An unusual case of microsatellite instability–high/deficient mismatch repair (MSI-H/dMMR) diffuse large B-cell lymphoma revealed by targeted gene sequencing

Microsatellite instability-high/deficient mismatch repair (MSI-H/dMMR) status has been approved as a tissue-agnostic biomarker for immune checkpoint inhibitor therapy in patients with solid tumors. We report the case of an MSI-H/dMMR diffuse large B-cell lymphoma (DLBCL) identified by targeted gene sequencing (TGS). A 90-year-old female who presented with vaginal bleeding and a large mass in the upper vagina was diagnosed with germinal center-B-cell-like DLBCL, which recurred at the uterine cervix at 9 months after chemotherapy. Based on TGS of 121 lymphoma-related genes and the LymphGen algorithm, the tumor was classified genetically as DLBCL of EZB subtype. Mutations in multiple genes, including frequent frameshift mutations, were detected by TGS and further suggested MSI. The MSI-H/dMMR and loss of MLH1 and PMS2 expression were determined in MSI-fragment analysis, MSI real-time polymerase chain reaction, and immunohistochemical tests. This case demonstrates the potential diagnostic and therapeutic utility of lymphoma panel sequencing for DLBCL with MSI-H/dMMR.

Primary Peripheral Gamma Delta T-Cell Lymphoma of the Central Nervous System: Report of a Case Involving the Intramedullary Spinal Cord and Presenting with Myelopathy

Primary central nervous system lymphoma of T-cell origin (T-PCNSL) is rare, and its clinicopathological features remain unclear. Peripheral T-cell lymphoma of γδ T-cell origin is an aggressive lymphoma mainly involving extranodal sites. Here, we report a case of γδ T-PCNSL involving the intramedullary spinal cord and presenting with paraplegia. A 75-year-old Korean woman visited the hospital complaining of back pain and lower extremity weakness. Magnetic resonance imaging revealed multifocal enhancing intramedullary nodular lesions in the thoracic and lumbar spinal cord. An enhancing nodular lesion was observed in the periventricular white matter of the lateral ventricle in the brain. There were no other abnormalities in systemic organs or skin. Laminectomy and tumor removal were performed. The tumor consisted of monomorphic, medium-to-large atypical lymphocytes with pale-to-eosinophilic cytoplasm. Immunohistochemically, the tumor cells were CD3(+), TCRβF1(-), TCRγ(+), CD30(-), CD4(-), CD8(-), CD56(+), TIA1(+), granzyme B(+), and CD103(+). Epstein-Barr virus in situ was negative. This case represents a unique T-PCNSL of γδ T-cell origin involving the spinal cord.

Mucinous Cystadenoma of the Testis: A Case Report with Immunohistochemical Findings

Mucinous cystadenoma of the testis is a very rare tumor. Herein, we report a case of mucinous cystadenoma arising in the testis of a 61-year-old man, along with a literature review. Computed tomography showed a 2.5-cm-sized poorly enhancing cystic mass. Grossly, the tumor was a unilocular cystic mass filled with mucinous material and confined to the testicular parenchyma. Histologically, the cyst had a fibrotic wall lined by mucinous columnar epithelium without atypia. Immunohistochemical staining was positive for cytokeratin 20 and CDX2, as well as focally positive for cytokeratin 7. The pathologic diagnosis was mucinous cystadenoma.

Intrathoracic hemangioendothelioma presenting as refractory unilateral pleural effusion and thrombocytopenia

A variety of diseases are associated with the development of unilateral pleural effusion. Although unilateral pleural effusion is common, refractory unilateral pleural effusion is rare. It is important to make an accurate diagnosis using proper diagnostic tools. Thrombocytopenia is one of the rare conditions occurring from various diseases such as severe infection or autoimmune diseases. It can be life-threatening if accurate diagnosis and treatment are delayed and be a clue to accurate diagnosis in differential diagnosis from refractory pleural effusion. Kasabach-Merrit syndrome (KMS) is often accompanied by extensive vascular tumors and characterized by consumptive coagulopathy with profound thrombocytopenia. It is also important to have a high index of suspicion for the diagnosis. We report a case of KMS in a 2-month-old female infant with a vascular tumor on her left intrathoracic cage, who had presented refractory unilateral pleural effusion and thrombocytopenia. Initially, the patient was diagnosed as having complications of severe infection, and a chest tube was inserted for aggressive treatment. However, her unilateral pleural effusion persisted, and thrombocytopenia and hypofibrinogenemia were refractory. Chest imaging revealed an infiltrating large vascular tumor involving the cardiac border, diaphragm, and chest wall. The patient’s unilateral pleural effusion was misidentified as an infectious condition at the initial stage. As a result of the ultrasonography-guided biopsy, it was revealed to be Kaposiform hemangioendothelioma. The patient was cured after treatment for KMS.

A Comparative Study Between Newly Developed Wave-form and Traditional Straight-form Splints

PURPOSE: Widely used fiberglass splints are made from straight-form material. These prove difficult to mold at joints and form wrinkles, causing complications such as pain, pressure sores, and peripheral nerve palsy. We compared the usefulness of wave-form splints with straight-form splints and the level of satisfaction of these designs from care providers and wearers. METHODS: Eighty-nine (n=89) emergency physicians and orthopedic surgeons participated in this study. The subjects (acting as care providers and mock patients) used wave-form and straight-form material to construct and wear short leg splints, long arm splints, and sugar tong splints. The clinicians were surveyed on their satisfaction as providers and wearers. All questions were measured on scores from 0 and 10(10=maximum score). After splints were removed, subjects were surveyed on the extent of splint wrinkling with scores from 1 to 3(3=maximum wrinkling). RESULTS: Provider satisfaction scores for wave-form splints versus straight-form splints in short leg splint applications were 7.76+/-1.30 vs 6.74+/-1.25 (p=0.000). Provider satisfaction scores for wave-form splints versus straight-form splints in long arm splint applications were 7.73+/-1.33 and 6.73+/-1.59 (p=0.004), respectively. The subjects felt more comfortable wearing wave-form splints, compared to straight-form splints (7.79+/-1.49 vs. 6.79+/-1.58, respectively; p=0.004) and more satisfied (8.03+/-1.35 vs. 7.18+/-1.33, respectively; p=0.003). The frequencies of wrinkle occurrence in wave-form and straight-form splints were 29.7% and 42.2%, respectively (p=0.02). CONCLUSION: Wave-form splints may be more practical for molding and wearing than traditional straight-form splints.