J Pathol Transl Med.  2018 Jul;52(4):262-266. 10.4132/jptm.2018.05.15.

Cytologic Diagnosis of Metastatic Alveolar Rhabdomyosarcoma in Cerebrospinal Fluid: A Case Report

• Shim B
• Koh J
• Moon JH
• Park IA
• Ryu HS

• KMID: 2417813
• DOI: http://doi.org/10.4132/jptm.2018.05.15

Abstract

Rhabdomyosarcoma is a malignant soft tissue tumor which shows skeletal muscle differentiation. Leptomeningeal metastasis can occur as a late complication, but currently there are no reports that have documented the cytologic features in cerebrospinal fluid (CSF). We report a case of metastatic alveolar rhabdomyosarcoma diagnosed in the CSF of a 28-year-old male who was originally diagnosed with rhabdomyosarcoma on the neck, and that went through systemic therapy. The tumor was positive for anaplastic lymphoma kinase, but progressed despite additional therapy with crizotinib. The CSF specimen revealed small round cells, large atypical cells with abundant cytoplasm and eccentric nuclei, and cells with horseshoe-shaped nuclei. These cytologic findings were in agreement with previous literature and well-correlated with histopathology. This is the first report to document the cytologic feature of rhabdomyosarcoma in CSF. In many cases it is difficult to perform ancillary tests in a CSF specimen and cytopathologists should be aware of the cytomorphologic characteristics to avoid misdiagnosis.

Keyword

Rhabdomyosarcoma; Cytology; Cerebrospinal fluid

MeSH Terms

Adult
Cerebrospinal Fluid*
Cytoplasm
Diagnosis*
Diagnostic Errors
Humans
Lymphoma
Male
Muscle, Skeletal
Neck
Neoplasm Metastasis
Phosphotransferases
Rhabdomyosarcoma
Rhabdomyosarcoma, Alveolar*
Phosphotransferases

Figure

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  Fig. 1. Initial imaging studies. (A) Computed tomography shows multiple enlargements of left cervical lymph nodes. (B) Positron emission tomography reveals hypermetabolic lesion on the left side of the neck.

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  Fig. 2. Microscopic examination of the biopsied lymph node reveals malignant cells with a diffuse sheet-like pattern (A). A few cells show abundant cytoplasm and eccentric nuclei (B), and multinucleated cells are seen (C).  Fibrovascular septa are observed in the neck dissection specimen (D). On immunohistochemistry, tumor cells are positive for myogenin (E) and anaplastic lymphoma kinase (F), and negative for CD3 (G) and CD20 (H).

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  Fig. 3. Relapse in central nervous system. (A) Brain magnetic resonance imaging shows soft tissue lesion in the left ethmoid sinus and leptomeningeal enhancement. (B) In Papanicolau-staining of the cerebrospinal fluid specimen, small-sized cells and a large atypical cell with an eccentric nucleus are observed. (C) Peripherally located, horseshoe-shaped nuclei and frequent karryorhexis are noted.

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