scholarly journals Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

2011 ◽  
Vol 43 (12) ◽  
pp. 1256-1261 ◽  
Author(s):  
Twinkal C Pansuriya ◽  
Ronald van Eijk ◽  
Pio d'Adamo ◽  
Maayke A J H van Ruler ◽  
Marieke L Kuijjer ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Maffucci Syndrome ◽  
Ollier Disease ◽  
Idh1 And Idh2 Mutations ◽  
Spindle Cell Hemangioma

scholarly journals Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

2021 ◽  
pp. mcs.a006127
Author(s):  
Natasha J. Brown ◽  
Zimeng Ye ◽  
Chloe Stutterd ◽  
Sureshni I. Jayasinghe ◽  
Amy Schneider ◽  
...  
Keyword(s):  
Adult Male ◽  
Spindle Cell ◽  
Malignant Tumors ◽  
Digital Pcr ◽  
Peripheral Blood Lymphocytes ◽  
Pcr Analysis ◽  
Gain Of Function ◽  
Maffucci Syndrome ◽  
Increased Risk ◽  
Spindle Cell Hemangioma

Maffucci Syndrome is a rare, highly variable somatic mosaic condition and well-known cancer related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported patients. Features include benign enchondroma and spindle cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 cases have been reported, therefore accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopathology raised the possibility of Maffucci syndrome. DNA was extracted from peripheral blood lymphocytes and tissue surgically resected from a spindle-cell hemangioma. Sanger sequencing and Droplet-digital PCR analysis of the IDH1 gene was performed. We identified a somatic mosaic c.394C>T (p.R132C) variant in exon 5 of IDH1, in DNA derived from hemangioma tissue at ~ 17% mutant allele frequency. This variant was absent in DNA derived from blood. This variant has been identified in the affected tissue of most reported patients with Maffucci syndrome Although the patient has a potentially targetable variant, and there is a recognized risk of malignant transformation in this condition, a decision was made not to intervene with an IDH1 inhibitor. The reasons and prospects for therapy in this condition are discussed.

Unsatisfactory response to sirolimus in Maffucci syndrome‐associated spindle cell hemangiomas

2019 ◽  
Vol 32 (3) ◽  
Author(s):  
Vishal Gupta ◽  
Asit Ranjan Mridha ◽  
Binod K. Khaitan
Keyword(s):  
Spindle Cell ◽  
Maffucci Syndrome

scholarly journals Spindle Cell Hemangioma and Decorin Expression

2012 ◽  
Vol 02 (01) ◽  
pp. 8-10
Author(s):  
Daiki Rokunohe ◽  
Hitoshi Takeda ◽  
Takahide Kaneko ◽  
Takayuki Aizu ◽  
Eijiro Akasaka ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Spindle Cell Hemangioma

Spindle cell hemangioma of femur

2015 ◽  
Vol 0 (0) ◽  
pp. 0
Author(s):  
Sandeep Vijayan ◽  
MonappaAroor Naik ◽  
SharathKumar Rao ◽  
ShamsiAbdul Hameed
Keyword(s):  
Spindle Cell ◽  
Spindle Cell Hemangioma

Skull Base Enchondroma and Chondrosarcoma in Ollier Disease and Maffucci Syndrome

2019 ◽  
Vol 130 ◽  
pp. e356-e361
Author(s):  
Soliman Oushy ◽  
Maria Peris-Celda ◽  
Jamie J. Van Gompel
Keyword(s):  
Skull Base ◽  
Maffucci Syndrome ◽  
Ollier Disease

scholarly journals Rare spindle cell hemangioma of bone: Case report and literature review

2022 ◽  
Vol 17 (3) ◽  
pp. 886-890
Author(s):  
Cong Huang ◽  
Hengsheng Zhang ◽  
Li Guan ◽  
Junde Luo
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Spindle Cell ◽  
Spindle Cell Hemangioma

scholarly journals Gene of the month: IDH1

2020 ◽  
Vol 73 (10) ◽  
pp. 611-615
Author(s):  
Cassandra Bruce-Brand ◽  
Dhirendra Govender
Keyword(s):  
Somatic Mutations ◽  
Oxidative Decarboxylation ◽  
Low Grade ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Downstream Effects ◽  
Diffuse Gliomas ◽  
Ollier Disease ◽  
Mutant Idh1 ◽  
Acute Myeloid

Isocitrate dehydrogenase 1 (IDH1) encodes a protein which catalyses the oxidative decarboxylation of isocitrate to α-ketoglutarate. Mutant IDH1 favours the production of 2-hydroxyglutarate, an oncometabolite with multiple downstream effects which promote tumourigenesis. IDH1 mutations have been described in a number of neoplasms most notably low-grade diffuse gliomas, conventional central and periosteal cartilaginous tumours and cytogenetically normal acute myeloid leukaemia. Post zygotic somatic mutations of IDH1 characterise the majority of cases of Ollier disease and Maffucci syndrome. IDH1 mutations are uncommon in epithelial neoplasia but have been described in cholangiocarcinoma.

scholarly journals Spindle Cell Hemangioma of the Nasal Cavity: A Rare Tumor with Unusual Presentation

2013 ◽  
Vol 6 (3) ◽  
pp. 149-151
Author(s):  
RS Mudhol ◽  
Vijayalaxmi Suranagi ◽  
Anil S Harugop ◽  
Hema B Bannur ◽  
Ganga S Pilli
Keyword(s):  
Nasal Cavity ◽  
Spindle Cell ◽  
Polypoid Lesion ◽  
Middle Turbinate ◽  
Capillary Hemangioma ◽  
Unusual Presentation ◽  
Vascular Tumors ◽  
Recurrent Bleeding ◽  
Rare Tumor ◽  
Spindle Cell Hemangioma

ABSTRACT Vascular tumors as such are rare in the nasal cavity. Few cases of lobular capillary hemangioma, cavernous hemangioma and epitheloid hemangioendothelioma have been reported in the nasal cavity. But, there are no reports of spindle cell hemangioma occurring within the nasal cavity. They usually present as subcutaneous nodules in the extremities. A case of recurrent bleeding polypoid lesion in the left nasal cavity, arising from the middle turbinate which showed features of spindle cell hemangioma is reported for its rarity and unusual presentation. The tumor was excised by minimally invasive transnasal endoscopic approach. How to cite this article Suranagi V, Harugop AS, Bannur HB, Pilli GS, Mudhol RS. Spindle Cell Hemangioma of the Nasal Cavity: A Rare Tumor with Unusual Presentation. Clin Rhinol An Int J 2013;6(3):149-151.

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