Spindle cell hemangioma of nasal passage and ethmoidal sinus in a 4-month old infant

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.

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

Clinical Rhinology An International Journal ◽

10.5005/jp-journals-10013-1177 ◽

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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