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

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.

Inflammatory Myofibroblastic Tumour in Antimesenteric Border of Descending Colon of Children: A Case Report

2015 ◽  
Vol 3 (1) ◽  
pp. 47-50
Author(s):  
Shahnoor Islam ◽  
AKM Amirul Morshed ◽  
Afiqul Islam
Keyword(s):  
Soft Tissue ◽  
Spindle Cell ◽  
Inflammatory Myofibroblastic Tumour ◽  
Pathological Findings ◽  
Soft Tissue Lesion ◽  
Soft Tissue Tumours ◽  
Inflammatory Pseudotumour ◽  
Erythrocyte Sedimentation ◽  
Antimesenteric Border

Inflammatory myofibroblastic tumour (IMT) occurring at intraabdominal sites in children has rarely been described. Inflammatory pseudotumour is a soft tissue lesion that may be confused with a sarcoma. It is abbreviated as IMT. Inflammatory myofibroblastic tumour, also known as soft tissue tumours, atypical fibromyxoid tumours, pseudosarcomatous fibromyxoid tumour, plasma cell granuloma, pseudosarcomatous myofibrotic proliferation, post-operative spindle cell nodules. In this paper, we describe a case of inflammatory myofibroblastic tumour (IMT) with an unusual constellation of clinical, pathological findings. A 10-year-old girl had an 7-cm intraabdominal mass accompanied by severe anemia, fever, constipation, weight loss, thrombocytosis, elevated erythrocyte sedimentation rate. Laparotomy was performed. The final pathologic diagnosis was IMT. At the most recent follow up (12months) after excision of the tumour, the patient was symptom-free and there was no evidence of tumour recurrence.J. Paediatr. Surg. Bangladesh 3(1): 47-50, 2012 (January)

Spindle Cell Lipoma of the Posterior Axilla: A Case Report

2008 ◽  
Vol 59 (1) ◽  
pp. 45
Author(s):  
Jee Young Lee ◽  
Kyung Jin Suh ◽  
Sang Yoon Kim
Keyword(s):  
Case Report ◽  
Spindle Cell ◽  
Spindle Cell Lipoma

Spindle cell oncocytoma of adenohypophysis: report of a rare pituitary tumor

2017 ◽  
Author(s):  
Carlos Marques Pontinha ◽  
Manuela Mafra ◽  
Luis Cerqueira ◽  
Amets Sagarribay ◽  
Fernando Fonseca ◽  
...  
Keyword(s):  
Pituitary Tumor ◽  
Spindle Cell ◽  
Spindle Cell Oncocytoma

Differentially expressed miRNAs in spindle cell oncocytoma of the pituitary gland

2019 ◽  
Author(s):  
Lilla Krokker ◽  
Gabor Nyirő ◽  
Lilla Reininger ◽  
Otto Darvasi ◽  
Nikolette Szucs ◽  
...  
Keyword(s):  
Pituitary Gland ◽  
Spindle Cell ◽  
Differentially Expressed ◽  
Differentially Expressed Mirnas ◽  
Spindle Cell Oncocytoma

Spindle Cell Carcinoma of the Tongue: Fallacies in Its Diagnosis

2018 ◽  
Vol 3 (02) ◽  
Author(s):  
Amrit Kaur Kaler, Shweta C, Smitha Chandra B.C, Rajeev Naik
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Cavity ◽  
Cell Carcinoma ◽  
Cell Population ◽  
Squamous Cell ◽  
Spindle Cell ◽  
Spindle Cell Carcinoma ◽  
Biphasic Tumor ◽  
Carcinoma Of The Tongue ◽  
Ihc Markers

Spindle cell carcinoma is a rare aggressive biphasic tumor, composed of neoplastic proliferation of both epithelial (squamous) and spindle cell population. It constitutes about 1% of all oral cavity tumors 2a and is almost rare on the tongue; only few cases have been reported so far. This variant of squamous cell carcinoma, comprises major diagnostic problems due to its varied histomorphology and resemblance to sarcomatous lesion; hence diligent screening and IHC markers are mandatory for its diagnosis.

Sign in / Sign up

Export Citation Format

Share Document