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Archives of Pathology & Laboratory... May 2020Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) is a subset of wild-type GIST that constitutes approximately 10% of gastric GISTs.... (Review)
Review
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) is a subset of wild-type GIST that constitutes approximately 10% of gastric GISTs. SDH-mutated GISTs lack mutations in the proto-oncogene receptor tyrosine kinase (also known as KIT, c-KIT, or CD117) or platelet-derived growth factor receptor α (PDGFR-α). These tumors have female predilection, affect children and young adults, and have a spectrum of behavior from indolent to progressive. These tumors have characteristic morphologic features including multinodular architecture, multiple tumors, lymphovascular involvement, and occasional lymph node metastasis. They can be seen in patients with Carney triad or Carney-Stratakis syndrome. Although a mutation in any one of the SDH subunits can be pathogenic, deficiency of a single subunit leads to loss of detectable SDH subunit B by immunohistochemistry, enabling a convenient, tissue-based screening method. The prognosis and the clinical course of these tumors is different from that of KIT- or PDGFR-α-mutated GISTs. Surgical management is considered the main line of treatment. SDH-mutated GISTs do not respond well to the common targeted therapy, with no objective tumor response to imatinib. The role of the pathologist in diagnosing these cases is imperative in management and subsequent follow-up.
Topics: Chondroma; Electron Transport Complex II; Gastrointestinal Stromal Tumors; Humans; Immunohistochemistry; Leiomyosarcoma; Lung Neoplasms; Membrane Proteins; Mutation; Paraganglioma; Paraganglioma, Extra-Adrenal; Prognosis; Proto-Oncogene Mas; Stomach Neoplasms; Succinate Dehydrogenase
PubMed: 31169996
DOI: 10.5858/arpa.2018-0370-RS -
Current Osteoporosis Reports Feb 2021Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide... (Review)
Review
PURPOSE OF REVIEW
Enchondroma is a common cartilage benign tumor that develops from dysregulation of chondrocyte terminal differentiation during growth plate development. Here we provide an overview of recent progress in understanding causative mutations for enchondroma, dysregulated signaling and metabolic pathways in enchondroma, and the progression from enchondroma to malignant chondrosarcoma.
RECENT FINDINGS
Several signaling pathways that regulate chondrocyte differentiation are dysregulated in enchondromas. Somatic mutations in the metabolic enzymes isocitrate dehydrogenase 1 and 2 (IDH1/2) are the most common findings in enchondromas. Mechanisms including metabolic regulation, epigenetic regulation, and altered signaling pathways play a role in enchondroma formation and progression. Multiple pathways regulate growth plate development in a coordinated manner. Deregulation of the process can result in chondrocytes failing to undergo differentiation and the development of enchondroma.
Topics: Bone Neoplasms; Cell Differentiation; Chondrosarcoma; Disease Progression; Enchondromatosis; Epigenesis, Genetic; Growth Plate; Humans; Signal Transduction
PubMed: 33306166
DOI: 10.1007/s11914-020-00639-7 -
Atencion Primaria 2019
Topics: Adult; Chondroma; Diaphyses; Female; Humans; Humerus; Shoulder Pain
PubMed: 30686678
DOI: 10.1016/j.aprim.2018.12.003 -
American Journal of Medical Genetics.... May 2020Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant...
Ollier disease (OD) and Maffucci syndrome (MS) are characterized by multiple enchondromas. Patients with MS also have benign vascular overgrowths that become malignant in 8.5% of cases. OD is characterized by multiple enchondromas, typically unilateral in distribution with a predilection for the appendicular skeleton. MS is characterized by multiple enchondromas bilaterally distributed in most of the cases. Both disorders feature multiple swellings on the extremity, deformity around the joints, limitations in joint mobility, scoliosis, bone shortening, leg-length discrepancy, gait disturbances, pain, loss of function, and pathological fractures. About 50% of patients with OD or MS develop a malignancy, such as chondrosarcoma, glioma, and ovarian juvenile granulosa cell tumor. To better understand the natural history of OD and MS, we reviewed 287 papers describing patients with OD and MS. We also created a survey that was distributed directly to 162 patients through Facebook. Here, we compare the review of the cases described in the literature to the survey's responses. The review of the literature showed that: the patients with OD are diagnosed at a younger age; the prevalence of chondrosarcomas among patients with OD or MS was ~30%; in four patients, vascular anomalies were identified in internal organs only; and, the prevalence of cancer among patients with OD or MS was ~50%. With these data, health care providers will better understand the natural history, severity, and prognosis of these diseases and the prevalence of malignancies in these patients. Here, we recommend new guidelines for the care of patients with OD and MS.
Topics: Adolescent; Adult; Child; Child, Preschool; Chondrosarcoma; Enchondromatosis; Female; Granulosa Cell Tumor; Humans; Infant; Infant, Newborn; Male; Middle Aged; Ovarian Neoplasms; Prognosis; Young Adult
PubMed: 32144835
DOI: 10.1002/ajmg.a.61530 -
European Annals of Otorhinolaryngology,... May 2021
Topics: Chondroma; Humans; Laryngeal Neoplasms; Larynx
PubMed: 32811795
DOI: 10.1016/j.anorl.2020.08.003 -
Archives of Pathology & Laboratory... Jan 2020Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection,... (Review)
Review
CONTEXT.—
Cartilaginous tumors represent one of the most common tumors of bone. Management of these tumors includes observation, curettage, and surgical excision or resection, depending on their locations and whether they are benign or malignant. They can be diagnostically challenging, particularly in small biopsies. In rare cases, benign tumors may undergo malignant transformation.
OBJECTIVE.—
To review common cartilaginous tumors, including in patients with multiple hereditary exostosis, Ollier disease, and Maffucci syndrome, and to discuss problems in the interpretation of well-differentiated cartilaginous neoplasms of bone. Additionally, the concept of atypical cartilaginous tumor/chondrosarcoma grade 1 will be discussed and its use clarified.
DATA SOURCES.—
PubMed (US National Library of Medicine, Bethesda, Maryland) literature review, case review of archival cases at the Massachusetts General Hospital, and personal experience of the authors.
CONCLUSIONS.—
This review has examined primary well-differentiated cartilaginous lesions of bone, including their differential diagnosis and approach to management. Because of the frequent overlap in histologic features, particularly between low-grade chondrosarcoma and enchondroma, evaluation of well-differentiated cartilaginous lesions should be undertaken in conjunction with thorough review of the imaging studies.
Topics: Bone Neoplasms; Chondroblastoma; Chondroma; Chondrosarcoma; Diagnosis, Differential; Humans
PubMed: 31877083
DOI: 10.5858/arpa.2019-0441-RA -
Respiratory Care Dec 2014Endobronchial chondromas are rare benign tumors. They may be part of the Carney triad; however, isolated endobronchial chondromas can occur in the larynx, trachea, and...
Endobronchial chondromas are rare benign tumors. They may be part of the Carney triad; however, isolated endobronchial chondromas can occur in the larynx, trachea, and bronchi. We report a case of an endobronchial chondroma in a 61-y-old man with an incidental 5-mm endobronchial polypoid lesion at the proximal left main bronchus that was later found to be an endobronchial chondroma. Flexible bronchoscopy demonstrated a pedunculated, vascularized, pink mass. An excisional biopsy revealed a well-circumscribed lesion with nodular areas of mature cartilage and myxoid tissue confirmatory of an endobronchial chondroma. We reviewed a total of 23 cases of isolated endobronchial chondromas reported in the medical literature. Despite their rarity, endobronchial chondromas should be considered in the differential diagnosis of endobronchial tumors. Prompt recognition and resection of endobronchial chondromas is important to prevent airway obstruction and its associated complications.
Topics: Biopsy; Bronchial Neoplasms; Bronchoscopy; Chondroma; Humans; Incidental Findings; Male; Middle Aged; Radiography
PubMed: 25233382
DOI: 10.4187/respcare.02673 -
Orphanet Journal of Rare Diseases Sep 2006Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are... (Review)
Review
Enchondromas are common intraosseous, usually benign cartilaginous tumors, that develop in close proximity to growth plate cartilage. When multiple enchondromas are present, the condition is called enchondromatosis also known as Ollier disease (WHO terminology). The estimated prevalence of Ollier disease is 1/100,000. Clinical manifestations often appear in the first decade of life. Ollier disease is characterized by an asymmetric distribution of cartilage lesions and these can be extremely variable (in terms of size, number, location, evolution of enchondromas, age of onset and of diagnosis, requirement for surgery). Clinical problems caused by enchondromas include skeletal deformities, limb-length discrepancy, and the potential risk for malignant change to chondrosarcoma. The condition in which multiple enchondromatosis is associated with soft tissue hemangiomas is known as Maffucci syndrome. Until now both Ollier disease and Maffucci syndrome have only occurred in isolated patients and not familial. It remains uncertain whether the disorder is caused by a single gene defect or by combinations of (germ-line and/or somatic) mutations. The diagnosis is based on clinical and conventional radiological evaluations. Histological analysis has a limited role and is mainly used if malignancy is suspected. There is no medical treatment for enchondromatosis. Surgery is indicated in case of complications (pathological fractures, growth defect, malignant transformation). The prognosis for Ollier disease is difficult to assess. As is generally the case, forms with an early onset appear more severe. Enchondromas in Ollier disease present a risk of malignant transformation of enchondromas into chondrosarcomas.
Topics: Chondrosarcoma; Enchondromatosis; Humans; Prognosis; Risk Factors
PubMed: 16995932
DOI: 10.1186/1750-1172-1-37 -
RoFo : Fortschritte Auf Dem Gebiete Der... Mar 2021Chondrogenic tumors are the most frequent primary bone tumors. Malignant chondrogenic tumors represent about one quarter of malignant bone tumors. Benign chondrogenic... (Review)
Review
BACKGROUND
Chondrogenic tumors are the most frequent primary bone tumors. Malignant chondrogenic tumors represent about one quarter of malignant bone tumors. Benign chondrogenic bone tumors are frequent incidental findings at imaging. Radiological parameters may be helpful for identification, characterization, and differential diagnosis.
METHODS
Systematic PubMed literature research. Identification and review of studies analyzing and describing imaging characteristics of chondrogenic bone tumors.
RESULTS AND CONCLUSIONS
The 2020 World Health Organization (WHO) classification system differentiates between benign, intermediate (locally aggressive or rarely metastasizing), and malignant chondrogenic tumors. On imaging, typical findings of differentiated chondrogenic tumors are lobulated patterns with a high signal on T2-weighted magnetic resonance imaging (MRI) and ring- and arc-like calcifications on conventional radiography and computed tomography (CT). Depending on the entity, the prevalence of this chondrogenic pattern differs. While high grade tumors may be identified due to aggressive imaging patterns, the differentiation between benign and intermediate grade chondrogenic tumors is challenging, even in an interdisciplinary approach.
KEY POINTS
· The WHO defines benign, intermediate, and malignant chondrogenic bone tumors. · Frequent benign tumors: osteochondroma and enchondroma; Frequent malignant tumor: conventional chondrosarcoma. · Differentiation between enchondroma versus low-grade chondrosarcoma is challenging for radiologists and pathologists. · Pain, deep scalloping, cortical destruction, bone expansion, soft tissue component: favor chondrosarcoma. · Potential malignant transformation of osteochondroma: progression after skeletal maturity, cartilage cap thickness (> 2 cm adult; > 3 cm child). · Potentially helpful advanced imaging methods: Dynamic MRI, texture analysis, FDG-PET/CT.
CITATION FORMAT
· Engel H, Herget GW, Füllgraf H et al. Chondrogenic Bone Tumors: The Importance of Imaging Characteristics. Fortschr Röntgenstr 2021; 193: 262 - 274.
Topics: Adult; Bone Neoplasms; Child; Chondroma; Chondrosarcoma; Humans; Osteochondroma; Positron Emission Tomography Computed Tomography
PubMed: 33152784
DOI: 10.1055/a-1288-1209