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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 -
Pediatric Rheumatology Online Journal Jul 2022Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be...
BACKGROUND
Acro-osteolysis (AO) refers to resorption of the distal finger and toe phalanges. It displays two patterns: (i) diffuse AO and (ii) transverse or bandlike AO. AO can be a sign of local distress (e.g. of toxic origin), but is very often a sign of a constitutional or systemic acquired disorder.
CASE PRESENTATION
A 15-year-old girl was referred to a paediatric rheumatologist for recurrent pain in her fingertips. She presented a particular cross-sectional AO associated with the presence of intraosseous cysts and bone fragility with atypical fractures. Initial laboratory tests and radiological examination did not allow an etiological diagnosis. Genetic studies revealed a 12p11.22-p11.23 microduplication of 900 kb including the PTHLH (parathyroid hormone-like hormone) gene, which encodes for a hormone involved in the regulation of endochondral ossification and differentiation of chondrocytes, via its PTHLH receptor.
CONCLUSIONS
To date, 12p11.22-p11.23 duplications have been reported in five families with skeletal abnormalities, and in particular AO and enchondromatosis associated with bone fragility. This new observation, added to the other reported cases, suggests a close relationship between the presence of this microduplication and the skeletal abnormalities found in the patient. We suggest the descriptive name ABES (acro-osteolysis, bone fragility and enchondromatosis syndrome) to designate this disorder.
Topics: Acro-Osteolysis; Adolescent; Child; Cross-Sectional Studies; Enchondromatosis; Female; Humans; Parathyroid Hormone-Related Protein; Radiography
PubMed: 35908058
DOI: 10.1186/s12969-022-00720-8 -
International Journal of Surgery Case... Jul 2023Childhood colorectal cancers are extremely rare and so is Osteochondromatosis. Both diseases do not have epidemiological records in African countries. The aim of this...
INTRODUCTION AND IMPORTANCE
Childhood colorectal cancers are extremely rare and so is Osteochondromatosis. Both diseases do not have epidemiological records in African countries. The aim of this report is to present a rare coexistence of CRC and multiple enchondromas in a child.
PRESENTATION OF CASE
A case of a 12-year-old boy who presented with a large bowel obstruction secondary to an advanced tumor of the descending colon. He was also diagnosed with multiple osteochondromas affecting legs, arms, ribs, scapula, clavicle and pelvis. No positive family history was recorded. An urgent left hemicolectomy and diverting transverse colostomy was done. The colon can as stage IIIB and the patient received adjuvant chemotherapy. After 8 months of follow up, the colostomy was successfully reversed without any endoscopic signs of tumor growth or distant metastasis.
CLINICAL DISCUSSION
Colorectal cancer in childhood is rare. It may present with aggressive histological subtypes in children as compared to adults. There is little to no reports on the coexistence of colorectal cancer and multiple Osteochondromatosis. Microsatellite instability in DNA tumor is common in Colon Cancer and variety of mutations of EXT-1 and EXT-2 genes goes with Enchondromatosis.
CONCLUSION
The coexistence of two rare conditions is the remarkable issue in this case report. There are no prior reports in literature. Further genomic sequencing maybe required to better understand this coexistence.
PubMed: 37354823
DOI: 10.1016/j.ijscr.2023.108427 -
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 -
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 -
Radiology Case Reports Aug 2021Ollier disease is a rare condition presenting with enchondromas in an irregular distribution within the medullary cavity of bones. The disease is well known for...
Ollier disease is a rare condition presenting with enchondromas in an irregular distribution within the medullary cavity of bones. The disease is well known for sarcomatous transformation to chondrosarcomas. It also increases the risk of other malignancies like leukemia, ovarian tumors, and glial tumors. Central nervous system malignancies associated with Ollier disease are thought to arise by somatic IDH mosaicism with their atypical features of distribution, multifocality, and age of onset. We present a case with imaging consistent with diffuse midline glioma in a patient with Ollier disease. We conclude with a brief review of the literature on Ollier Disease with a focus on central nervous system malignancies, tumorigenesis and pathophysiology.
PubMed: 34194594
DOI: 10.1016/j.radcr.2021.05.046 -
Journal of Pediatric Genetics Mar 2024Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short...
Spondyloenchondrodysplasia (SPENCD) is a rare spondylometaphyseal skeletal dysplasia with characteristic lesions mimicking enchondromatosis and resulting in short stature. A large spectrum of immunologic abnormalities may be seen in SPENCD, including immune deficiencies and autoimmune disorders. SPENCD is caused by loss of tartrate-resistant acid phosphatase activity, due to homozygous mutations in , playing a role in nonnucleic-acid-related stimulation/regulation of the type I interferon pathway. In this article, we presented a 19-year-old boy with SPENCD, presenting with recurrent autoimmune hemolytic anemia episodes since he was 5 years old. He had short stature, platyspondyly, metaphyseal changes, intracranial calcification, spastic paraparesis, and mild intellectual disability. He also had recurrent pneumonia attacks. The clinical diagnosis of SPENCD was confirmed by sequencing of the gene, and a homozygous c.155A > C (p.K52T) variation was found, which was reported before as pathogenic. In conclusion, in early onset chronic autoimmune cytopenias an immune dysregulation may often have a role in the etiology. Associating findings and immunologic functions should be carefully evaluated in such patients in the light of the literature. The present case shows the importance of multisystemic evaluation for the detection of SPENCD that has a monogenic etiology.
PubMed: 38567175
DOI: 10.1055/s-0041-1736560 -
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 -
Neurology India 2020We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long...
We present a rare case of spinal enchondromatosis in a 15-year-old boy. The patient presented with spastic paraparesis. He also had multiple bony swellings over the long bones. On inquiry it was found that his father had enchondromatosis. Such a familial form of enchondromatosis has not been previously described in the literature.
Topics: Adolescent; Chondroma; Enchondromatosis; Humans; Male; Rare Diseases; Spine
PubMed: 33342888
DOI: 10.4103/0028-3886.304070 -
Research Square Jun 2024Enchondromas are a common tumor in bone that can occur as multiple lesions in enchondromatosis, which is associated with deformity of the effected bone. These lesions...
Single-cell transcriptomic analyses of mouse idh1 mutant growth plate chondrocytes reveal distinct cell populations responsible for longitudinal growth and enchondroma formation.
Enchondromas are a common tumor in bone that can occur as multiple lesions in enchondromatosis, which is associated with deformity of the effected bone. These lesions harbor mutations in and driving expression of a mutant in Col2 expressing cells in mice causes an enchondromatosis phenotype. In this study we compared growth plates from E18.5 mice expressing a mutant with control littermates using single cell RNA sequencing. Data from Col2 expressing cells were analyzed using UMAP and RNA pseudo-time analyses. A unique cluster of cells was identified in the mutant growth plates that expressed genes known to be upregulated in enchondromas. There was also a cluster of cells that was underrepresented in the mutant growth plates that expressed genes known to be important in longitudinal bone growth. Immunofluorescence showed that the genes from the unique cluster identified in the mutant growth plates were expressed in multiple growth plate anatomic zones, and pseudo-time analysis also suggested these cells could arise from multiple growth plate chondrocyte subpopulations. This data identifies subpopulations of cells in control and mutant growth plates, and supports the notion that a mutant alters the subpopulations of growth plate chondrocytes, resulting a subpopulation of cells that become enchondromas at the expense of other populations that contribute to longitudinal growth.
PubMed: 38883785
DOI: 10.21203/rs.3.rs-4451086/v1