Fine‐needle aspiration cytology with histological correlation of chordoma metastatic to the lung: A diagnostic dilemma

Abstract

Chordoma is an uncommon tumor initially believed to be benign due to the rarity of its metastasis. Cytological, morphological, and immunohistochemical features of chordoma, relating to its origin from notochordal remnants, allows for its accurate diagnosis. A 75-year-old man with a known history of tuberculosis (TB) presented with shortness of breath and a dry cough. A chest X-ray demonstrated a diffuse, infiltrative miliary pattern in both lungs. Bronchial washings submitted for culture and cytological examination did not identify any tuberculous bacilli. Fine needle aspiration cytology (FNAC) showed focal areas of myxoid regions with small, round, uniform mononuclear cells. There was a documented past history of chordoma arising from the L2 vertebrae. Because of the rarity of this lesion in the lung and the limited diagnostic material available with a clinical history of TB and lumbar chordoma, the pathological report rendered on the FNAC was "atypical cells suspicious for metastatic chordoma." A wedge biopsy of the lung confirmed the presence of metastatic pulmonary chordoma. Despite palliative treatment, he died within a year. Although the metastatic potential of chordomas has been recognized and documented, to the best of our knowledge, metastasis of chordoma to the lung diagnosed by FNAC with cytohistological correlation has not been previously reported in the English literature.

A giant lumbar chordoma

“…The findings of Hu et al [ 20 , 21 ] highlight that fibroblast growth factor receptor (FGFR)/ methyl ethyl ketone (MEK)/ extracellular signal regulated kinase (ERK)/brachyury pathway coordinately regulates chordoma cell growth and survival and may represent a novel chemotherapeutic target for chordoma. Jäger et al [ 22 ] suggest that the differential expression of HOX genes in chordomas of the clivus and sacrum suggests an oncofetal mechanism in gene regulation linked to the anatomic site. In the study from Chen et al, [ 13 ] human (hsa-) miR-185-5p was identified as a crucial miRNA in chordoma development via the Wnt signaling pathway.…”

Cytopathological yarn of a suprasellar mass lesion: Diagnostic clues and pitfalls

“…[ 1 2 ] Some authors opine that the role of cytology in preoperative diagnosis of chordoma is simple, reliable, and unquestionable. [ 3 4 5 ] On the contrary, Hernández-León et al . [ 6 ] suggest that cytological study of chordoma is not easy, due in part to differential diagnoses considered and to scarce experience with these tumors.…”

“…[ 8 ] The presence of physaliphorous cells is considered as a defining feature for the diagnosis of chordoma. [ 5 ] However, chordoma has been described even in the absence of physaliphorous cells. [ 9 ] Physaliphorous (drop-bearing) cells may be vacuolated in classical variant and eosinophilic and atypical in the chondroid variant.…”

“…[ 13 ] However, these have not been useful for differential diagnosis since adenocarcinomas show similar pattern of staining. [ 7 ] However, Kanthan and Senger[ 5 ] are of the opinion that immunocytochemical stains may be a useful adjunct in distinguishing chordomas from other lesions. Additional markers such as vimentin, cathepsin K, and E-cadherin have been included in the panel.…”

“…Chordoma is a rare, slow growing, locally aggressive, and uncommonly metastazing neoplasm with high rate of recurrence. [ 5 ] It is a rare bone tumor accounting for 1–4% of all primary malignant bone tumors. It is a low to intermediate grade malignant tumor that recapitulates notochord.…”