosed during that period | ||
| 520 | |a RESULTS: Based on morphological and fluorescence in situ hybridization (FISH) analyses, 30 tumors originally diagnosed as MECs were separated into MAML2 fusion-positive (7 cases) and MAML2 fusion-negative groups (23 cases), in which 14 tumors were positive for the EWSR1::ATF1 fusion; these tumors were reclassified to have hyalinizing clear cell carcinoma (HCCC). The remaining nine MAML2 FISH negative cases were reconfirmed as squamous cell carcinoma (SCC, 3 cases) which showed keratinization and high Ki-67 expression; DEK::AFF2 carcinomas (2 cases), in which DEK gene rearrangement was detected by FISH; and MECs as previously described (4 cases) with typical morphological features. Including 7 MAML2 rearrangements tumors, 11 MEC cases had a male-to-female ratio of 4.5:1, and 6 tumors arose from the nasopharyngeal region, while 5 tumors arose from the sinonasal region. The prognosis of this series of salivary gland-type MECs was favorable | ||
| 520 | |a CONCLUSIONS: Our study confirmed that HCCC runs the risk of being misdiagnosed as MEC in the sinonasal tract and nasopharynx, particularly with biopsy specimens. Careful histological evaluation with supporting molecular testing can facilitate pathological diagnoses | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Review | |
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a DEK::AFF | |
| 650 | 4 | |a EWSR1::ATF1 | |
| 650 | 4 | |a MAML2 | |
| 650 | 4 | |a Hyalinizing clear cell carcinoma | |
| 650 | 4 | |a Mucoepidermoid carcinoma | |
| 650 | 4 | |a Sinonasal tract and skull base | |
| 650 | 7 | |a Transcription Factors |2 NLM | |
| 700 | 1 | |a Lin, Lan |e verfasserin |4 aut | |
| 700 | 1 | |a Ye, Ming |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Yifeng |e verfasserin |4 aut | |
| 700 | 1 | |a Huang, Qiang |e verfasserin |4 aut | |
| 700 | 1 | |a Yuan, Cuncun |e verfasserin |4 aut | |
| 700 | 1 | |a Sun, Ji |e verfasserin |4 aut | |
| 700 | 1 | |a Sun, Hui |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Diagnostic pathology |d 2006 |g 19(2024), 1 vom: 01. März, Seite 46 |w (DE-627)NLM163368600 |x 1746-1596 |7 nnns |
| 773 | 1 | 8 | |g volume:19 |g year:2024 |g number:1 |g day:01 |g month:03 |g pages:46 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1186/s13000-024-01466-5 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 19 |j 2024 |e 1 |b 01 |c 03 |h 46 | ||