Journal of Pathology and Translational Medicine

Rhabdomyosarcoma of the skull with EWSR1 fusion and ALK and cytokeratin expression: a case report: Hyeong Rok An, Kyung-Ja Cho, Sang Woo Song, Ji Eun Park, Joon Seon Song; J Pathol Transl Med. 2024;58(5):255-260. Published online September 5, 2024; DOI: https://doi.org/10.4132/jptm.2024.08.15

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Abstract PDF: Rhabdomyosarcoma (RMS) comprises of heterogeneous group of neoplasms that occasionally express epithelial markers on immunohistochemistry (IHC). We herein report the case of a patient who developed RMS of the skull with EWSR1 fusion and anaplastic lymphoma kinase (ALK) and cytokeratin expression as cytomorphologic features. A 40-year-old man presented with a mass in his forehead. Surgical resection was performed, during which intraoperative frozen specimens were obtained. Squash cytology showed scattered or clustered spindle and epithelioid cells. IHC revealed that the resected tumor cells were positive for desmin, MyoD1, cytokeratin AE1/ AE3, and ALK. Although EWSR1 rearrangement was identified on fluorescence in situ hybridization, ALK, and TFCP2 rearrangement were not noted. Despite providing adjuvant chemoradiation therapy, the patient died of tumor progression 10 months after diagnosis. We emphasize that a subset of RMS can express cytokeratin and show characteristic histomorphology, implying the need for specific molecular examination.

Intraoperative frozen cytology of intraosseous cystic meningioma in the sphenoid bone: Na Rae Kim, Gie-Taek Yie; J Pathol Transl Med. 2020;54(6):508-512. Published online July 1, 2020; DOI: https://doi.org/10.4132/jptm.2020.05.21

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Meningiomas in bone are rarely subjected to fine-needle aspiration diagnosis, and those arising in the skull bone with a cystic presentation are rare. A 24-year-old woman presented with subdural hemorrhage, and subsequent radiology depicted an osteolytic mass-like lesion in the sphenoid bone. Intraoperatively, a solid and cystic hemorrhagic lesion mimicking an aneurysmal bone cyst was observed in the sphenoid bone with dural tearing. Frozen cytology showed singly scattered or epithelioid clusters of round to elongated cells intermixed with many neutrophils. Tumor cells had bland-looking round nuclei with rare prominent nucleoli and nuclear inclusions and eosinophilic granular to globoid cytoplasm in capillary-rich fragments. Histology revealed intraosseous meningothelial and microcystic meningioma (World Health Organization grade 1) in right lesser wing of the sphenoid bone. Considering its unusual location and cytologic findings, differential diagnoses included chordoma, chondroma, chondrosarcoma, and aneurysmal bone cyst. The present case posed a diagnostic challenge due to possible confusion with these entities.

Citations

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Middle ear adenoma: Cytohistologic features and differential diagnosis
Abdullah Almajnooni, Matthew Vega, Lin Cheng, Paolo Gattuso, Mary K. Allen‐Proctor
Diagnostic Cytopathology.2023;[Epub] CrossRef
Exploring the role of epidermal growth factor receptor variant III in meningeal tumors
Rashmi Rana, Vaishnavi Rathi, Kirti Chauhan, Kriti Jain, Satnam Singh Chhabra, Rajesh Acharya, Samir Kumar Kalra, Anshul Gupta, Sunila Jain, Nirmal Kumar Ganguly, Dharmendra Kumar Yadav, Timir Tripathi
PLOS ONE.2021; 16(9): e0255133. CrossRef

Multifocal Osteosarcoma of the Skull: Multiple Primary or Metastatic? A Case Report: Hyuck Cho, Bong-jin Park, Yong-Koo Park; Korean J Pathol. 2014;48(2):146-150. Published online April 28, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.2.146

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Abstract PDF

Osteosarcoma of the skull is a very rare condition. Moreover, it is extremely rare for osteosarcoma to present as multiple lesions confined to the skull. A 58-year-old woman was admitted with two masses in the parietal area of the skull, accompanied by mild headache and tenderness. Imaging revealed two masses with a heterogeneous consistency in the cranial bones. Excision craniectomy was performed and the pathology was consistent with osteoblastic osteosarcoma. Two nodules in the heart were found on routine follow-up imaging while the patient was undergoing chemotherapy. The nodules were biopsied and found to be metastatic osteosarcoma.

Citations

Citations to this article as recorded by

Osteosarcoma multicéntrico sincrónico. Un caso en niño de 10 años y revisión de la literatura
Jesús Pérez-García, Osvaldo Velasco-Donado, Karoll Robles-Pérez
Revista Española de Patología.2022; 55: S11. CrossRef
Reconstruction using a frozen autograft for a skull and humeral lesion of synchronous multicentric osteosarcoma after undergoing successful neoadjuvant chemotherapy: a case report and review of the literature
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BMC Surgery.2021;[Epub] CrossRef
What’s that big thing on your head? Diagnosis of a large frontoparietal lesion on an Eastern Zhou skull from Henan, China
Kate Pechenkina, Wenquan Fan, Xiaodong Luo
International Journal of Paleopathology.2019; 26: 84. CrossRef
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Neslihan KURTUL, Nursel YURTTUTAN, A. Yasir BAHAR, Gökmen AKTAŞ
Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi.2019; 14(3): 151. CrossRef
Radiological review of skull lesions
Carrie K. Gomez, Scott R. Schiffman, Alok A. Bhatt
Insights into Imaging.2018; 9(5): 857. CrossRef
Multifocal Osteosarcoma
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Clinical Nuclear Medicine.2017; 42(4): e202. CrossRef

Cranial Fasciitis of Childhood: A case report.: Ok Ran Shin, Kyo Young Lee, Young Shin Kim, Chang Suk Kang, Sang In Shim; Korean J Pathol. 2000;34(2):164-166.

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Abstract PDF: Cranial fasciitis is a rare fibroblastic tumor which shows a predilection for the scalp of young children. We present a child with a rapidly growing mass and lytic skull lesion which on pathologic evaluation was diagnosed as cranial fasciitis. Histologically this lesion was identical to nodular fasciitis which was typically found in the trunk and extremities of adults. Cranial fasciitis is unique in that it may present as a lytic lesion in the skull, but this disease entity is not widely known to pathologists and radiologists, and should be included in the differential diagnosis of fibroblastic lesion occurring in the cranium of young children.

Osteosarcoma of the Skull Resembling Desmoplastic Fibroma: A Case Report.: Ingu Do, Eui Jong Kim, Gook Ki Kim, Yong Koo Park; Korean J Pathol. 2006;40(4):314-317.

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Abstract PDF: Primary osteosarcoma of the skull is a rare finding. We report here on a pathologically proven case of osteosarcoma that presented as a painless mass in the frontal bone of a 7-year-old boy. This unusual form of osteosarcoma had features of desmoplastic fibroma in a large portion of the tumor. We also include a review of the medical literature related to osteosarcoma.

Intracranial Lipoma: A case report.: Young Dae Kim, An Hi Lee, Sun Moo Kim; Korean J Pathol. 1988;22(2):204-207.

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Abstract PDF: Lipoma involving brain and spinal cord is a rare tumor that most commonly located in the midsagittal region. This lesion is usually asymptomatic and has been reported incidentally at postmortem examination. Recently, the CT scan establishes the diagnosis of intracranial lipoma on the basis of typical X-ray absorption and location. The authors experienced a case of intracranial lipoma of occipital lobes. The patient was 7 months-old male who had protruding mass on the occipital region after birth. The mass revealed an uncapsulated lipoma with foca cartilage formation. We report this case with brief review of literatures.

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