Journal of Medical Case Reports

High-Grade Chondrosarcoma Arising from Synovial Chondromatosis: Case Report and Review of the Literature

2023-12-29T21:29:49+00:00

Synovial chondromatosis (SC) is a rare, locally aggressive, benign tumor that presents as a lobulated bundle of hyaline cartilaginous nodules in the joint spaces, sub-synovial tissue, or tenosynovium. SC mainly affects large joints, particularly the knee joint. Although malignant transformation of SC to chondrosarcoma (CS) is possible, only a few cases have been reported. Radiologically, SC can present as an aggressive benign tumor, and adequate tissue sampling is essential for a proper diagnosis in cases of malignant transformation. Insufficient tissue biopsy sampling may miss the transformed malignant areas, resulting in a diagnosis of a benign cartilaginous tumor and inadequate patient management. We report a case of intermediate to high-grade chondrosarcoma occurring in the background of synovial chondromatosis. We also review the current literature on SC and CS and discuss the pathophysiology of the malignant transformation.

Non-mucinous, Invasive Mixed Ductal Lobular Carcinoma with Metastatic Mucinous Features in Lymph Nodes and Overexpression of HER-2 and Estrogen: Case Report and Review of the Literature

2024-01-03T04:26:05+00:00

Invasive ductal carcinoma (IDC) and invasive lobular carcinoma (ILC) are the most common types of invasive breast carcinoma. However, there are several cases where both ductal and lobular characteristic features are present in the same tumor. These types of mixed tumors are referred to as invasive mixed ductal lobular carcinoma (mDLC). Mixed ductal lobular carcinoma represents a unique clinical entity that integrates certain attributes from both lobular and ductal breast carcinoma. Mucinous breast carcinoma is an uncommon type defined as pure mucinous carcinoma (PMC) when it shows at least 90% mucinous component and mixed mucinous carcinoma (MMC) when it shows less than 50% mucinous component. The categorization of invasive breast cancer into discrete subtypes based on tumor histology holds specific importance for diagnostic and prognostic considerations. This report details a case of invasive mixed ductal lobular carcinoma in a 42-year-old woman, notable for the absence of a mucinous component in the primary tumors. At the same time, two out of nine positive axillary lymph nodes exhibit characteristics consistent with mucinous carcinoma. We review the relevant literature and attempt to understand the mechanisms behind the phenomenon of the changing features of a metastatic tumor from the primary tumor.

Biphasic Synovial Sarcoma in a 12-Year-Old Boy with Prominent Glandular Features: Case Report and Review of the Literature

2024-04-27T13:33:58+00:00

Synovial sarcoma (SS) is an uncommon tumor of the soft tissue. The etiology of this tumor is mainly unknown. The name "synovial sarcoma" is misleading, as it has no connection with the synovium despite occurring mostly juxta-articular. The tumor does not arise from or differentiate toward synovium. Due to the rarity of SS, a definitive diagnosis can be challenging. One variant of SS is biphasic synovial sarcoma (BSS). This type of SS displays a dual-cell population, which can lead to incorrect diagnosis when sampling is inadequate. We present a case of a 12-year-old boy who presented with biphasic synovial sarcoma confirmed by molecular testing and misdiagnosed as a malignant adnexal skin tumor. BSS is uncommon and can be confused with other benign and malignant soft tissue tumors. A correct diagnosis of SS is significant as early studies of the utility of targeted medicine and T cell receptor-based immunotherapy are promising for clinical use. We also reviewed the pertinent literature, including differential diagnosis, pathology, recent immunohistochemical and genetic findings, management, and prognosis.

Glomus Tumor of the Shoulder in a 25-Year-Old Woman: Case Report and Review of the Literature

2024-05-03T18:34:19+00:00

Correctly diagnosing and communicating results to patients is one of the most effective ways to ensure proper patient care and maximize effective treatment strategies. When nomenclature contradicts, it can create confusion and barriers between patients and physicians. One example is the diagnosis of a glomus tumor (GT), which has also been referred to as a paraganglioma (PG). However, a glomus tumor is not a paraganglioma and awareness of this distinction is essential. The case we present is a 25-year-old female who presented with a painful left shoulder mass. The mass was surgically excised, and the pathological examination diagnosed it as a glomus tumor. We review the literature regarding this tumor and clarify the distinction between glomus tumor and paraganglioma.

Diffuse Biphasic Mesothelioma in a Patient Initially Misdiagnosed as Sarcomatoid Carcinoma: Case Report and Review of the Literature

2024-05-03T18:38:50+00:00

Diffuse Mesothelioma (DM) is an uncommon, aggressive malignant tumor of the mesothelial cells of the pleura, peritoneum, pericardium, and testicular tunica vaginalis. DM is historically associated with occupational asbestos exposure, and the latent period can be up to 40 years or more. The main histological types of DM are diffuse epithelioid Mesothelioma (DEM), diffuse sarcomatoid Mesothelioma (DSM), and diffuse biphasic Mesothelioma (DBM). According to the 2021 WHO classification of tumors of the pleura, the presence of >10% of each of the epithelioid and sarcomatoid patterns in definitive resection specimens or any percentage of each component in small biopsy and cytology specimens is sufficient to make the diagnosis of diffuse biphasic Mesothelioma (DBM). However, a definitive diagnosis of DBM in small tissue samples can be challenging and lead to an incorrect diagnosis. Considering the legal impact of a diagnosis of DM, optimal diagnosis requires a comprehensive panel of immunohistochemistry (IHC) studies and confirmatory molecular testing. We report a case of a 69-year-old woman with a history of asbestos exposure who presented with multiple pleural, pericardial, and peritoneal plaques and was initially misdiagnosed as sarcomatoid carcinoma. A comprehensive panel of IHC studies and molecular testing confirmed the diagnosis of DBM.

A Rare Case of Primary Cutaneous Ewing’s Sarcoma Diagnosed by Cytology Sampling: Case Report and Review of the Literature

2024-05-03T19:09:34+00:00

Ewing sarcoma (EWS) is an uncommon malignancy of the family of small blue round-cell tumors, with several known translocations involving EWSR1 and the ETS family transcription factors. EWS occurs in bone and soft tissue but rarely in skin. Radiological imaging and clinical presentation are not specific enough to conclude the diagnosis of extraskeletal cutaneous Ewing's sarcoma (CES). In a few small studies, there have been reports of better CES prognoses than other EWS types. Tissue sampling (tissue biopsy or aspiration cytology) and enough immunohistochemistry (IHC) and translocation molecular genetic studies must be done together to make a final diagnosis. We present a case of a 73-year-old female who presented with a cutaneous cheek lesion that was initially misdiagnosed as a benign adnexal tumor. IHC and cytogenetic tests eventually confirmed the tumor's diagnosis of CES after two recurrences. The definitive diagnosis was based solely on fine needle aspiration (FNA) material.