Human Pathology: Case Reports最新文献

Anaplastic lymphoma kinase rearrangement-associated renal cell carcinoma (ALK-RCC) is a provisional renal cell carcinoma subtype with a growing list of published fusion partners. VCL-ALK gene fusion represents an uncommon fusion partner (only 6 reported cases), almost always associated with sickle cell trait and typically in a pediatric population. Herein, we report only the second case of VCL-ALK gene fusion ALK-RCC from a 31-year-old female without associated sickle cell trait, and also only the third reported case occurring in an adult patient. The tumor (measuring 8.5 cm and confined to the kidney) demonstrated mostly solid growth, pleomorphic nuclei, variably rhabdoid to vacuolated cytoplasm, and showed diffuse strong immunoreactivity for both PAX8 and ALK stains. Gene panel sequencing confirmed VCL-ALK gene fusion in the tumor. This study expands the clinical framework for diagnostic consideration of this rare tumor with potential targeted pharmacotherapy.

Conjoined twins occurred in one of every 58,000 births. Parapagus dicephalus tribrachius with a single heart is a scarce variant of conjoined twins. A male parapagus conjoined twins with tribrachius was born by cesarean section with severe asphyxia, weighing 3170 g from 25 years old mother with G1P0A0, 35–36 weeks gestation. There is one umbilical cord, and the placenta consists of 1 amnion, one chorion. The baby has a single heart, a pair of the lung, a single stomach, duodenum, liver, double columna vertebralis with the single pelvis, one penis, undescended right, and left testes, one anus, and a pair of inferior extremities. After 28 h of treatment, the patient's condition became unstable, deteriorated, and died. This case reminds us of the importance of antenatal care and ultrasound examination since early pregnancy.

Extranodal NK/T-cell lymphoma, nasal type, is an unusual Epstein-Barr Virus (EBV)-related lymphoma that carries a poor prognosis. Most cases affect upper aerodigestive tract, and secondarily may extend to skin, lungs, testis, and other sites. Extranodal NK/T-cell lymphoma, nasal type, presenting primarily as intestinal lymphoma is rare, and not recognized as a distinct entity and neither is considered as a special subtype of intestinal lymphoma of T-cell lineage. Here, we describe a 36-year-woman who presented with abdominal pain and acute-onset diarrhea. Her clinical course was complicated by intestinal perforation and peritonitis. She died one month later of sepsis. Pathologic examination revealed extranodal NK/T-cell lymphoma, nasal type, confined to the intestine. Immunophenotypically, the neoplastic cells expressed CD3 and Granzyme B, and were positive for EBV-encoded RNA (EBER) by in situ hybridization. From the practical point of view, we highlight the clinical, pathologic and immunophenotypic features that can be useful in the differential diagnosis from other intestinal lymphomas of T-cell lineage.

Mucinous carcinoma of breast is a rare variant of invasive breast carcinoma and usually affects older females and is associated with good prognosis. Human epidermal growth factor receptor 2 (HER2) positivity in these tumors is rare. We describe here a case of advanced stage HER2 + mucinous carcinoma with micropapillary features who underwent complete remission on treatment with radiation therapy and hormonal therapy and presented after eight years with invasive duct carcinoma in the contralateral breast.

Several types of benign and malignant neoplasms harboring GLI1 gene fusions with various partner genes, including ACTB, MALAT1 and PTCH1, have been described. These neoplasms show a spectrum of morphologic features and immunohistochemical profiles. However, the GLI1 gene fusion has not been described in soft tissue myoepithelial neoplasms previously. In this study, we reported a novel TUBA1A-GLI1 gene fusion in soft tissue neoplasm occurring in the chest wall of a 35-year-old male. The neoplasm shows morphologic features and immunophenotype of myoepithelial differentiation. FusionPlex analysis detected TUBA1A-GLI1 fusion in the neoplasm. The fusion transcript is comprised of 3′ end of exon 1 of TUBA1A and 5′ end of exon 6 of GLI1, retaining the FOXP coiled-coil domain and the DNA-binding zinc finger domains of GLI1. Promoter swapping with the TUBA1A (tubulin alpha 1a) gene likely leads to deregulation of GLI1 expression and its downstream targets. Despite the clinical presentation of multifocal disease and regional lymph node metastasis, the neoplasm in our case study appeared to be stable in a 10-month follow-up, suggesting that this neoplasm likely pursues an indolent clinical course. This study expands the morphologic and immunohistochemical spectrum of the neoplasms with GLI1 gene fusions and identifies a novel fusion in soft tissue myoepithelial neoplasms. As the TUBA1A-GLI1 fusion event likely results in activated GLI1 expression, targeting the Hedgehog pathway is a potential therapeutic option for treatment of patients with this neoplasm.

Primary clear cell sarcoma of soft tissue (CCSST) arising from the pleura is an infrequent occurrence, with only two cases reported in the English literature. We report a rare case of pleural CCSST with unusual clinical features and unconventional morphology. A 68-year-old man presented with a large right pleural effusion that developed following a dental abscess. He was treated with thoracentesis and antibiotics for suspected empyema without significant improvement. A CT-guided biopsy was performed and showed a malignant epithelioid neoplasm with significant pleomorphism and melanocytic differentiation, highly suggestive of a melanoma. The diagnosis was subsequently amended to CCSST based on the combined genetic findings (i.e., chromosome 22 abnormality, microsatellite stable status, no evidence of ultraviolet mutational signature, and lack of BRAF or any other mutations commonly identified in melanoma). Apart from the peculiar location, the present case showed several atypical features, such as older age at onset, unusual clinical presentations mimicking an infection, and unconventional morphology with significant pleomorphism and brisk mitotic activity. As such, it may be better classified as atypical CCSST. This case highlights the challenges in diagnosing CCSST and emphasizes the importance of including CCSST in the differential diagnosis of an epithelioid tumor with melanocytic differentiation.

Primary anaplastic large cell lymphoma (ALCL) of the central nervous system (CNS) is a rare entity. Most primary CNS lymphomas are of B-cell origin, including those associated with HIV. We report a case of a 29-year-old woman who presented with worsening headaches and was subsequently diagnosed with primary anaplastic large cell lymphoma, ALK positive of the CNS. On further workup, she was also diagnosed with HIV. This is the first reported case of primary anaplastic large cell lymphoma, ALK positive of the CNS in an HIV-positive individual.

Coccidioidomycosis is endemic to the Southwestern United States as well as parts of Mexico, Central, and South America. Coccidioides infection is typically subclinical or mild and self-limited. Disseminated coccidioidomycosis is uncommon except in immunosuppressed, post-transplant, or pregnant patients. Disseminated coccidioides in immunocompetent individuals is rare. We report a case of a young, apparently immunocompetent, individual who developed disseminated coccidiomycosis diagnosed at the time of a bedside splenectomy for abdominal decompression. Clinical and histological findings are discussed with review of literature.