Cancer surveillance in children with Ollier Disease and Maffucci Syndrome

Diezi, Manuel; Zambelli, Pierre‐Yves; Superti‐Furga, Andrea; Unger, Sheila; Renella, Raffaele

doi:10.1002/ajmg.a.62078

Cited by 3 publications

(4 citation statements)

References 22 publications

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“…Starting at 25 years of age, individuals should undergo a thorough clinical examination along with a full-body MRI every other year due to the risk of chondrosarcoma, brain tumors, and other malignancies. [19,20] MRI findings such as bone edema, periosteal reaction, and soft tissue edema may indicate a high-grade malignant transformation of chondral tumors in patients with enchondromatosis. [21] This study has limitations.…”

Section: Discussionmentioning

confidence: 99%

Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study

Salduz,

Bayram,

Bulakci

2024

Medicine

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The columnar cartilage pattern is characterized by parallel aligned cartilage tissue columns related to the physis without matrix calcification separated by the surrounding osseous tissue. Usually, it is seen in patients with multiple enchondromas. The objective of this study was to elucidate the clinical and radiological features of this rare radiological pattern in the physis, which remains unfamiliar to most physician. We retrospectively evaluated the clinical features and imaging findings of 15 patients (9 men and 6 women) who have a columnar pattern with varied spectrum of enchondromatosis. On X-ray and computed tomography (CT) examination, all these lesions were seen as vertical or oblique oriented tubular zones, which have relatively low radiologic density compared with normal bone. The lesions have similar signal characteristics relative to epiphyseal cartilage plates, on T1W and T2W magnetic resonance images. Columnar pattern was observed in different appearances from one single column in one physis to multiple columns in multiple physis. The mean follow-up was 62 months (range: 36–96 months). The mean age was 9.7 (range: 4–14) years at the initial admission. Eight patients had 3 or less affected physis. Five patients had only one affected physis. We defined these patients’ group who had up to 3 affected physis as “limited enchondromatosis with columnar pattern (LE-CP).” We observed that most of the columnar cartilage was turning into the normal bone via endochondral ossification. Based on our observations, the columnar pattern is a rare manifestation of the enchondromas. Columnar pattern, along with the related physis, acts as a normal endochondral ossification process, and surgery is not necessary unless there is a risk of fracture or severe deformity. Further awareness of this unique subset of patients may improve our understanding of the disease and lead to better patient outcomes. We have modified non-hereditarily enchondromatosis into 2 categories: limited enchondromatosis with the columnar pattern and multiple enchondromatosis. We believe that LE-CM reflects a developmental anomaly of the physis rather than a true neoplasia, and it acts as a normal endochondral ossification process. Level IV (case series)

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Section: Discussionmentioning

confidence: 99%

Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study

Salduz,

Bayram,

Bulakci

2024

Medicine

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“…В связи с высоким риском малигнизации энхондром при болезни Олье (до 50 %) и необходимостью лечения сарком костей в специализированных центрах пациентам до 18 лет для оценки необходимости хирургического вмешательства каждые 6-12 мес рекомендуется проводить рентгенографические исследования выявленных новообразований. Взрослым больным следует выполнять такие исследования опухолевых поражений каждые 12-24 мес с оценкой динамики роста опухолей [14]. При значительном увеличении энхондром, влияющем на качество жизни пациентов, повреждении костной ткани и патологическом переломе необходимы МРТ и гистологическое исследование для диагностики злокачественного процесса.…”

Section: Discussionunclassified

Clinical case of treatment of secondary chondrosarcoma developed due to Ollier disease

Замилов

Menshikov

Musin

et al. 2023

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Ollier disease is a rare non-hereditary disorder of the bone tissue characterized by development of multiple benign bone tumors – enchondromas. One of the dangerous complications of this pathology is tumor transition into chondrosarcoma. Currently, there are no drug therapies for Ollier disease. Surgical treatment is performed in case of complications (chondrosarcoma, pathological fracture).The article presents a clinical case of chondrosarcoma treatment in a 42-year-old male with Ollier disease diagnosed when the patient was 8 years old. Since 2021, the patient noted intensive tumor growth on the right foot and left calf. In August of 2022, the patient sought medical help at the Republican Clinical Oncological Dispensary of the Bashkortostan Ministry of Health. Examination showed synchronous malignant transformation of enchondromas of the right foot and left calf confirmed by histological exam. Due to tumor advancement, surgical treatment was performed. Other enchondroma lesions are being watched.

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“…The pathogenesis is unknown, which is probably attributable to a failure of the normal enchondral ossification resulting from the proliferation of ectopic islands of chondroid tissue or to the incapacity of the epiphyseal plate to become mature, causing residual chondroid proliferation in the bones ( 18 ). The NADP-dependent isocitrate dehydrogenase (IDH1) gene mutations have been shown to be key events in the development of enchondromas ( 2 ). On x-ray film, enchondromas typically appear as osteolytic lesions (medullary) with well-defined, sclerotic margins, endosteal erosion, and ground glass appearance of the matrix, which is the main diagnosis of enchondromas.…”

Section: Discussionmentioning

confidence: 99%

“…The adult subtype accounts for 95% of granulosa cell tumors; the juvenile subtype accounts for 5% and characteristically develops before puberty. Multiple enchondromas are rare non-hereditary benign tumors first reported by Ollier in 1899, also known as Ollier’s disease (OD), with a prevalence of approximately 1/100,000 ( 2 ). At present, more than 10 cases of ovarian granulosa cell tumor combined with enchondroma have been reported.…”

Section: Introductionmentioning

confidence: 99%

Ovarian juvenile granulosa cell tumors with Ollier’s disease in children with IDH1 gene somatic mutation

Zhang

Hua

et al. 2023

Front. Endocrinol.

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ObjectiveThe aim of this study was to explore the symptoms, treatment, and pathogenesis of ovarian juvenile granulosa cell tumors with Ollier’s disease in children.MethodsFrom October 2019 to October 2020, clinical data were retrospectively analyzed for one case of ovarian juvenile granulosa cell tumors with Ollier’s disease. Whole-exome sequencing and Sanger sequencing were used to detect gene mutation in ovarian tumor and chondroma tissue. NADP-dependent isocitrate dehydrogenase-1 (IDH1) and S6 ribosomal protein expression levels in cells transfected with wild-type or mutant plasmid were analyzed by Western blot.ResultsThe 4-year-old female showed multiple skeletal deformities, bilateral breast development with chromatosis, and vulvar discharge. Sex hormone assay suggested that estradiol and prolactin were elevated, and the x-ray of limbs suggested enchondroma. Pelvic ultrasound and abdominal CT revealed a right ovarian solid mass. Pathologic examination of the right ovarian solid mass showed a juvenile granulosa cell type. A c.394C>T (p. Arg132Cys) mutation of the IDH1 gene was detected in both the ovarian juvenile granulosa cell tumors and enchondroma. Transfection of HeLa cells with either WT or Mut plasmid caused 4.46- or 3.77-fold overexpression of IDH1 gene compared to non-transfected control cells, respectively. R132C mutation inhibited the phosphorylation of S6 ribosomal protein, which is central to the mTOR pathway. Postoperatively, estradiol and prolactin levels fell to values normal for her age and bilateral breast gradual retraction.ConclusionThe incidence of ovarian juvenile granulosa cell tumors with Ollier’s disease in children may be caused by generalized mesodermal dysplasia; IDH1 gene mutation may play a facilitated role in this process. Surgical operation is the main treatment. We suggest that patients with ovarian juvenile granulosa cell tumors and Ollier’s disease should undergo regular investigation.

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Cancer surveillance in children with Ollier Disease and Maffucci Syndrome

Cited by 3 publications

References 22 publications

Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study

Rare radiological manifestation of enchondromatosis in children: Columnar pattern: A retrospective cohort study

Clinical case of treatment of secondary chondrosarcoma developed due to Ollier disease

Ovarian juvenile granulosa cell tumors with Ollier’s disease in children with IDH1 gene somatic mutation

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