“Inflammatory Leiomyosarcoma” and “Histiocyte-rich Rhabdomyoblastic Tumor”: a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as “Inflammatory Rhabdomyoblastic Tumor”

Cloutier, Jeffrey M.; Charville, Gregory W.; Mertens, Fredrik; Sukov, William R.; Fritchie, Karen; Perry, Kyle; Edgar, Mark A.; Rowsey, Ross; Folpe, Andrew L.

doi:10.1038/s41379-020-00703-8

Cited by 33 publications

(63 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Molecular inversion probe single-nucleotide polymorphism (SNP) array using the OncoScan FFPE Assay Kit (Affymetrix, Santa Clara, CA) was performed as previously described. 6,10,13 Briefly, genomic DNA was extracted from the dissected tumor areas of FFPE tissue slides (QIAamp DNA FFPE Tissue Kit; QIAGEN, Germantown, MD). The probes of the OncoScan assay kit were added and annealed to 80 ng of DNA from each selected case, followed by the separate addition of A/T and G/C dNTPs and respective gap-filling reactions.…”

Section: Molecular Inversion Probe Array Analysis (Oncoscan)mentioning

confidence: 99%

Pulmonary “Inflammatory Leiomyosarcomas” Are Indolent Tumors With Diploid Genomes and No Convincing Rhabdomyoblastic Differentiation

Kao

Kuo

et al. 2021

American Journal of Surgical Pathology

View full text Add to dashboard Cite

Inflammatory leiomyosarcoma is a rare myogenic tumor with striking inflammatory infiltrates and a specific genomic pattern of near-haploidization despite exception(s). Recent studies demonstrated that inflammatory leiomyosarcoma shares substantially overlapping features with histiocyte-rich rhabdomyoblastic tumor, including expression of rhabdomyoblastic markers such as myogenin, MyoD1, and PAX7 and a high prevalence of genomic near-haploidization, suggesting that they represent a unifying entity, for which the term inflammatory rhabdomyoblastic tumor was coined. In this study, we identified 4 pulmonary tumors histologically typical of inflammatory leiomyosarcomas, all in men (aged 26 to 49), presented as slowgrowing well-defined nodules ranging from 1.4 to 3.5 cm, and following uneventful postoperative courses. All tumors were positive for desmin immunostaining, while only 1 and 2 were focally positive for smooth muscle actin and smooth muscle myosin heavy chain, respectively. They showed no expression of myogenin, MyoD1, or PAX7 by immunohistochemistry or RNA sequencing. Copy number analyses by whole-exome sequencing (N = 1), OncoScan single-nucleotide polymorphism array (2), and fluorescence in situ hybridization (1) revealed/suggested diploid genomes. Together with a previously reported case, all these pulmonary "inflammatory leiomyosarcomas" seemed clinically, pathologically, and genomically alike. Despite a superficial resemblance to conventional inflammatory leiomyosarcoma in somatic soft tissues (now preferably termed inflammatory rhabdomyoblastic tumor), they differ in the lack of convincing rhabdomyoblastic differentiation and genomic nearhaploidization. Therefore, we propose that these pulmonary tumors probably represent a distinct entity, for which the exact line of differentiation, and perhaps the most suitable terminology to better reflect its nature, remains to be determined. The term inflammatory rhabdomyoblastic tumor seems inappropriate for this group of tumors.

show abstract

Section: Molecular Inversion Probe Array Analysis (Oncoscan)mentioning

confidence: 99%

Pulmonary “Inflammatory Leiomyosarcomas” Are Indolent Tumors With Diploid Genomes and No Convincing Rhabdomyoblastic Differentiation

Kao

Kuo

et al. 2021

American Journal of Surgical Pathology

View full text Add to dashboard Cite

show abstract

“…Most recently, Cloutier et al . studied four lesions previously classified as inflammatory leiomyosarcoma and nine histiocyte‐rich rhabdomyoblastic tumours, and showed them to have identical clinical, morphologicaland immunohistochemical profiles, and near‐haploid karyotypes, with retained disomy of chromosomes 5, 20, and 22 75 . In particular, all cases showed coexpression of desmin, myogenin, MyoD1, and PAX7, which is an immunophenotype diagnostic of skeletal muscle differentiation.…”

Section: Inflammatory Rhabdomyoblastic Tumourmentioning

confidence: 91%

“…This differential diagnosis is discussed at length in recent articles by Martinez et al 74 . and Cloutier et al 75 …”

Section: Inflammatory Rhabdomyoblastic Tumourmentioning

confidence: 99%

“…Available clinical follow-up on 28 patients from the five best-documented series has demonstrated only one with intra-abdominal spread of disease; all were alive at the time of last follow-up. 70,71,[74][75][76] There is a single exceptional report of a genetically confirmed inflammatory rhabdomyoblastic tumour with progression to rhabdomyosarcoma, with a fatal outcome. 77 The differential diagnosis of inflammatory rhabdomyoblastic tumour revolves around other lesions that may show skeletal muscle differentiation, express skeletal muscle-related markers, or show a prominent, histiocyte-rich inflammatory cell infiltrate, including rhabdomyoma, various rhabdomyosarcoma, angiomatoid fibrous histiocytoma, inflammatory myofibroblastic tumour, tenosynovial giant cell tumour, and EWSR1::PATZ1 sarcoma.…”

Section: Inflammatory Rhabdomyoblastic Tumourmentioning

confidence: 99%

“…A near‐haploid genotype with retained disomy of chromosomes 5, 20 and 22 is present in most, but not all, cases (Figure 9F). Available clinical follow‐up on 28 patients from the five best‐documented series has demonstrated only one with intra‐abdominal spread of disease; all were alive at the time of last follow‐up 70,71,74–76 . There is a single exceptional report of a genetically confirmed inflammatory rhabdomyoblastic tumour with progression to rhabdomyosarcoma, with a fatal outcome 77 …”

Section: Inflammatory Rhabdomyoblastic Tumourmentioning

confidence: 99%

See 2 more Smart Citations

‘I Can’t Keep Up!’: an update on advances in soft tissue pathology occurring after the publication of the 2020 World Health Organization classification of soft tissue and bone tumours

Folpe

2021

Histopathology

View full text Add to dashboard Cite

Progress in our understanding of the pathogenesis and diagnosis of soft tissue neoplasia is exceptionally rapid. Although the most recent World Health Organization classification of soft tissue tumours contains many new entities and refinements of older ones, even this comprehensive document is by now incomplete or in need of modification. This review will attempt to summarise the developments in soft tissue pathology that have occurred since 2020, emphasising lesions for which morphology and genetics intersect in a complementary fashion. Novel entities discussed include KMT2A-rearranged sarcoma, PRRX::NCOAx fibroblastic tumours, EWSR1::PATZ1 sarcomas, BRAF-altered infantile fibrosarcoma-like lesions, NUTM1-rearranged colorectal sarcomas, and a variety of interesting giant cell-rich and matrix-producing lesions. In addition, recently described mimics of atypical lipomatous tumour/welldifferentiated liposarcoma are covered, as is a wholly new, morphologically defined and genetically confirmed entity, pseudoendocrine sarcoma. Finally, exciting new developments in the use of immunohistochemistry as a surrogate for molecular genetic techniques are discussed.

show abstract

Inflammatory Rhabdomyoblastic Tumor of the Posterior Pharyngeal Wall

Baker,

Allen,

Jones

et al. 2024

JAMA Otolaryngol Head Neck Surg

View full text Add to dashboard Cite

show abstract

“Inflammatory Leiomyosarcoma” and “Histiocyte-rich Rhabdomyoblastic Tumor”: a clinicopathological, immunohistochemical and genetic study of 13 cases, with a proposal for reclassification as “Inflammatory Rhabdomyoblastic Tumor”

Cited by 33 publications

References 26 publications

Pulmonary “Inflammatory Leiomyosarcomas” Are Indolent Tumors With Diploid Genomes and No Convincing Rhabdomyoblastic Differentiation

Pulmonary “Inflammatory Leiomyosarcomas” Are Indolent Tumors With Diploid Genomes and No Convincing Rhabdomyoblastic Differentiation

‘I Can’t Keep Up!’: an update on advances in soft tissue pathology occurring after the publication of the 2020 World Health Organization classification of soft tissue and bone tumours

Inflammatory Rhabdomyoblastic Tumor of the Posterior Pharyngeal Wall

Contact Info

Product

Resources

About