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Spindle-cell hemangiomas

Case contributed by Francis Fortin
Diagnosis certain

Presentation

Multiple blueish lesions on the left upper limb, especially the hand. Lesions first appeared at around 8 years of age, progressively increasing in size and number. Prior resection of a lesion and numerous ineffective sclerotherapy sessions. Moderate associated pain.

Patient Data

Age: 25 years
Gender: Female
mri

Innumerable nodular lesions in the soft tissues of the left hand, predominantly on the ulnar side. Lesions are very high signal on T2WI, mildly elevated on T1WI and progressively enhance after gadolinium administration, except for the internally thrombosed portions (phleboliths).

If isolated, the lesions would be very characteristic on MRI for soft tissue venous malformations, but their extent and distribution suggest spindle-cell hemangiomas. Absence of visible bony lesions excludes Maffucci syndrome.

ultrasound

On ultrasound, the lesions have a pseudo-solid appearance, being mostly compressible (not shown) except for the parts with calcified phleboliths.

Patient underwent an excisional biopsy of one of the lesions.

Pathology report (translated from French):

Macroscopic examination:

The resection specimen, addressed fresh, is oriented by a 12 o'clock wire. It measures 20 mm high by 13 mm wide by 10 mm thick and is topped by a 19 x 14 mm skin flap. The resection limits are inked before fixation and opening: right half (12 h to 6 h) in green and left half (6 h to 12 h) in orange. Transverse sections are then taken from top to bottom (from 12 to 6 o'clock) and show a nodular lesion of about 10 mm long axis, hemorrhagic with the presence of clotted material in cystic cavities. The resection appeared macroscopically complete, sometimes just abutting the lesional margins. Inclusion in totality after fixation in buffered formalin (blocks A to D).

Microscopic examination:

The aspects are those of a relatively well-delineated lesion that appears to be essentially developed in a large venous-like vascular cavity in the hypodermis and deep dermis. It consists of large, cavernous, more or less communicating vascular cavities lined by a non-atypical squamous endothelial lining. These cavities are filled with blood and some are the site of thrombosis, some partly calcified (phleboliths). There is a spindle cell or epithelioid cell contingent, sometimes associated with smooth muscle fibers that are arranged in the partitions separating the ectatic cavities. The spindle cells are more or less arranged in bundles and are more or less associated with a collagenous stroma. Some cells appear vacuolated. They are devoid of cytological atypia and no mitosis patterns are identified. There is a minimal inflammatory contingent with a predominance of mononucleated cells, as well as some siderophages. In the vicinity of the lesion, a few thick-walled arterial-like vascular structures are observed. The lesion was focally flush with the excision margins at about 9 o'clock, but the excision appeared to be complete. The other excision margins are in sano in all points. On the surface, the squamous lining is cytologically regular and sometimes slightly raised. No other tissue component was observed. On immunohistochemistry (block B), the endothelial cells and the spindle cells are CD31+, Glut1-. D2 40 is focally expressed especially in the periphery of the lesion. Smooth muscle actin is expressed in the smooth muscle bundles bordering the vessels or associated with spindle cells. The Ki-67 proliferation index is very low.

Conclusion:

In summary, morphologically and immunohistochemically, the aspects seem to us to be well compatible with a spindle-cell hemangioma. A molecular biology search for IDH1/IDH2 mutation is in progress. The differential diagnosis that could be discussed on the histological level is that of papillary endothelial hyperplasia/Masson's tumor on venous malformation.

Genetic testing on the sample revealed an oncogenic mutation of IDH1 (gene IDH1, exon 4, variant c.394C>T, protein impact p.Arg132Cys, allelic frequency 21%).

Case Discussion

Characteristic appearance of spindle-cell hemangiomas, caused by an oncogenic IDH1 mutation. Individually, lesions are essentially indistinguishable on imaging from soft tissue venous malformations. Absence of visible bony lesions excludes Maffucci syndrome.

A trial of ivosidenib, a selective IDH1 inhibitor, was initiated.

Case courtesy of Pr Laurent Guibaud.

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