Giant Cell Tumor of Soft Tissue: An Updated Review

Journal of Clinical Medicine, Journal Year: 2024, Volume and Issue: 13(10), P. 2870 - 2870

Published: May 13, 2024

Giant cell tumor of soft tissue (GCTST) is a locally aggressive mesenchymal neoplasm intermediate malignancy that predominantly occurs in the superficial extremities. It histologically similar to giant bone (GCTB) and shows mixture round oval mononuclear cells osteoclast-like multinucleated cells. Currently, immunohistochemistry plays very limited role diagnosis GCTST. Primary or secondary malignant GCTST has recently been described tumors exhibiting high-grade histological features demonstrate higher rates distant metastasis. lacks H3-3A gene mutations are identified vast majority GCTBs, suggesting different pathogenesis. Surgery standard treatment for localized Incomplete surgical resection usually followed by local recurrence. Radiation therapy may be considered when close proximity critical structures prevents microscopically negative margins. The systemic options advanced metastatic disease limited. This review provides an updated overview clinicoradiological features, pathogenesis, histopathology, In addition, we will discuss differential this peculiar neoplasm.

Language: Английский

---

Xanthogranulomatous epithelial tumors and keratin-positive giant cell-rich soft tissue tumors: two aspects of a single entity with frequent HMGA2-NCOR2 fusions

Modern Pathology, Journal Year: 2022, Volume and Issue: 35(11), P. 1656 - 1666

Published: June 11, 2022

Language: Английский

---

Giant cell tumor of bone: An update, including spectrum of pathological features, pathogenesis, molecular profile and the differential diagnoses.

PubMed, Journal Year: 2023, Volume and Issue: 38(2), P. 139 - 153

Published: Feb. 1, 2023

Giant cell tumor of bone (GCTB) is an enigmatic tumor. Despite its benign histological appearance and clinical behavior in most cases, it associated with recurrences, uncommonly metastasis, rarely a malignant transformation. During the last few years, there has been significant evolution diagnosis management GCTB, including discoveries related to underlying pathogenesis (RANK/RANK/OPG pathway), treatment-related implications form denosumab (approved inhibitor for targeting RANKL), leading improved surgical resections, especially cases recurrent, large borderline resectable tumors. Lately, specific Histone mutation, namely H3.3G34W almost all GCTBs discovered, further identification highly sensitive immunohistochemical antibody marker, H3.3G34W, which very useful exact differentiation from various mimics, implications. This review describes clinicopathological features variable features, recent concepts, pathogenesis, post-denosumab changes entities that constitute differential diagnosis, their molecular signatures,

Language: Английский

---

Keratin Positive Giant Cell Rich Tumor of the Pelvic Bone with a HMGA2::NCOR2 Fusion: A Case Report

International Journal of Surgical Pathology, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 8, 2025

Keratin positive giant cell rich tumor is a rare mesenchymal first described in 2025. It can occur both soft tissue and bone predominantly affects young women. The tumor's biological behavior remains uncertain despite its low-grade classification. Characterized by keratin expression HMGA2::NCOR2 gene fusion, tumors resemble conventional but lacks H3-3A mutations. This article presents 31-year-old woman with the pelvic bone, detailing her clinical presentation, diagnostic process, treatment, postoperative recovery. Histological examination revealed numerous osteoclast-like cells within mononuclear stroma, RNA sequencing confirming fusion. patient's management included surgical resection, no recurrence at six months follow-up. discussion emphasizes need for further research to understand pathogenesis explore potential targeted therapies.

Language: Английский

---

Giant Cell Tumors With HMGA2::NCOR2 Fusion

The American Journal of Surgical Pathology, Journal Year: 2023, Volume and Issue: 47(7), P. 801 - 811

Published: May 12, 2023

Giant cell tumors (GCTs) with high mobility group AT-Hook 2 ( HMGA2 )::nuclear receptor corepressor NCOR2 ) fusion are rare mesenchymal of controversial nosology, which have been anecdotally reported to respond CSFR1 inhibitors. Here, we performed a comprehensive study 6 GCTs HMGA2::NCOR2 and explored their relationship other giant cell-rich neoplasms. Tumors occurred in 4 females males ranging age from 17 32 years old (median 24). Three lesions originated subcutaneous soft tissue 3 bone. Tumor size ranged 20 33 mm 27 mm). The had nodular/multinodular architecture were composed sheets mononuclear “histiocytoid” cells uniform nuclei intermingled multinucleated cells. Mitotic activity was low nuclear atypia metaplastic bone absent. Variable findings included necrosis, cystic degeneration, lymphocytic infiltrate (sometimes forming nodules), xanthogranulomatous inflammation. On immunohistochemistry, all cases focally expressed pan-keratin negative SATB2 H3.3G34W. Whole RNA-sequencing GCT subset (tenosynovial-GCT, n = 19 “wild-type” tissue, 9). Hierarchical clustering data showed that formed single cluster, independent the entities. Methylome profiling similar results, but distinction less flagrant. Gene expression analysis levels CSF1/CSFR1 axis between tenosynovial-GCT, supporting potential sensitivity Clinical follow-up available for 5 patients (range: 10 64 mo; median mo). (60%) experienced local recurrences, whereas none distant metastases or died disease. Overall, our confirms expands previous knowledge on supports its inclusion as an entity.

Language: Английский

---

Giant cell-rich tumour with keratin expression and HMGA2::NCOR2 fusion presenting at a rare location, on the scalp of a 29-year-old male

Pathology, Journal Year: 2024, Volume and Issue: 56(4), P. 609 - 612

Published: Jan. 19, 2024

Language: Английский

---

Histones and their practical application in bone tumors: Do I always need them?

Human Pathology, Journal Year: 2024, Volume and Issue: 147, P. 92 - 100

Published: Feb. 1, 2024

Language: Английский

---

Immunohistochemical expression of H3.3 G34W in 100 giant cell tumors of bone and its diagnostic mimics, including its value in resolving uncommon diagnostic scenarios: A single institutional study at a tertiary cancer referral center, India

Indian Journal of Pathology and Microbiology, Journal Year: 2024, Volume and Issue: 67(3), P. 542 - 552

Published: Feb. 12, 2024

ABSTRACT Background: There can be a diagnostic challenge in differentiating giant cell tumor of bone (GCTB) from its mimics. Lately, histone H 3 F A (Histone 3.3 ) G34W has been identified as promising immunohistochemical marker. Aims: This study was aimed at evaluating H3.3 immunostaining 100 GCTBs, including value resolving dilemmas. Materials and Methods: Immunohistochemical staining for graded terms intensity (1+ to 3+) the percentage cells showing crisp nuclear staining. Results: One hundred GCTBs occurred 58 males 42 females (M: ratio = 1.3), 7-66 years age (average 31.3, median 28), commonly distal femur (26), followed by proximal tibia (17), radius (12), humerus (7), metacarpals sacrum (6), fibula relatively unusual sites (19), single multicentric case. Out 92 wherein worked, 81 (88.1%) showed positive mononuclear cells, tumors with fibrous histiocytoma-like areas, sparing osteoclast-like 3+ 65/81 (80%) tumors. All 7/7 (100%) malignant staining, pleomorphic/sarcomatous cells. metastatic immunostaining. Seven out 10 post-denosumab treated residual None other 37 “giant cell-rich” lesions displayed Four 9 tested mutation results. Conclusions: The sensitivity specificity GCTB were 88.1% 100%, respectively. constitutes one first reports our country, further validating GCTB, forms mimics, small biopsy samples. Its various dilemmas is presented utility identifying worth exploring.

Language: Английский

---

Keratin-Positive Giant Cell-Rich Tumor of Bone Harboring an HMGA2::NCOR2 Fusion: Two Cases, Including a Patient With Metastatic Disease, and Review of the Literature

International Journal of Surgical Pathology, Journal Year: 2023, Volume and Issue: 32(3), P. 556 - 564

Published: July 17, 2023

Giant cell-rich lesions of bone represent a heterogeneous group entities which classically include giant cell tumor bone, aneurysmal cyst, nonossifying fibroma, and Brown hyperparathyroidism. A recently described subset tumors involving soft tissue has been characterized by recurrent HMGA2::NCOR2 fusions keratin expression. The overlapping clinical, radiographic, morphological features these provide unique diagnostic challenge, particularly on biopsy. We present 2 additional cases keratin-positive with fusions, including 1 patient who developed metastatic disease.

Language: Английский

---

CSF1 expression in xanthogranulomatous epithelial tumor/keratin-positive giant cell-rich tumor

Human Pathology, Journal Year: 2023, Volume and Issue: 143, P. 1 - 4

Published: Nov. 20, 2023

Language: Английский

---