A comprehensive diagnosis of a desmoplastic small round cell tumor of unusual location based on fine‐needle aspiration cytology: Report of a case arising in the parotid gland and review of the literature

Abstract

Desmoplastic small round cell tumor (DSRCT) is rare and a highly aggressive neoplasm that typically involves the soft tissues of the abdomen or pelvis in children or young adults, showing a male predilection. Although it can occurs over a wide age range, the peak incidence is in the third decade of life. DSRCT usually shows widespread abdominal serosal involvement, and overall patient survival is poor. On the other hand, extra‐abdominal DSRCT is very rare. DSRCT in major salivary glands has been reported, but it is extremely rare. In the majority of reported series diagnosis is made by the histological analysis of FFPE tissues together with immunohistochemistry (IHC) and molecular analysis, particularly the demonstration of chromosomal translocation involving EWSR1. Very few cases have been diagnosed so far by Fine Needle Aspiration (FNA) cytology. Moreover ancillary studies have been performed in all reported cases in FFPE samples. There is still controversy and lack of consensus regarding the suitability of cytological samples especially smears for immunocytochemical (ICC) and fluorescence in situ hybridization (FISH), what makes its standardization difficult. We report a case of a primary DSRCT of parotid gland in a 17‐year‐old male diagnosed by FNA cytology. The cytomorphological diagnosis was coupled with ICC and FISH analysis performed on stained smears. We emphasize the feasibility and reliability of cytological smears for the application of immunocytochemical and molecular techniques.

Primary desmoplastic small round cell tumor of the submandibular gland: a case report and literature review

“…Most reported cases of DSRCT are diagnosed by the histological analysis of formalin-fixed paraffin embedded tissues, and so far, very few cases have been diagnosed by fine needle aspiration cytology (FNAC) [ 24 , 45 – 49 ]. FNAC is a cheap, minimally-invasive, and well-tolerated diagnostic technique [ 50 ].…”

“…Increasing evidence shows that FNAC can provide rapid and valuable diagnosis in identifying soft tissue malignancy. The cytological smear of DSRCT is characterized by stromal fragments and small, round blue cells with hyperchromatic nuclei [ 24 , 46 , 47 , 49 , 51 – 53 ]. However, sometimes no fibrosis fragments can be detected in the smear [ 48 , 54 ].…”

Primary Desmoplastic Small Round Cell Tumor of the Mandible: A Case Report and Literature Review

“…Desmoplastic small round cell tumor (DSRCT), which was rst described as a speci c disease by Gerald and Rosai [8,9], is a rare and aggressive soft-tissue sarcoma. Generally, DSRCT originates from the serosal surface of the abdominal cavity [30][31][32][33], but it can also be found in the lung, sinus, bone, and mediastinum [3,[12][13][14][49][50][51][52][53]. Clinical symptoms are usually associated with the tumor sites and lack speci city.…”

Primary Desmoplastic Small Round Cell Tumor of the Submandibular Gland: A Case Report and Literature Review

“…Desmoplastic small round cell tumor (DSRCT), which was rst described as a speci c disease by Gerald and Rosai [8,9], is a rare and aggressive soft-tissue sarcoma. Generally, DSRCT originates from the serosal surface of the abdominal cavity [30][31][32][33], but it can also be found in the lung, eye and salivary gland [3,[43][44][45][49][50][51][52][53]. DSRCT Imaging examinations of DSRCT lack characteristic features.…”