Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures

2019 ◽  
Vol 32 (3) ◽  
Author(s):  
Ramrada Lekwuttikarn ◽  
James Chang ◽  
Joyce M. C. Teng
Keyword(s):  
Successful Treatment ◽  
Spindle Cell ◽  
Maffucci Syndrome

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 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.

Maffucci syndrome with the spindle cell hemangiomas in the mucosa of the lower lip: a rare case report and literature review

2013 ◽  
Vol 40 (7) ◽  
pp. 661-666 ◽  
Author(s):  
Yu Cai ◽  
Rong Wang ◽  
Xin-Ming Chen ◽  
Yi-Fang Zhao ◽  
Zhi-Jun Sun ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rare Case ◽  
Spindle Cell ◽  
Lower Lip ◽  
Maffucci Syndrome ◽  
Rare Case Report

scholarly journals Successful treatment with carboplatin and nanoparticle albumin-bound paclitaxel in a patient with pulmonary spindle cell carcinoma

2015 ◽  
Vol 15 ◽  
pp. 48-50 ◽  
Author(s):  
Takahiro Tsuji ◽  
Young Hak Kim ◽  
Hiroaki Ozasa ◽  
Yuichi Sakamori ◽  
Hiroki Nagai ◽  
...  
Keyword(s):  
Cell Carcinoma ◽  
Successful Treatment ◽  
Spindle Cell ◽  
Spindle Cell Carcinoma

Spindle cell (Kaposiform) hemangioendothelioma with Kasabach-Merritt syndrome in an infant: Successful treatment with α-2A interferon

1997 ◽  
Vol 28 (5) ◽  
pp. 358-361 ◽  
Author(s):  
Giovanni Deb ◽  
Alessandro Jenkner ◽  
Luigi De Sio ◽  
Renata Boldrini ◽  
Cesare Bosman ◽  
...  
Keyword(s):  
Successful Treatment ◽  
Spindle Cell ◽  
Kaposiform Hemangioendothelioma

Spindle cell hemangioendothelioma: successful treatment with recombinant interleukin-2

2000 ◽  
Vol 142 (6) ◽  
pp. 1238-1239 ◽  
Author(s):  
M. Setoyama ◽  
H. Shimada ◽  
N. Miyazono ◽  
Y. Baba ◽  
T. Kanzaki
Keyword(s):  
Successful Treatment ◽  
Spindle Cell ◽  
Interleukin 2 ◽  
Recombinant Interleukin 2

Ultrastructure of mesotheliomas

1984 ◽  
Vol 42 ◽  
pp. 98-101
Author(s):  
Irving Dardick
Keyword(s):  
Electron Microscopy ◽  
Latent Period ◽  
Spindle Cell ◽  
Spindle Cell Sarcoma ◽  
Metastatic Adenocarcinoma ◽  
Cell Sarcoma ◽  
Cytological Features ◽  
Industrial Use ◽  
Degree Of Differentiation

With the extensive industrial use of asbestos in this century and the long latent period (20-50 years) between exposure and tumor presentation, the incidence of malignant mesothelioma is now increasing. Thus, surgical pathologists are more frequently faced with the dilemma of differentiating mesothelioma from metastatic adenocarcinoma and spindle-cell sarcoma involving serosal surfaces. Electron microscopy is amodality useful in clarifying this problem.In utilizing ultrastructural features in the diagnosis of mesothelioma, it is essential to appreciate that the classification of this tumor reflects a variety of morphologic forms of differing biologic behavior (Table 1). Furthermore, with the variable histology and degree of differentiation in mesotheliomas it might be expected that the ultrastructure of such tumors also reflects a range of cytological features. Such is the case.

Sign in / Sign up

Export Citation Format

Share Document