Primary Cerebrospinal Fluid Diagnosis of Pineal Germinoma Melanie J. Kubik, M.D,* Jinous Saremian, M.D.
Extragonadal germ cell tumors are rare and predominantly develop in midline structures of adolescents, with the pineal gland being the most common site. Herein, we present a case of pineal germinoma diagnosed by cytological examination of cerebrospinal fluid (CSF). A 29-year-old man was admitted with a 6 week history of left-sided facial numbness, facial droop, and clinical symptoms of diabetes insipidus. Imaging studies of the brain revealed a 2.5 cm hyperdense pineal region mass with eccentric calcifications and diffuse intraventricular, subependymal, and subarachnoid metastatic disease (Figs. 1 and 2). Biopsy was avoided due to potential adverse effects associated with this highrisk procedure. Instead, a lumbar puncture was performed for cytologic assessment of the CSF. Cytospin smears were either air-dried or alcohol-fixed and stained with Romanowsky and Papanicolaou stains, respectively. Cytomorphology was characterized by hypercellular smears composed of a discohesive population of large atypical cells with a scant to moderate amount of clear cytoplasm, vesicular chromatin pattern, and prominent nucleoli in a background of mature and activated lymphocytes (Figs. 3 and 4). Immunohistochemical stains performed on the cell block material revealed reactivity with placental alkaline phosphatase (PLAP) in the large atypical cells (Fig. 5) and positive staining with leukocyte common antigen in small lymphocytes. The microscopic appearance and
Department of Pathology and Laboratory Medicine, University of Florida College of Medicine, Jacksonville, Florida *Correspondence to: Melanie J. Kubik, MD, University of Florida College of Medicine, Jacksonville, 655 w 8th St Box C-504, Jacksonville, FL 32209, USA. E-mail: [email protected] Received 16 June 2014; Revised 13 November 2014; Accepted 17 December 2014 DOI: 10.1002/dc.23252 Published online 22 January 2015 in Wiley Online Library (wileyonlinelibrary.com).
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immunohistochemical staining were consistent with the diagnosis of germinoma. Based on the cytologic diagnosis of germinoma, targeted chemotherapy followed by cerebrospinal irradiation was implemented. Follow-up imaging studies revealed marked interval decrease in size of the primary tumor and associated metastatic lesions which were no longer clearly discernible. Subsequent CSF cytology analysis failed to display abnormal cells. In general, only 10% of positive CSF cytology specimens are from primary CNS tumors.1 Detection of malignant cells in CSF indicates involvement of leptomeninges.1 Patients with leptomeningeal metastases (LM) may present with variable clinical symptoms including headache and mental changes. Among primary brain tumors,
Extragonadal germ cell tumors are rare and predominantly develop in midline structures of adolescents, with the pineal gland being the most common site. Herein, we present a case of pineal germinoma diagnosed by cytological examination of cerebrospinal fluid (CSF). A 29-year-old man was admitted with a 6 week history of left-sided facial numbness, facial droop, and clinical symptoms of diabetes insipidus. Imaging studies of the brain revealed a 2.5 cm hyperdense pineal region mass with eccentric calcifications and diffuse intraventricular, subependymal, and subarachnoid metastatic disease (Figs. 1 and 2). Biopsy was avoided due to potential adverse effects associated with this highrisk procedure. Instead, a lumbar puncture was performed for cytologic assessment of the CSF. Cytospin smears were either air-dried or alcohol-fixed and stained with Romanowsky and Papanicolaou stains, respectively. Cytomorphology was characterized by hypercellular smears composed of a discohesive population of large atypical cells with a scant to moderate amount of clear cytoplasm, vesicular chromatin pattern, and prominent nucleoli in a background of mature and activated lymphocytes (Figs. 3 and 4). Immunohistochemical stains performed on the cell block material revealed reactivity with placental alkaline phosphatase (PLAP) in the large atypical cells (Fig. 5) and positive staining with leukocyte common antigen in small lymphocytes. The microscopic appearance and
Department of Pathology and Laboratory Medicine, University of Florida College of Medicine, Jacksonville, Florida *Correspondence to: Melanie J. Kubik, MD, University of Florida College of Medicine, Jacksonville, 655 w 8th St Box C-504, Jacksonville, FL 32209, USA. E-mail: [email protected] Received 16 June 2014; Revised 13 November 2014; Accepted 17 December 2014 DOI: 10.1002/dc.23252 Published online 22 January 2015 in Wiley Online Library (wileyonlinelibrary.com).
482
Diagnostic Cytopathology, Vol. 43, No 6
immunohistochemical staining were consistent with the diagnosis of germinoma. Based on the cytologic diagnosis of germinoma, targeted chemotherapy followed by cerebrospinal irradiation was implemented. Follow-up imaging studies revealed marked interval decrease in size of the primary tumor and associated metastatic lesions which were no longer clearly discernible. Subsequent CSF cytology analysis failed to display abnormal cells. In general, only 10% of positive CSF cytology specimens are from primary CNS tumors.1 Detection of malignant cells in CSF indicates involvement of leptomeninges.1 Patients with leptomeningeal metastases (LM) may present with variable clinical symptoms including headache and mental changes. Among primary brain tumors,
