Human Pathology: Case Reports最新文献

Fibrin- associated diffuse large B cell lymphoma (FA-DLBCL) is a rare entity, often incidental finding, categorized under “diffuse large B cell lymphoma associated with chronic inflammation (DLBCL-CI)“ in 2017 World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues. Here we report a 48-year-old male with FA-DLBCL who experienced recurrence within one year from initial presentation. The patient had a history of an abdominal aortic aneurism and underwent an endovascular aneurysm repair (EVAR) in 2013. Later in 2019, he was found by CT aortogram to have endoleak of the aneurysm repair. He underwent an open abdominal aortic aneurysm repair with explant of the endovascular stent. The explanted graft was sent to pathology and was found on gross examination to have ample adherent tissue. On microscopic examination this tissue was composed of abundant fibrinous material with several foci of large pleomorphic lymphocytes with enlarged round to polyhedral nuclei, prominent nucleoli, open chromatin, and scanty cytoplasm. Necrosis was also seen in a largest focus of tumor infiltrate. By immunohistochemistry, the atypical, large lymphocytes expressed CD20 and MUM-1; and positive for EBV, by Epstein-Barr virus (EBV) in situ hybridization (EBER-ISH). Together, the diagnosis for FA-DLBCL was made. Further work up by PET scan showed no active disease. The patient re-presented 10 months later with right lower extremity ischemia due to the vascular graft thrombosis. The thrombectomy specimen showed identical findings of his initial FA- DLBCL. Here we discuss the clinicopathologic findings of this entity and the importance of clinical follow up.

Sarcoidosis is a systemic idiopathic granulomatous disease that most commonly presents with lungs and hilar lymph node involvement. Clinical manifestation with acute ischemic stroke, with central neurological and cardiac involvement is extremely rare. Herein we report the case of a 60-year-old African American woman with history of chronic heart failure and pacemaker implantation, who presented with acute ischemic stroke, and died within 34 h of hospitalization. On autopsy, well-formed non-caseating granulomas were present in the myocardium, adventitia of the left main coronary artery, all lobes of bilateral lungs, pleura, liver, and spleen. The brain also showed granulomas, with predominantly leptomeningeal and focal parenchymal involvement of the central basal brain tissue (hypothalamic region), but without vascular wall involvement. Granulomas were also present within the thyroid as well as an incidental finding of a Hürthle-cell adenoma (HCA). We believe that left internal carotid artery and left middle cerebral artery obstruction, possibly thromoboembolic from the heart, was the cause of acute regional brain ischemia. This rare case illustrates the importance of the autopsy in the diagnosis of unexpected medical conditions; and also that sarcoidosis may play an etiologic role in acute ischemic stroke.

Intravascular large B-cell lymphoma (IVLBCL) is a very rare type of extranodal large B-cell lymphoma that selectively grows within vessels and can spread to any organs or tissues. A very few cases of synchronicity with malignant tumor have yet been described. We report a rare case of IVLBCL accompanying a pleural malignant solitary fibrous tumor (MSFT). A 76-year-old man presented with a chronic dry cough, fever, minor general state deterioration and pancytopenia. Imaging revealed a large pleural mass. Histologically, the mass consisted of a MSFT. However, CD20⁺ malignant round cells were scattered within lumina of intratumoral blood vessels, evidencing a synchronous IVLBCL occurrence. Molecular analysis of the lymphoid clone identified MYD88 and CD79B gene mutations. After pleural mass excision, global health’s patient improved with cytopenia correction. However, a general state deterioration appeared 4 months after surgery, associated with a large retroperitoneal mass presenting the same pathological and molecular patterns identical to the initial IVLBCL clone.

Large cell neuroendocrine carcinoma (LCNEC) of the ureter is an extremely rare entity. Herein, we present a case of primary LCNEC of the distal ureter in an 80-year-old male with a history of intermittent hematuria and a mass in the right distal ureter on computed tomography of the abdomen and pelvis. The patient subsequently underwent surgery followed by adjuvant chemotherapy. Histology and immunohistochemistry were in accordance with LCNEC.

Dyskeratosis congenita is a disease of impaired tissue maintenance downstream of telomere dysfunction. Characteristically, patients present with the clinical triad of nail dystrophy, oral leukoplakia, and skin pigmentation defects, but the disease involves degenerative changes in multiple organs. Mutations in telomere-binding proteins such as TINF2 (TRF1-interacting nuclear factor 2) or in telomerase, the enzyme that counteracts age related telomere shortening, are causative in dyskeratosis congenita. We present a patient who presented with severe hypoxemia at age 13. The patient had a history of myelodysplastic syndrome treated with bone marrow transplant at the age of 5. At age 18 she was hospitalized for an acute pneumonia progressing to respiratory failure, developed renal failure and ultimately, she and her family opted to withdraw support as she was not a candidate for a lung transplant. Sequencing of the patient’s TINF2 locus revealed a heterozygous mutation (c.844C > T, Arg282Cys) which has previously been reported in a subset of dyskeratosis congenita patients. Tissue sections from multiple organs showed degenerative changes including disorganized bone remodeling, diffuse alveolar damage and small vessel proliferation in the lung, and hyperkeratosis with hyperpigmentation of the skin. Autopsy samples revealed a bimodal distribution of telomere length, with telomeres from donor hematopoietic tissues being an age-appropriate length and those from patient tissues showing pathogenic shortening, with the shortest telomeres in lung, liver, and kidney. We report for the first time a survey of degenerative changes and telomere lengths in multiple organs in a patient with dyskeratosis congenita.

Acinar cell carcinoma (ACC) is a rare form of pancreatic cancer that has been reported to occur in pancreatic heterotopia of the gastrointestinal tract. Molecular profiling studies of primary pancreatic ACC describe genetic alterations distinct from pancreatic adenocarcinoma. However, molecular testing in ACC arising from pancreatic heterotopia has not been described. We report a case of ACC of the stomach associated with pancreatic heterotopia in a 76-year-old man. The clinical, microscopic, immunohistochemical, and molecular features are described, including analysis via a targeted 225-gene next-generation sequencing (NGS) panel. Two novel mutations involving PIK3CA and AXIN1 are described, with implications for therapeutic options. This study is the first to characterize the molecular profile of ACC arising in pancreatic heterotopia and broadens the molecular landscape of these rare tumors.

Background

Childhood rhabdomyosarcoma (RMS) of perineal or perianal origin (PRMS) is rare, accounting for only 2% of all RMSs. PRMS has been reported to show different characteristics depending on the patient’s age, and patients aged 10 years or older have a poor prognosis. Disseminated intravascular coagulation (DIC) is considered to be an uncommon complication of RMS. However, it could occur occasionally in patients with widespread RMS with bone marrow infiltration. Pulmonary lymphangitic sarcomatosis (PLS) has been reported to be rare, and to our knowledge, only 18 cases (including 4 patients with RMS) have been reported to date.

Case report

A 15-year-old female patient with suspected RMS was admitted to our hospital. The patient was diagnosed with PRMS following radiological evaluations and effusion cytology, and chemotherapy was initiated on the 6th day of admission. During the course, the patient suffered from severe dyspnea and DIC. Despite treatment, the bleeding tendency did not improve, and hepatic and renal failure progressed. The patient died of progressive respiratory failure on the 13th day of admission. An autopsy, performed 2 h after death, revealed a perianal tumor with pseudoalveolar growth pattern. In the lungs, a relatively large number of small metastatic foci, presumed to be lymphatic spread, were identified. It was diagnosed as PLS due to alveolar RMS.

Conclusion

Although PLS is reported to be an unexpected form of metastasis, it might cause severe dyspnea in patients with RMS, as 4 of 18 reported cases of PLS are associated with RMS.

Malignant peritoneal mesothelioma (MPM) is a rare, aggressive, and fatal neoplasm of the abdominal mesothelium with a very abysmal survival if left untreated. MPM with EWSR1-ATF1 fusion is an uncommon entity recently recognized by molecular studies. We report the first case of MPM with EWSR1-ATF1 fusion and aberrant CK20 expression. The patient was a 38-year-old man who presented to our institution with three months history of abdominal pain and distention, a significant weight loss (>30 lb), and failure to thrive. He was working in a construction company with 20 year-history of questionable asbestos exposure. Imaging studies demonstrated radiographic patterns suggestive of extensive peritoneal carcinomatosis. However, serum tumor markers were within the normal limit (CA 19–9, CEA, AFP, and βHCG). Subsequently, he underwent a biopsy of the peritoneal nodules. Biopsy showed a proliferation of epithelioid/round cells with ample cytoplasm and occasional vacuoles, displaying papillary architecture. Immunohistochemistry showed tumor cells were strongly and diffusely positive for WT1, AE1/3, CK7, CK20, desmin, and CD99, focally positive for calretinin, D2-40, and CK5/6, while negative for BerEp4, MOC-31, trypsin, TTF-1, P40, GATA3, CDX2, and PAX8. P16 and BAP1 were retained. Fluorescence in situ hybridization studies showed EWSR1 rearrangement, and the NGS fusion panel revealed EWSR1-ATF1 fusion. A diagnosis of MPM with EWSR1-ATF1 fusion was rendered. Unfortunately, the patient passed away within a month of diagnosis. Pathologists should be aware of this entity, especially when faced with tumors displaying mesothelioma morphology but showing atypical immunoprofile (co-expression of mesothelial markers with strong CK20).

Sarcina Ventriculi is a gram-positive organism, rarely encountered as a human pathogen. It has been described in stomach specimens, often in patients with delayed gastric emptying. The exact role of this organism in human disease is not clear. In this case report, we describe a case of Sarcina organism associated with gastric ulceration. This organism is likely underreported and often overlooked, as it may not be obvious on routine staining. Awareness of this organism and further studies are needed to understand its role in human disease.

In this report, we present a rare case of renal EWS in a 47-year- old man who presented with complaints of hematuria and flank pain. On CT imaging a 7 cm lobulated mass was discovered. Suspecting malignancy, a radical nephrectomy was performed. Microscopic evaluation showed features consistent with a small round blue cell sarcoma. Immunohistochemical stains and FISH with positive EWSR1 translocation confirmed the diagnosis.

An extensive review of literature in English language returned under 150 reports of renal EWS making it a rare entity with many differentials like rhabdomyosarcoma, neuroblastoma and desmoplastic small round cell tumor.