A Malignant Neoplasm From the Jejunum With a <i>MALAT1-GLI1</i> Fusion and 26-Year Survival History

Prall, Owen W.J.; McEvoy, Christopher R. E.; Byrne, David; Iravani, Amir; Browning, Judy; Choong, David Y.H.; Yellapu, Bhargavi; O’Haire, Sophie; Smith, Kortnye; Luen, Stephen J.; Mitchell, Paul; Desai, Jayesh; Fox, Stephen B.; Fellowes, Andrew; Xu, Huiling

doi:10.1177/1066896919900548

Cited by 30 publications

(32 citation statements)

References 31 publications

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“…Malignant epithelioid tumor with GLI1 rearrangement is a recently described epithelioid neoplasm of the soft tissue that harbors MALAT1–GLI1 fusion with a metastatic potential[ 65 ]. In the GI tract, only one case in the jejunum has been reported[ 10 ]. Later, Agaram et al [ 66 ] reported GLI1 gene amplifications in a subset of soft tissue tumors with similar morphology, even though these tumors showed broader morphologic spectrum and inconsistent immunohistochemistry.…”

Section: Differential Diagnosis: Molecular Mimicsmentioning

confidence: 99%

“…While PF behaves in a benign manner, its histologic mimics such as GISTs, smooth muscle tumors and nerve sheath tumors show malignant potential[ 8 , 9 ]. Moreover, its molecular mimics, such as gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 ( GLI1 ) rearrangement, need to be excluded especially when evaluating small samples and when the molecular profiling is included in the work-up[ 10 ]. Herein we provide a concise review of PF focusing on its histologic and molecular differential diagnoses.…”

Section: Introductionmentioning

confidence: 99%

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Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Arslan

et al. 2021

WJGO

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Plexiform fibromyxoma (PF) is a very rare mesenchymal neoplasm of the stomach that was first described in 2007 and was officially recognized as a subtype of gastric mesenchymal neoplasm by World Health Organization (WHO) in 2010. Histologically, PF is characterized by a plexiform growth of bland spindle to ovoid cells embedded in a myxoid stroma that is rich in small vessels. The lesion is usually paucicellular. While mucosal and vascular invasion have been documented, no metastasis or malignant transformation has been reported. Its pathogenesis is largely unknown and defining molecular alterations are not currently available. There are other mesenchymal tumors arising in the gastrointestinal tract that need to be differentiated from PF given their differing biologic behaviors and malignant potential. Histologic mimics with spindle cells include gastrointestinal stromal tumor, smooth muscle tumor, and nerve sheath tumor. Histologic mimics with myxoid stroma include myxoma and aggressive angiomyxoma. Molecular alterations that have been described in a subset of PF may be seen in gastroblastoma and malignant epithelioid tumor with glioma-associated oncogene homologue 1 ( GLI1 ) rearrangement. The recent increase in publications on PF reflects growing recognition of this entity with expansion of clinical and pathologic findings in these cases. Herein we provide a review of PF in comparison to other mesenchymal tumors with histologic and molecular resemblance to raise the awareness of this enigmatic neoplasm. Also, we highlight the challenges pathologists face when the sample is small, or such rare entity is encountered intraoperatively.

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Section: Differential Diagnosis: Molecular Mimicsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Arslan

et al. 2021

WJGO

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“…Despite this genetic similarity to plexiform fibromyxoma, the differences in clinical behaviour and morphology support maintaining separate classification. There have also been reports of neoplasms with MALAT1 – GLI1 fusions occurring in the jejunum 50 and deep soft tissue 51 . Additionally, a tumour with biphasic morphology and immunohistochemical features similar to those of gastroblastoma was reported in the duodenum, raising the possibility that ‘gastroblastoma’ can involve extragastric sites 52 .…”

Section: Gastroblastomamentioning

confidence: 99%

Recent developments in gastroesophageal mesenchymal tumours

Papke

Hornick

2020

Histopathology

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The pathologist’s approach to gastroesophageal mesenchymal tumours has changed dramatically during the last 25 years. In particular, gastrointestinal stromal tumour (GIST) has evolved from a wastebasket mesenchymal tumour category to a precisely defined entity with an increasingly detailed genetic subclassification. This subclassification has brought gastrointestinal mesenchymal neoplasia into the realm of precision medicine, with specific treatments optimised for particular genetic subtypes. Molecular genetic data have also greatly improved our understanding of oesophageal mesenchymal tumours, including the discovery that so‐called ‘giant fibrovascular polyps’ in fact represent a clinically distinctive presentation of well‐differentiated liposarcoma. Here, we will focus on gastroesophageal mesenchymal tumours for which there have been recent developments in classification, molecular genetics or tumour biology: granular cell tumour, ‘giant fibrovascular polyp’/well‐differentiated liposarcoma, plexiform fibromyxoma, gastroblastoma and, of course, GIST.

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“…Mesenchymal tumors harboring GLI1 gene fusions are a rare but distinctive group of recently described neoplasms whose clinicopathologic features are currently evolving. Various fusion partners to GLI1 have been described to date, including ACTB , MALAT1 , and PTCH1 , 1‐4 with cases of ACTB‐GLI1 fusion‐positive tumors showing a distinctive monomorphic round‐to‐epithelioid cell morphology and a nested to corded/trabecular pattern of growth, as well as an S100+/CD56+/SOX10−/SMA– immunophenotype 5 . Although few cases of this specific entity (herein termed ACTB‐GLI1 epithelioid mesenchymal neoplasm [EMN]) have been reported in the literature, most cases have occurred in the soft tissues of the limbs, trunk, and head and neck, with none previously reported occurring exclusively in the skin 1 …”

Section: Introductionmentioning

confidence: 99%

Primary cutaneous epithelioid mesenchymal neoplasm with ACTB‐GLI1 fusion: a case report

Rollins

Lindberg

2021

J Cutan Pathol

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Mesenchymal tumors harboring GLI1 gene abnormalities are a rare but distinctive group of neoplasms whose clinicopathologic features are currently evolving. In particular, examples of this tumor with ACTB‐GLI1 gene fusion, tentatively termed ACTB‐GLI1 epithelioid mesenchymal neoplasm (EMN), show a distinctive monomorphic round‐to‐epithelioid morphology, nested to trabecular pattern of growth, and S100+/SOX10−/SMA– immunophenotype. We report the first case of this entity arising exclusively in the skin. A 69‐year‐old man with no prior history of neoplasia presented with a 1.5‐cm raised lesion on the left buttock. Histopathologic examination revealed a diffuse dermal proliferation of small, monomorphic, round‐to‐ovoid cells with hyperchromatic nuclei, focally enlarged nucleoli, and minimal eosinophilic to clear‐staining cytoplasm. These cells were arranged in confluent nests and trabeculae in a background of fibrocollagenous to focally myxoid stroma. Immunohistochemical analysis revealed strong positivity for S100 and CD56, and negativity for SOX‐10, SMA, Melan‐A, HMB‐45, and a variety of other markers. Based on the morphology and immunophenotype, molecular studies were performed, which revealed the presence of an ACTB‐GLI1 fusion transcript, confirming the diagnosis. Given the morphologic overlap of this tumor with other cutaneous round cell neoplasms and its potential for malignant behavior, ACTB‐GLI1 EMN is an important entity for pathologists to recognize.

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A Malignant Neoplasm From the Jejunum With a MALAT1-GLI1 Fusion and 26-Year Survival History

Cited by 30 publications

References 31 publications

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Plexiform fibromyxoma: Review of rare mesenchymal gastric neoplasm and its differential diagnosis

Recent developments in gastroesophageal mesenchymal tumours

Primary cutaneous epithelioid mesenchymal neoplasm with ACTB‐GLI1 fusion: a case report

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