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Neurology India 2020Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its...
Ollier disease is a rare nonhereditary disorder characterized by multiple enchondromas (enchondromatosis). To report a rare case of Ollier disease with gliomas and its mutation analysis. We hereby report a young lady who presented with seizures. She had a past history of multiple bony swellings in the right foot (operated) and swelling over the anterior chest wall for the past 15 years. MRI brain revealed multiple expansile T2/FLAIR hyperintense lesions in right superior and middle frontal gyri, left basifrontal lobe, and left precuneus in the cortical-subcortical location suggestive of glioma. She underwent biopsy which revealed left basifrontal anaplastic astrocytoma, not otherwise specified, WHO grade III, IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression. We hereby report a rare case of Ollier disease with multicentric intracranial glioma-IDH1 (R132H) negative, P53 mutation positive, and ATRX loss of expression.
Topics: Astrocytoma; Brain Neoplasms; Enchondromatosis; Female; Glioma; Humans; Isocitrate Dehydrogenase; Mutation; Tumor Suppressor Protein p53
PubMed: 32643682
DOI: 10.4103/0028-3886.288998 -
Acta Ortopedica Mexicana 2019Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant...
Maffucci syndrome is characterized by the presence of multiple enchondromes and hemangiomas that can affect soft tissues and other organs. The risk of malignant transformation of lesions is 100% during the life of the individual, with chondrosarcoma being the most frequently associated malignant tumor. We present the case of a 44-year-old man diagnosed with Maffucci syndrome who developed a synchronous double primary: chondrosarcoma and high-grade multicenter fusocellular sarcoma of scapular and tricipital region, was treated with disarticulation interscapule-thoracic, presented accelerated progression and lung disease. There are other neoplasms associated with Maffucci syndrome, such as pancreatic adenocarcinoma, mesenchymal ovarian tumors, gliomas, astrocytomas and pituitary tumors. It is therefore very interesting to report the uncommon association between fusocellular sarcoma and secondary chondrosarcoma in patients with Maffucci syndrome. Follow-up in this group of patients is complex and is based on the intentional search for accelerated growing lesions, paying attention to progressive growth injuries, clinical symptoms or radiological malignancy data.
Topics: Adenocarcinoma; Adult; Bone Neoplasms; Chondrosarcoma; Enchondromatosis; Humans
PubMed: 32253856
DOI: No ID Found -
Neurosurgical Focus: Video Apr 2020Maffucci syndrome is an extremely rare disorder characterized by benign enchondromas, skeletal deformities, and cutaneous lesions composed of abnormal blood vessels....
Maffucci syndrome is an extremely rare disorder characterized by benign enchondromas, skeletal deformities, and cutaneous lesions composed of abnormal blood vessels. Enchondromas rarely arise in the cranial bones. Interdural pituitary transposition is an effective way to gain access to the posterior clinoid, without affecting the function of the pituitary gland. Here, the authors present a case of a posterior clinoid process enchondroma in a patient with Maffucci syndrome. The tumor was resected via an interdural pituitary transposition fashion. Four months postoperatively, the patient's oculomotor function had recovered to normal and the function of the pituitary gland was preserved intact. The video can be found here: https://youtu.be/EYgVwVZuC4g.
PubMed: 36284792
DOI: 10.3171/2020.4.FocusVid.19801 -
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 -
Journal of Obstetrics and Gynaecology... Feb 2020Granulosa cell tumor (GCT) is a rare entity of ovarian malignancies. Juvenile GCT is considered a malignant tumor with an indolent course and tendency toward late...
OBJECTIVE
Granulosa cell tumor (GCT) is a rare entity of ovarian malignancies. Juvenile GCT is considered a malignant tumor with an indolent course and tendency toward late recurrence. However, the association of this tumor and multiple enchondromas has been reported.
CASE PRESENTATION
A 17-year-old female with abnormal uterine bleeding was referred to our center. Ultrasonographic evaluation revealed a mass with origin in right ovary. Patient was worked up to undergo salpingo-oophorectomy, she felt a dull pain in her left lower limb. X-ray imaging was indicative for Ollier's disease at the distal part of femur and proximal part of tibia. Postoperative pathological review was compatible with juvenile granulosa tumor of the right ovary.
CONCLUSION
This case was the first of its kind that ovarian tumor was contralateral to the side involved by enchondromatosis.
PubMed: 32030011
DOI: 10.1007/s13224-019-01243-1 -
Frontiers in Oncology 2019Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and...
Anaplastic astrocytomas are aggressive glial cancers that present poor prognosis and high recurrence. Heterozygous IDH1 R132H mutations are common in adolescent and young adult anaplastic astrocytomas. In a majority of cases, the IDH1 R132H mutation is unique to the tumor, although rare cases of anaplastic astrocytoma have been described in patients with mosaic IDH1 mutations (Ollier disease or Maffucci syndrome). Here, we present two siblings with IDH1 R132H mutant high grade astrocytomas diagnosed at 14 and 26 years of age. Analysis of IDH mutations in the siblings' tumors and non-neoplastic tissues, including healthy regions of the brain, cheek cells, and primary teeth indicate mosaicism of IDH. Whole exome sequencing of the tumor tissue did not reveal any other common mutations between the two siblings. This study demonstrates the first example of IDH1 R132H mosaicism, acquired during early development, that provides an alternative mechanism of cancer predisposition.
PubMed: 32010615
DOI: 10.3389/fonc.2019.01507 -
Journal of Pediatric Neurosciences 2019Glioblastoma (GBM) is an aggressive cancerous neoplasm of the brain that has numerous morphological subtypes. Primitive neuroectodermal differentiation (hereafter,...
Do Glioblastomas with Syndromic Association Have Better Prognosis? A Case of Supratentorial Glioblastoma with Embryonal Tumor Differentiation in a Child with Multiple Enchondromatosis.
Glioblastoma (GBM) is an aggressive cancerous neoplasm of the brain that has numerous morphological subtypes. Primitive neuroectodermal differentiation (hereafter, referred to as embryonal tumor [ET] differentiation) in GBM is one of them and is known to occur in adults. Their presentation in pediatric population is rare and can be a source of diagnostic confusion. The dual pathology leads to doubts where one could ask whether it is ET differentiation in GBM specimen or glial differentiation in ET specimen. This histological discrimination has a bearing on the treatment regimens and prognosis. We report a case of a 10-year-old boy presenting with a supratentorial GBM, isocitrate dehydrogenase wild type with ET differentiation, and multiple benign bony lesions of both extremities. He underwent surgical excision for the brain neoplasm followed by radiotherapy and has shown prolonged survival with no recurrence. In this article, we discuss prognostic factors associated with long-term survival of these tumors.
PubMed: 31908666
DOI: 10.4103/jpn.JPN_82_19 -
Cureus Nov 2019In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and...
In this study, we report a four-year-old male with D-2-hydroxyglutaric aciduria (D2HA) and enchondromatosis with a prior history of hyperpigmented, segmental whorls and streaks on his abdomen who later presented with an eruption of angiokeratoma circumscriptum within a similar distribution. His condition can likely be explained by underlying somatic mosaicism; however, a unifying culprit gene mutation has not yet been identified. To date, only 10 reported cases of D2HA with enchondromatosis are available in the literature with three reported skin findings. This is the first reported case of angiokeratoma circumscriptum associated with the rare condition of D2HA and enchondromatosis.
PubMed: 31890366
DOI: 10.7759/cureus.6157 -
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 -
Indian Journal of Otolaryngology and... Oct 2019Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case...
Maffucci syndrome is an extremely rare sporadic disease, characterized by multiple enchondromas and associated with multiple hemangiomas and/or lymphangiomas. First case was reported in 1881, and fewer than 200 case have been reported to date. Potential sarcomatous malignant transformation have been noticed in previous cases. This report describes the case of 21 years-old male complain of right sided nasal obstruction for 10 months, and right sided aural fullness. Examination revealed multiple asymptomatic nodules in both hands since childhood, that have not been investigated and a large nasopharyngeal mass. Computed tomography, showed a 36 mm in 30 mm diameter lesion extending from the inferior aspect of the clivus and basisphenoid into the nasopharynx, which did not seems to be highly vascular with angiogram. Incidental radiological findings of multiple bubbly lytic bony lesions. Endoscopic sinus surgery and clival lesion excision was performed. Pathology confirmed diagnosis of clival enchondroma with clinical and radiological features consistent with Maffucci syndrome. Clear etiology have not been established yet. Mutations in gene encoding parathyroid hormone receptor 1 found in 10% of enchondromatosis. Mutations in gene encoding isocitrate dehydrogenase 1 and 2 (IDH 1&2) occur in some enchondromas and spindle cell hemangiomas. Maffucci syndrome usually presents with asymmetrical distribution of multiple enchondromas. Malignant transformation is the most concerning potential sequel. Many studies have shown sarcomatous degeneration of enchondromas to chondrosarcomas in average of 25% of cases. Patient counselling and education are crucial in the management. Surgical excision usually for symptomatic patients and suspicious lesions. Nevertheless, all patient of Maffucci syndrome will require a long term follow up and surveillance for the lifelong risk of malignant transformation. Maffucci syndrome diagnosis based on clinical presentation, radiological and histopathological findings. Surgical excision offered for symptomatic patients and for suspicious lesions. Lifelong risk of sarcomatous malignant transformation necessitate a long term surveillance.
PubMed: 31742037
DOI: 10.1007/s12070-018-1463-8