The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)

Burgetová, Andrea; Matéjovský, Z; Zikán, Michal; Sláma, Jiří; Dundr, Pavel; Škapa, Petr; Benková, Kamila; Cibula, David; Fischerová, D.

doi:10.1016/j.tjog.2017.02.002

Cited by 24 publications

(11 citation statements)

References 17 publications

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“…Vascular anomalies were most commonly found in the upper extremity, followed by lower extremity and axial skeleton. While vascular anomalies in MS are known to affect the meninges, tongue and oral mucosa, few case reports in the literature describe visceral organ involvement (Beltrami et al, ; Burgetova et al, ). In our literature review, we found that 15.8% of vascular anomalies were in visceral organs, and, surprisingly, the visceral vascular anomalies were found despite the absence of any visible cutaneous lesions in four patients (2.3%).…”

Section: Discussionmentioning

confidence: 99%

“…Gonadal neoplasms, specifically juvenile granulosa cell tumor, have also been associated with OD and MS. A literature review by Pansuriya et al () found seven cases of juvenile granulosa cell tumor in patients with OD, and six cases in patients with MS. In 2017, Burgetova et al () described 10 cases of juvenile granulosa cell tumor in patients with OD. Our literature review found a slightly higher prevalence of gonadal malignancies in OD compared to MS (8.1%—OD, 3.5%—MS; p = .059).…”

Section: Discussionmentioning

confidence: 99%

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Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Abiad

Robbins

Cohen

et al. 2020

American J of Med Genetics Pt A

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Abiad

Robbins

Cohen

et al. 2020

American J of Med Genetics Pt A

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“…33,34 In addition, both Ollier disease and Maffucci syndrome have been associated with the development of other tumor types, such as ovarian juvenile granulosa cell tumors. 2,35 Metachondromatosis is an inherited autosomal dominant disease caused by loss of function mutations in the PTPN11 gene. 36 Patients with metachondromatosis present early with the development of numerous enchondromas as well as osteochondromas.…”

Section: Enchondromatosismentioning

confidence: 99%

Differential Diagnosis of Cartilaginous Lesions of Bone

Suster

Hung

Nielsen

2020

Archives of Pathology &Amp; Laboratory Medicine

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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.

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“…Tamimi and colleagues reported the first case of an ovarian JGCT in a 15-year-old girl with Ollier disease 6. Since then, 11 cases have been reported in the English literature 7. Ollier disease (OMIM #166000) and Maffucci syndrome (OMIM #614569) are skeletal disorders secondary to a dysplastic mesodermal process affecting the metaphyseal region of the short and long tubular bones.…”

Section: Sex Cord-stromal Tumours (Scst)mentioning

confidence: 99%

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

et al. 2017

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Non-epithelial ovarian tumours are rare neoplasms that occasionally arise in childhood and adolescence. They can be associated with various cancer susceptibility syndromes. The morphological overlap seen across these tumours and their rarity can make the diagnosis challenging. In the case of an incorrect diagnosis, the underlying genetic susceptibility may be missed. In this review, we outline the genetic background of ovarian non-epithelial tumours arising in children, emphasizing the genes harbouring pathogenic germline variants associated with each tumour type. Specifically, juvenile granulosa cell tumours, Sertoli-Leydig cell tumours, sex cord tumours with annular tubules, Sertoli cell tumours, germ cell tumours and small cell carcinoma of the ovary of hypercalcaemic type are discussed in this review. For each tumour type, we detail the personal and family history features and the presenting characteristics of the ovarian tumour as well as the pathological features and molecular markers that point towards a cancer predisposition syndrome. Throughout, we stress the need for specialised pathological review in difficult cases.

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The association of enchondromatosis with malignant transformed chondrosarcoma and ovarian juvenile granulosa cell tumor (Ollier disease)

Abstract: It is important to recognize that when the female patient presents with enchondromatosis and a large unilateral multilocular-solid ovarian mass, the specific diagnosis of granulosa cell tumor can be made with high accuracy.

Cited by 24 publications

References 17 publications

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Natural history of Ollier disease and Maffucci syndrome: Patient survey and review of clinical literature

Differential Diagnosis of Cartilaginous Lesions of Bone

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

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