PEComa of the Nose: Report of a Case with Immunohistochemical and Ultrustructural Studies and a Review of the Literature

Afrogheh, Amir; Schneider, Johann; Bezuidenhout, Abraham F.; Hille, Jos

doi:10.1007/s12105-013-0470-z

Cited by 10 publications

(5 citation statements)

References 21 publications

(19 reference statements)

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“…PEComas in the sinonasal tract are exceptionally rare with only few well-documented cases reported in the literature (Table 1). [6][7][8][9][10][11][12] Moreover, molecular genetic studies are limited to only 2 recent reports. 11,12 In both cases, NONO:: TFE3 fusion transcripts, a result of subtle intrachromosomal Xp11.2 inversion, were found.…”

Section: Discussionmentioning

confidence: 99%

Unusual PEComa With PRCC::TFE3 Fusion Mimicking Sinonasal Tract Melanoma

Lasota,

Thompson,

Chłopek

et al. 2024

Applied Immunohistochemistry &Amp; Molecular Morphology

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Background: We report a nasal cavity unusual perivascular epithelioid cell tumor (PEComa) mimicking mucosal melanoma. Methods: Immunohistochemistry was performed using BenchMark Ultra and panel of antibodies. The Ion Torrent platform and Ion AmpliSeq cancer hotspot panel were utilized for DNA genotyping. Target-specific RNA libraries for the detection of fusion transcripts were constructed using Archer Universal RNA Reagent Kit v2 and Archer FusionPlex Solid Tumor panel and sequenced on the MiSeqDx instrument. Results: The tumor, diagnosed in 46-year-old female, was composed of spindle cells, and lacked pigmentation. Immunohistochemically, it showed a patchy HMB-45 positivity. Other melanocytic markers (S100 protein, Melan-A, SOX10) were negative. The tumor cells were weakly positive for KIT (CD117) while negative for smooth muscle actin, pancytokeratin cocktail (AE1/AE3), and synaptophysin. Diagnosis of primary sinonasal tract mucosal melanoma was favored. Additional molecular studies detected PRCC::TFE3 fusion as the sole genetic change, and suggested the diagnosis of unusual PEComa. Previously, TFE3 fusions were reported in a subset of PEComas but not in melanomas, while PRCC involvement has only been documented once in an ocular PEComa. Immunohistochemistry revealed strong nuclear TFE3 expression concordant with the molecular findings. Conclusions: This report emphasis the importance of molecular testing in the differential diagnosis between PEComa and melanoma, especially when the tumor arises in a site typical of melanoma but showing an unusual morphology and immunophenotype. The detection of TFE3 fusion transcripts suggested the diagnosis of SNT PEComa, although it cannot be excluded that this and similar tumors represent a distinct diagnostic category.

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Section: Discussionmentioning

confidence: 99%

Unusual PEComa With PRCC::TFE3 Fusion Mimicking Sinonasal Tract Melanoma

Lasota,

Thompson,

Chłopek

et al. 2024

Applied Immunohistochemistry &Amp; Molecular Morphology

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“…Not all PECs are epithelioid and some have spindled or adipocyte‐like morphology. Spindled PECs strongly express myogenic markers, whereas epithelioid PECs strongly express HMB‐45 10,11 . In addition, AML occurring in the head and neck region is usually relatively small, in contrast to AML arising in the kidney or liver, which is often large 12 .…”

Section: Discussionmentioning

confidence: 99%

“…Spindled PECs strongly express myogenic markers, whereas epithelioid PECs strongly express HMB-45. 10,11 In addition, AML occurring in the head and neck region is usually relatively small, in contrast to AML arising in the kidney or liver, which is often large. 12 The CT findings of AML occurring in the head and neck region that have been reported so far are characterized by well delimited and unenhanced.…”

Section: Discussionmentioning

confidence: 99%

Rare case of angiomyolipoma of the larynx

Nakamura

Tada

Ogawa

et al. 2021

Clinical Case Reports

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“… 1 HMB45 is considered the most sensitive marker for PEComa, followed by Melan-A. 5 Smooth muscle actin (SMA) is the most widely described smooth muscle marker. 1 Meanwhile the desmin marker is more prevalent in cutaneous cases as compared to visceral cases.…”

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confidence: 99%

“… 1 Meanwhile the desmin marker is more prevalent in cutaneous cases as compared to visceral cases. 1 , 5 …”

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confidence: 99%