Chordoma: Diagnosis by fine‐needle aspiration biopsy with histologic, immunocytochemical, and ultrastructural confirmation

Abstract

Five cases of chordoma, diagnosed by fine-needle aspiration (FNA) biopsy, are presented. Four cases were histologically confirmed, and in one, immunocytochemical and ultrastructural studies were performed on both the aspirate and tissue specimen. Four cases presented as sacral masses, while in the fifth case, a destructive lesion of the clivus extended into the soft tissues of the lateral neck. A spectrum of cytomorphologic features was encountered including the presence of abundant microtissue fragments and cells in a dissociate pattern, often with abundant metachromatic extracellular matrix. Stellate and cuboidal cells often contained intracytoplasmic vacuoles of varying sizes. Intranuclear inclusions, mitotic figures, and anisonucleosis were prominent features of several cases. Immunoperoxidase studies on a single case demonstrated cytoplasmic staining for low- and high-molecular-weight cytokeratins, vimentin, and epithelial membrane antigen, while glial fibrillary acidic protein and carcinoembryonic antigen were negative. Ultrastructural features included the presence of mitochondrial endoplasmic reticulum complexes, occasional desmosome-like junctions, and abundant extracellular matrix adherent to the tumor cells. We believe the cytomorphologic findings are characteristic and, when taken in concert with immunocytochemical and ultrastructural studies, allow differentiation of chordoma from other primary or metastatic neoplasms occurring in bone. As demonstrated in our series, chordoma is often an unsuspected diagnosis. We believe that FNA biopsy of these lesions can lead to a correct preoperative diagnosis and may also be utilized to document recurrence and thus facilitate the evaluation and management of patients with these lesions.

Exfoliative Cytology of Metastatic Chordoma Appearing in the Sputum

“…The cytologic features of this case were not different from those previously reported. 2,3,[5][6][7][8][10][11][12][13][14]16 However, physaliferous cells, which are important to the histologic diagnosis as well as aspiration cytology of chordoma, were scarcely observed in the present cytologic specimens, and none were observed in the sputum. to be essential to FNAC since a lack of vacuolated tumor cells has been reported in one case of chordoma, even in the primary tumor.…”

“…The sites of the metastasis are predominantly skin, bone, lung and lymph nodes. Chordoma has such characteristic histologic and cytologic features that fine needle aspiration biopsy has been recommended for diagnosis not only for local tumors 2,5,8,16 but also in metastatic ones. 3 Exfoliative cytology of chordoma has also been reported for cerebrospinal fluid metastasis 12 that originated in a locally invasive tumor.…”

Chordomas; Crush Intraoperative Analysis

“…Because of its unusual frequency, the diagnosis of chordoma may be difficult to render, especially on fine-needle aspiration biopsy. This distinction in the case of metastases can be made easily, where correlation of previous histology has been done and/or ancillary studies have been performed [10,11].…”

“…The presence of classic physaliferous cells on fine needle aspiration is an essential for the diagnosis of chordoma, vacuolated cells have been missed diagnosed as metastatic lesions or adenocarcinomas [10][11][12][13][14][15]. Cellular chordomas can appear epithelioid in the sacrum and they may resemble metastatic squamous or transitional cell carcinomas.…”

“…Nuclear immunoreactivity of chordomas for S-100 protein appears to be a significant immunomarker for the differential diagnosis, although some adenocarcinomas may also be immunoreactive for S-100 protein [8][9][10][11][12][13][14][15]. Hemangioblastoma is a rare benign vascular tumour commonly seen in the cerebellum.…”