TY - JOUR
T1 - Malignant melanotic nerve sheath tumor in pleural effusion
T2 - Deceitful cytology with significant repercussions
AU - Jackson, Christopher
AU - Linos, Konstantinos
AU - Liu, Xiaoying
N1 - Funding Information:
The authors acknowledge the support of the Laboratory for Clinical Genomics and Advanced Technology in the Department of Pathology and Laboratory Medicine of the Dartmouth Hitchcock Health System.
Publisher Copyright:
© 2021 Wiley Periodicals LLC.
PY - 2022/3
Y1 - 2022/3
N2 - Malignant melanotic nerve sheath tumor (MMNST) is an exceedingly rare and aggressive neoplasm of Schwann cell origin that has seldom been described in the cytopathology literature. Herein we present a case of a 60-year-old female with a 3.8 cm presacral mass that was diagnosed as a MMNST. A molecular workup demonstrated TERT promoter -124C > T and TET2 Q891* gene mutations. Within 2 years of her initial diagnosis, she had developed widespread metastasis and pleural effusions. A cytologic workup of the pleural fluid revealed clusters of vacuolated epithelioid cells with enlarged nuclei, prominent nucleoli, and occasional multinucleation. The lesional cells were positive for SOX10, S100-protein, Melan-A, and HMB45, while negative for Calretinin, MOC31, and monoclonal CEA. In this clinicopathologic context, a diagnosis of metastatic MMNST was rendered. Awareness of this entity and its clinical presentation, along with a critical understanding of its molecular findings and that of imitators, is crucial in achieving an accurate diagnosis.
AB - Malignant melanotic nerve sheath tumor (MMNST) is an exceedingly rare and aggressive neoplasm of Schwann cell origin that has seldom been described in the cytopathology literature. Herein we present a case of a 60-year-old female with a 3.8 cm presacral mass that was diagnosed as a MMNST. A molecular workup demonstrated TERT promoter -124C > T and TET2 Q891* gene mutations. Within 2 years of her initial diagnosis, she had developed widespread metastasis and pleural effusions. A cytologic workup of the pleural fluid revealed clusters of vacuolated epithelioid cells with enlarged nuclei, prominent nucleoli, and occasional multinucleation. The lesional cells were positive for SOX10, S100-protein, Melan-A, and HMB45, while negative for Calretinin, MOC31, and monoclonal CEA. In this clinicopathologic context, a diagnosis of metastatic MMNST was rendered. Awareness of this entity and its clinical presentation, along with a critical understanding of its molecular findings and that of imitators, is crucial in achieving an accurate diagnosis.
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U2 - 10.1002/dc.24895
DO - 10.1002/dc.24895
M3 - Article
C2 - 34698454
AN - SCOPUS:85118145214
SN - 8755-1039
VL - 50
SP - E76-E80
JO - Diagnostic Cytopathology
JF - Diagnostic Cytopathology
IS - 3
ER -