GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity

Liu, Jiahan; Mao, Rong-jun; Lao, I Weng; Yu, Lin; Bai, Qianming; Zhou, Xiaoyan; Wang, Jian

doi:10.1007/s00428-021-03224-0

Cited by 29 publications

(84 citation statements)

References 34 publications

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“…Soft tissue sarcomas with GLI1 alterations comprise a heterogeneous collection of mesenchymal neoplasms that equally afflict males and females, with age at presentation ranging from 1 to 83 years (mean: 36). 5 These tumors typically arise within the head and neck, similar to our case, with predilection for the tongue. 6 Other reported sites of involvement include extremities, trunk, stomach, ovary, jejunum, retroperitoneum, uterine cervix, and lung.…”

Section: Discussionsupporting

confidence: 68%

“…Immunohistochemistry produces inconsistent results, with most cases demonstrating variable positivity for CD56 and S100. Focal or patchy staining with SMA, AE1/AE3, CD10, synaptophysin, EMA, and p63 has also been reported 5,6,13 …”

Section: Discussionmentioning

confidence: 92%

“…Clinically, these tumors were initially considered benign; however, more recent studies have demonstrated potential for malignant behavior, including reports of local recurrence and regional or distant metastasis (lymph node and lung metastasis most commonly reported) 3,4,7 . While morphologic features correlative with malignant behavior have been identified, namely high‐mitotic rate (≥5/10 HPFs) and tumor necrosis, there has been no demonstrated relationship between GLI1 alteration subtype and clinical course 5 . Surgery is the primary treatment modality with consideration of adjuvant therapies for high‐risk features.…”

Section: Discussionmentioning

confidence: 99%

“…A variety of fusions and amplifications have been identified in soft tissue sarcomas with GLI1 alterations. Partner genes include ACTB1 , MALAT1 , FOXOP3 , PTCH1, APOD, DERA, NCOR2 , and SYT1 1,5,8–12 . Despite molecular heterogeneity, the morphology of these tumors is relatively consistent: monomorphic ovoid to spindled cells with scant to moderate amounts of amphophilic to eosinophilic cytoplasm 3 .…”

Section: Discussionmentioning

confidence: 99%

“…3,4,7 While morphologic features correlative with malignant behavior have been identified, namely high-mitotic rate (≥5/10 HPFs) and tumor necrosis, there has been no demonstrated relationship between GLI1 alteration subtype and clinical course. 5 Surgery is the primary treatment modality with consideration of adjuvant therapies for high-risk features. Of interest, a single case of PTCH1-GLI1 fusion-positive ovarian tumor reportedly responded to tyrosine kinase inhibitor Pazopanib.…”

Section: Discussionmentioning

confidence: 99%

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Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Shahabi

Israel

Sullivan

et al. 2022

Diagnostic Cytopathology

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Mesenchymal tumors harboring GLI1 gene fusions are a rare new entity that typically occur in the head and neck region of young to middle aged adults, with a particular predilection for the tongue. We report herein a case of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion of the right submental region in an 82‐year‐old male never smoker. Ultrasound‐guided fine needle aspiration (FNA) with concomitant core needle biopsy was performed. Cytology smears revealed a hypercellular, monotonous aspirate comprised of epithelioid to plasmacytoid cells with round regular nuclei and moderate amounts of cytoplasm. There were admixed granulomata. The patient underwent surgical resection with limited neck dissection and subsequent pathologic examination with performed next generation sequencing confirmed the presence of epithelioid mesenchymal tumor with PTCH1‐GLI1 gene fusion. To our knowledge, this is the first reported example of a mesenchymal tumor harboring GLI1 gene fusion initially evaluated by FNA.

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Section: Discussionsupporting

confidence: 68%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 3 more Smart Citations

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Shahabi

Israel

Sullivan

et al. 2022

Diagnostic Cytopathology

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Expanding the spectrum of GLI1‐altered mesenchymal tumors—A high‐grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and literature review of GLI1‐altered mesenchymal neoplasms of the gynecologic tract

Punjabi

Hong

Sittampalam

2022

Genes Chromosomes & Cancer

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GLI1‐altered mesenchymal tumors comprise a group of seemingly unrelated entities, including pericytoma with t(7;12) translocation, plexiform fibromyxoma, gastroblastoma, malignant epithelioid neoplasm with GLI1 rearrangements, and GLI1‐amplified mesenchymal neoplasms. Herein, we report a high‐grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and present a literature review of GLI1‐altered mesenchymal neoplasms of the gynecologic tract. A 57‐year‐old female presented with an abdomino‐pelvic mass, felt since a decade prior. Magnetic resonance imaging showed a heterogenous myometrial mass extending beyond the serosa. The patient underwent oncologic surgical resection. Gross examination revealed a perforated multi‐nodular uterine tumor (21 cm) with a firm white and soft fleshy cut surface, featuring hemorrhage and necrosis. The tumor was morphologically heterogenous, disclosing frankly sarcomatous areas composed of pleomorphic spindle and focally epithelioid cells, intermingled with a component of low‐grade spindle cells arranged in fascicles. There was a rich vascular network and zones of necrosis with peripheral amianthoid‐like collagen plaques. Lymphovascular invasion and metastasis to lymph nodes and omentum were present. The tumor was immunopositive for CD10 and cyclinD1, and negative for cytokeratins, myogenic, melanotic, and hormonal markers. ArcherTM Fusion Sarcoma Assay detected PAMR1(exon1)::GLI1(exon4) fusion, confirmed on RT‐PCR and Sanger sequencing. The patient received chemo‐radiotherapy, however, developed metastatic recurrence and demised 18 months post‐surgery. Altogether, this is a rare and diagnostically challenging case of a uterine sarcoma harboring a novel GLI1 fusion. Emerging GLI/Hedgehog inhibitors provide clinical relevance to recognizing these tumors in modern pathology.

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Spezielle mesenchymale Tumoren der Kopf-Hals-Region: Neues aus der WHO 2022

Agaimy

Franchi

2023

Pathologie

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GLI1-altered mesenchymal tumor: a clinicopathological and molecular analysis of ten additional cases of an emerging entity

Cited by 29 publications

References 34 publications

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Fine needle aspiration biopsy of epithelioid‐mesenchymal neoplasm with PTCH1‐GLI1 fusion: A case report

Expanding the spectrum of GLI1‐altered mesenchymal tumors—A high‐grade uterine sarcoma harboring a novel PAMR1::GLI1 fusion and literature review of GLI1‐altered mesenchymal neoplasms of the gynecologic tract

Spezielle mesenchymale Tumoren der Kopf-Hals-Region: Neues aus der WHO 2022

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