TIMP3::ALK fusions characterize a distinctive myxoid fibroblastic tumor of the vocal cords: a report of 7 cases

Klubíčková, Natálie; Agaimy, Abbas; Zidar, Nina; Pavlovský, Michal; Yorita, Kenji; Grossmann, P.; Hájková, Veronika; Ptáková, Nikola; Šteiner, Petr; Michal, Michal

doi:10.1007/s00428-022-03389-2

Cited by 2 publications

(2 citation statements)

References 40 publications

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“…Inflammatory myofibroblastic tumor (IMT) is a low-grade neoplasm which in approximately 15% of cases arises in the head and neck with favorable prognosis and very infrequent recurrences [ 82 , 83 ]. IMT is driven by constitutive activity of ALK or other receptor tyrosine kinase.…”

Section: Soft Tissue Neoplasms With Head and Neck Predilectionmentioning

confidence: 99%

“…Nasal chondromesenchymal hamartoma (NCMH) is a pediatric benign mesenchymal sinonasal tumor which in a subset of cases is associated with DICER1 syndrome [81]. NCMH is usually an indolent tumor but when syndromic, patients have an increased risk for pleuropulmonary [82,83]. IMT is driven by constitutive activity of ALK or other receptor tyrosine kinase.…”

Section: Molecular Alterations With Differential Diagnostic Significancementioning

confidence: 99%

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Molecular pathology in diagnosis and prognostication of head and neck tumors

Skálová,

Bradová,

Michal

et al. 2024

Virchows Arch

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Classification of head and neck tumors has evolved in recent decades including a widespread application of molecular testing in tumors of the salivary glands, sinonasal tract, oropharynx, nasopharynx, and soft tissue. Availability of new molecular techniques allowed for the definition of multiple novel tumor types unique to head and neck sites. Moreover, the expanding spectrum of immunohistochemical markers facilitates a rapid identification of diagnostic molecular abnormalities. As such, it is currently possible for head and neck pathologists to benefit from a molecularly defined classifications, while making diagnoses that are still based largely on histopathology and immunohistochemistry. This review highlights some principal molecular alterations in head and neck neoplasms presently available to assist pathologists in the practice of diagnosis, prognostication and prediction of response to treatment.

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Section: Soft Tissue Neoplasms With Head and Neck Predilectionmentioning

confidence: 99%

Section: Molecular Alterations With Differential Diagnostic Significancementioning

confidence: 99%

Molecular pathology in diagnosis and prognostication of head and neck tumors

Skálová,

Bradová,

Michal

et al. 2024

Virchows Arch

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ALK-rearranged Mesenchymal Neoplasms With Prominent Foamy/Pseudolipogenic Cell Morphology

Agaimy,

Stoehr,

Fisher

et al. 2024

American Journal of Surgical Pathology

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The category of ALK-rearranged mesenchymal neoplasms has been evolving rapidly, with reports of morphologically diverse lesions of cutaneous, soft tissue, and visceral origin. While some of these represent morphologically defined entities harboring recurrent ALK fusions (inflammatory myofibroblastic tumor and epithelioid fibrous histiocytoma), others are unclassified by morphology with variable overlap with the tyrosine kinase family of neoplasia and their underlying ALK fusions cannot be suspected based on morphology. We herein report 3 cases that expand the anatomic, morphologic, and genotypic spectrum of ALK-rearranged unclassified neoplasms. Patients were all adults aged 46 to 69 (median: 63) who presented with a mass located in the gingiva, subcutis of the back, and submucosal posterior pharyngeal wall. The tumor size ranged from 1 to 2.7 cm (median: 1.6). Conservative surgery was the treatment in all patients. Follow-up was available for one patient who remained disease-free at 14 months. Histologically, all tumors displayed large polygonal cells with foamy to granular and lipogenic-like microvacuolated copious cytoplasm and medium-sized round nuclei with 1 or 2 prominent nucleoli. Mitoses and necrosis were not seen. The initial diagnostic impression was PEComa, inflammatory rhabdomyoblastic tumor and unclassified pseudolipogenic neoplasm. Strong cytoplasmic ALK was detected by immunohistochemistry in all cases. Other positive markers include Cathepsin K (2/2), desmin (1/3), focal MyoD1 (1/1), focal SMA (1/3), and focal EMA (1/2). Targeted RNA sequencing revealed ALK fusions with exon 20 (2 cases) and exon 19 (one case) of ALK fused to RND3 (exon 3), SQSTM1 (exon 6), and desmin (intron 6). Methylation profiling in the desmin-fused case (initially diagnosed as inflammatory rhabdomyoblastic tumor) revealed an inflammatory myofibroblastic tumor match with a low confidence score of 0.5 and a flat copy number variation (CNV) profile. No NF1 mutation was detected in this case, altogether excluding an inflammatory rhabdomyoblastic tumor. Our study highlights and expands the morphologic and anatomic diversity of ALK-fused neoplasms and documents novel fusion partners (RND3 and desmin).

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TIMP3::ALK fusions characterize a distinctive myxoid fibroblastic tumor of the vocal cords: a report of 7 cases

Cited by 2 publications

References 40 publications

Molecular pathology in diagnosis and prognostication of head and neck tumors

Molecular pathology in diagnosis and prognostication of head and neck tumors

ALK-rearranged Mesenchymal Neoplasms With Prominent Foamy/Pseudolipogenic Cell Morphology

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