Intracranial angiomatoid fibrous histiocytoma presenting as recurrent multifocal intraparenchymal hemorrhage

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare soft-tissue neoplasm that most commonly appears in the limbs, typically affecting children and young adults. The tumor has a propensity for local recurrence and recurrent hemorrhage but rarely for remote metastasis. To date, only 2 reports have documented an intracranial occurrence of the tumor (1 of which was believed to be metastatic disease). This is the second report of primary intracranial AFH. Additionally, hemorrhage from an intracranial AFH lesion has yet to be reported, and little is known about the radiographic characteristics and biological behavior of these lesions. In this report, the authors describe the case of a patient with recurrent hemorrhage due to primary multifocal intracranial AFH. Initially misdiagnosed as a cavernous malformation and then an unusual meningioma, the tumor was finally correctly identified when there was a large enough intact resection specimen to reveal the characteristic histological pattern. The diagnosis was confirmed using immunohistochemical and molecular studies.

Angiomatoid fibrous histiocytoma: clinicopathological and molecular characterisation with emphasis on variant histomorphology

“…The anatomical distribution of our cases with uncommon clinicopathological features was consistent with previously reported experiences on ordinary AFHs, being most frequent in the subcutis of extremities, followed closely by trunk and head and neck 1 2. However, thanks to the identification of gene fusions, rare AFHs originating in a variety of non-somatic locations were increasingly reported at an accelerated pace, such as the lung,9 10 mediastinum,11 12 ovary,4 brain13 14 and bone15. The vast majority of AFHs occur in the first two decades of life,2 3 while four cases (30.8%) in this series were diagnosed in patients aged over 20 years.…”

EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location

“…Our findings do not refute the existence of intracranial AFH, as two well-documented examples have been reported in the literature showing EWSR1-ATF1 fusion in the occipital lobe of a 25 year-old man and an EWSR1 rearrangement in the temporal lobe of a 35 year-old man. 25,26 We have also identified an additional brain AFH from our files, with classic morphologic features and EWSR1-ATF1 fusion occurring in the temporal lobe of a 59 year-old man.…”

Angiomatoid Fibrous Histiocytoma: The Current Status of Pathology and Genetics

“…1 Lesions can also present with symptoms related to the anatomic site or may be detected incidentally. 6 Other more frequent sites for AFHs are the trunk and head and neck; occurrence in nonsomatic soft tissue sites is rare but increasingly documented, and unusual primary sites include the brain, 7,8 lungs, 7-9 mediastinum, 6,9,10 retroperitoneum, 6 omentum, 11 ovary, 6 vulva, 6 and bone. 9,10 Extrasomatic AFHs also show a higher mean age at presentation (35 years compared with 12-18 years for somatic cases) 6 and tend to be larger neoplasms.…”

“…Tumors with different fusions can occur at specific anatomic sites; for example, both EWSR1-CREB1 and EWSR1-ATF1 fusions have been documented in pulmonary AFH. 8,28 The type of gene fusion has not yet been shown to correlate with clinical, histologic, or immunohistochemical differences. 27 Therefore, molecular and molecular cytogenetic investigations are crucial in confirming the diagnosis of AFH, and fluorescence in situ hybridization (FISH) for EWSR1 rearrangement and reverse transcription-polymerase chain reaction (RT-PCR) to assess for specific fusion transcripts are valuable ancillary diagnostic aids, which should ideally be used in a complementary manner.…”