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Browsing by Author "Collins, Katrina"
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Item Anterior mediastinal neuroblastoma in an adult: an additional case of a rare tumor in an unusual location with review of the literature(BMC, 2023-11-29) Collins, Katrina; Ulbright, Thomas M.; Davis, Jessica L.; Pathology and Laboratory Medicine, School of MedicineNeuroblastoma is rare in the adult population, especially in thoracic or mediastinal locations, with only 25 previously reported cases. We report an additional example of primary thymic neuroblastoma in a previously asymptomatic 71-year-old man with an anterior mediastinal mass who underwent robotic excision with pericardium and adjacent lung. The tumor was a 5.2 cm partially encapsulated, white-tan and rubbery mass with grossly identifiable areas of necrosis (25%) and hemorrhage. Histologically, the specimen showed a rim of adipose tissue and residual thymic tissue with areas of cystic thymic epithelium and prominent lymphoid tissue containing Hassall’s corpuscles. The tumor was composed of uniform, round cells with scant cytoplasm and small nuclei with inconspicuous nucleoli set within a background of conspicuous neuropil. Mitotic figures were easily found. By immunohistochemistry, the tumor cells expressed synaptophysin, chromogranin, NKX2.2 (diffuse, nuclear), GFAP (patchy), SMI31 (neurofilament) (focal, cytoplasmic), and TdT (diffuse, nuclear), while lacking expression of CD99, TTF-1, CK 20, MCPyV, PHOX2B, Olig2, OCT3/4, CD45, CD3 and PAX5. S100 protein was negative in the neuroblastic cells, with scattered positive cells in a vague sustentacular-like pattern. Fluorescence in situ hybridization for isochromosome 12p and EWSR1 gene rearrangement were negative. As thymic neuroblastoma is extremely rare in adults, a neuroblastic tumor of germ cell origin (either primary or metastatic) or spread from a sinonasal tract tumor should be excluded because of differing treatments and prognoses. The properties of these rare neoplasms appear similar to olfactory neuroblastoma rather than pediatric-type neuroblastoma.Item Endocrine cell micronests in an ovarian mucinous borderline tumor: a potential diagnostic pitfall for microinvasion(BMC, 2022-04-14) Collins, Katrina; Segura, Sheila; Hwang, Michael; Pathology and Laboratory Medicine, School of MedicineThe occurrence of endocrine cell micronests in ovarian tumors is rarely reported. To our knowledge, there are only three prior cases reported to date: one occurring in an ovarian mucinous cystadenoma, one in an ovarian mucinous cystadenofibroma, and another in an ovarian mucinous carcinoma with a predominant borderline component. This is a 27-year-old woman that presented with a one-month history of abdominal pain and fullness. Imaging studies revealed a large multiloculated cystic and solid mass measuring 23 cm occupying the majority of the pelvis and abdomen concerning for a primary ovarian malignancy. The patient underwent a right salpingo-oophorectomy with appendectomy. Histologic sections from the ovary showed a multiloculated, cystic and focally solid mass lined by gastrointestinal-type mucinous epithelium with variable degrees of proliferation accounting for greater than 10% of the tumor. In addition to the mucinous epithelial component, there were several foci of bland, monotonous epithelioid cells arranged in solid nests with focal tubular/acinar formation within the fibrous septa and mucinous epithelium. Immunohistochemical studies showed that these cells were positive for cytokeratin, EMA, and synaptophysin, while negative for inhibin. The Ki-67 proliferation index was low (<1%). The presence of endocrine cell nests associated with an ovarian mucinous neoplasm is a rare phenomenon. Whether this represents preservation of endocrine cells in the context of epithelial degeneration or an independent neoplastic component is unclear. Progression related to this endocrine cell proliferation is unlikely and the recognition of this phenomenon holds more diagnostic value than prognostic significance, as it could be confused with microinvasion or sex cord stromal elements.Item Gastrointestinal histoplasmosis complicating pediatric Crohn disease: A case report and review of literature(Baishideng Publishing Group, 2022) Miller, C. Quinn; Saeed, Omer A.M.; Collins, Katrina; Pathology and Laboratory Medicine, School of MedicineBackground: Infection with Histoplasma capsulatum (H. capsulatum) can lead to disseminated disease involving the gastrointestinal tract presenting as diffuse abdominal pain and diarrhea which may mimic inflammatory bowel disease (IBD). Case summary: We report a case of 12-year-old boy with presumptive diagnosis of Crohn disease (CD) that presented with several months of abdominal pain, weight loss and bloody diarrhea. Colonoscopy showed patchy moderate inflammation characterized by erythema and numerous pseudopolyps involving the terminal ileum, cecum, and ascending colon. Histologic sections from the colon biopsy revealed diffuse cellular infiltrate within the lamina propria with scattered histiocytic aggregates, and occasional non-necrotizing granulomas. Grocott-Gomori's Methenamine Silver staining confirmed the presence of numerous yeast forms suggestive of Histoplasma spp., further confirmed with positive urine Histoplasma antigen (6.58 ng/mL, range 0.2-20 ng/mL) and serum immunoglobulin G antibodies to Histoplasma (35.9 EU, range 10.0-80.0 EU). Intravenous amphotericin was administered then transitioned to oral itraconazole. Follow-up computed tomography imaging showed a left lower lung nodule and mesenteric lymphadenopathy consistent with disseminated histoplasmosis infection. Conclusion: Gastrointestinal involvement with H. capsulatum with no accompanying respiratory symptoms is exceedingly rare and recognition is often delayed due to the overlapping clinical manifestations of IBD. This case illustrates the importance of excluding infectious etiologies in patients with "biopsy-proven" CD prior to initiating immunosuppressive therapies. Communication between clinicians and pathologists is crucial as blood cultures and antigen testing are key studies that should be performed in all suspected cases of histoplasmosis to avoid misdiagnosis and inappropriate treatment.Item Imaging characteristics of pathologically proven adrenal adenomas with myelolipomatous degeneration: correlation with clinical and pathologic features(Oxford University Press, 2022) Guccione, Jeffrey; Soliman, Moataz; Zhang, Miao; Habra, Mouhammed Amir; Collins, Katrina; Zhao, Jianping; Elsayes, Khaled M.; Pathology and Laboratory Medicine, School of MedicineObjectives: Adrenal adenoma with myelolipomatous degeneration (AMD) is a rarely reported and often overlooked entity. The aim of this study is to improve understanding of these lesions by characterizing the imaging findings with pathologic and clinical correlation. Methods: In the largest series to date, we report 11 nodules in 11 patients confirmed with a pathologic diagnosis of AMD. The available cross-sectional imaging and histopathologic features were reviewed by two radiologists and two pathologists, respectively. Clinical and laboratory data for each patient were obtained from the electronic medical records, when available. Results: All 11 patients had a CT prior to resection or biopsy of the adrenal nodule, with five having received an adrenal mass protocol study. An MRI was available in three patients. The median size of the nodules on imaging was 4.5 cm (range 2.8-8.7) and all but one had macroscopic fat. The largest focus of macroscopic fat had a median size of 0.7 cm (range 0.2-1.6) and on average was 14.4% the size of the tumor, using greatest dimensions. Four (36.4%) patients had a diagnosis of Cushing syndrome prior to nodule resection. Conclusions: Not all adrenal nodules with macroscopic fat on imaging are pure myelolipomas. An AMD should be considered, especially if the foci of fat are small and other features of an adenoma are present. Some may also be associated with Cushing syndrome. Advances in knowledge: Myelolipomatous degeneration within an adrenal adenoma has only rarely been previously reported with very few reports emphasizing the imaging features. There may be an association with cortisol hypersecretion and improved recognition of this entity could lead to changes in clinical management.Item Incidental adrenal hemangioma clinically suspicious for malignancy: diagnostic considerations and review of the literature(e-Century Publishing, 2022-11-15) Toklu, Ani; Mesa, Hector; Collins, Katrina; Pathology and Laboratory Medicine, School of MedicineAdrenal hemangiomas are rare lesions often found incidentally during unrelated diagnostic work-up. We report a case of a 67-year-old man with history of hypertension, hyperlipidemia, anemia, arthralgia, joint swelling and unexplained weight loss, which prompted imaging studies. Computed tomography scan revealed a 5.4 cm adrenal mass. The patient had no clinical manifestations of adrenal medullary or cortical hyperfunction. Urine and plasma metanephrines and aldosterone/renin ratio were within normal range. The patient was taking prednisone for hand and ankle swelling, precluding assessment for Cushing syndrome. Given the size of the lesion, the possibility of malignancy was considered, and the patient elected for surgical management. The left adrenalectomy specimen weighed 54 g and revealed a 4.9 cm tan-brown mass with congested cut surface and a thin rim of residual adrenal gland parenchyma. Histologic examination showed thick and thin-walled vessels intermingled with adrenocortical elements at the periphery characteristic of a hemangioma. Surgical resection is the mainstay treatment for large, isolated adrenal masses to exclude malignancy and prevent retroperitoneal hemorrhage. Herein, we report a case of adrenal hemangioma, review a variety of other diagnostic considerations occurring in the adrenal gland, and highlight useful distinguishing features to assist in accurate diagnosis.Item Jejunal Intussusception Secondary to a Large Inflammatory Fibroid Polyp: A Case Report and Discussion of Differential Diagnosis(Hindawi, 2023-04-13) Abu-Salah, Asma Khalid; Brocken, Eric; Mesa, Hector; Collins, Katrina; Pathology and Laboratory Medicine, School of MedicineInflammatory fibroid polyp (IFP), initially considered a reactive process, is now recognized as a benign mesenchymal neoplasm of the gastrointestinal tract. We report a case of a 68-year-old woman with medically refractory Crohn disease that presented with intussusception requiring surgical intervention. The resection revealed a jejunal mass consisting of a submucosal proliferation of bland spindle cells in a fibrous stroma infiltrated by numerous eosinophils. By immunohistochemistry, the lesion was positive for vimentin and negative for desmin, smooth muscle actin (SMA), S-100, CD117, DOG1, ALK (D5F3), Melan-A, HMB-45, CD34, and STAT6. Ki-67 proliferative index was low (<1%). The mass was classified as IFP by its characteristic morphology and associated eosinophilia. IFP should be considered in the differential diagnosis of adults with intussusception or bowel obstruction. Definitive treatment typically requires surgical resection of the involved bowel segment.Item Localized amyloidosis of the prostatic urethra mimicking urothelial carcinoma(e-Century Publishing, 2021-10-15) Collins, Katrina; Al-Obaidy, Khaleel; Warmke, Laura; Cary, Clint; Chen, Shaoxiong; Pathology and Laboratory Medicine, School of MedicineAmyloidosis is a disease characterized by extracellular deposition of amyloid protein fibrils in tissues. It rarely involves the urethra with just over 50 cases reported in the English language literature. We report a case of urethral amyloidosis that mimicked urothelial carcinoma clinically. The patient is a 69-year-old male who presented to the emergency department with shortness of breath. An abdominal CT scan demonstrated a right hydronephrotic kidney and a large, predominantly hyperdense lesion, presumed to be hematoma largely occupying the urinary bladder. Pan-cystoscopy revealed a 6 cm bladder mass involving the prostatic urethra displacing the right ureteral orifice, which was biopsied. Histologic examination showed numerous osteoclast-type giant cells, with areas of extensive calcification and multifocal ossification interspaced by large deposits of amorphous eosinophilic material. Amyloid deposition was confirmed by Congo red and sulfated Alcian blue stains. Light chromatography tandem mass spectrometry was performed and detected multiple types of proteins including serum amyloid P component, apolipoprotein A4, and apolipoprotein E; however, a dominant amyloid type was not identified. The patient had no history of infection or localized inflammation. Further investigations for systemic amyloidosis were all negative. Amyloidosis of the urethra is extremely rare and may either be localized, idiopathic or a manifestation of systemic amyloidosis. Physicians among various specialties, including urologists, pathologists and radiologists should be aware of this rare entity, as this lesion may be easily mistaken for malignancy further emphasizing the importance of tissue diagnosis before definitive surgery. Long-term follow-up in the absence of symptoms may not be required.Item Merlin immunohistochemistry is useful in diagnosis of tumours within the spectrum of biphasic hyalinizing psammomatous renal cell carcinoma(Wiley, 2022-11) Collins, Katrina; Hwang, Michael; Antic, Tatjana; Paintal, Ajit; Argani, Pedram; Matoso, Andres; Gopinath, Arun; Baskovich, Brett; Mehra, Rohit; Williamson, Sean R.; Idrees, Muhammad T.; Barletta, Justine A.; Anderson, William J.; Hirsch, Michelle S.; Hornick , Jason L.; Acosta, Andres M.; Pathology and Laboratory Medicine, School of MedicineAims: Biphasic hyalinizing psammomatous (BHP) renal cell carcinoma (RCC) is a newly described emerging entity within the spectrum of papillary RCC in the WHO 2022 classification. Molecular analyses have discovered that BHP RCC consistently harbour somatic mutations in the neurofibromin 2 (NF2) gene. The NF2 gene product, merlin, is known to primarily function as a tumour suppressor. Merlin protein loss correlates closely with the presence of NF2 mutations in benign and malignant tumours arising in different sites. In the present study we explored the role of merlin immunohistochemistry (IHC) in tumours within the spectrum of BHP RCC to determine the diagnostic utility of this marker. Materials and methods: We performed merlin IHC in 13 BHP RCC, 18 papillary RCC, 10 TFE3-translocation RCC, 15 TFEB-altered RCC (including 13 TFEB-rearranged and 2 TFEB-amplified), and 10 mucinous tubular and spindle cell carcinomas of unknown mutational status. Results: Unequivocal loss of merlin expression in >90% of the tumour cells was observed in 12/13 BHP-RCC (92%), with the remaining tumour demonstrating weak focal cytoplasmic expression in ~10% of the tumour. In contrast, merlin was diffusely or multifocally expressed in all papillary RCC, TFE3-translocation RCC, and TFEB-altered RCC, as well as in 70% of mucinous tubular and spindle carcinomas. Conclusions: In this study, merlin IHC was ~92% sensitive and ~94% specific for BHP RCC. These data suggest that merlin IHC is a reliable surrogate marker for the presence of underlying NF2 gene inactivation, being diagnostically useful to identify BHP RCC.Item Renal Replacement Lipomatosis Presenting in the Setting of Ureteral Stricture with Absence of Renal Calculus Disease(Hindawi, 2021-10-23) Collins, Katrina; Brocken, Eric; Warmke, Laura M.; Tirkes, Temel; Hwang, Michael; Pathology and Laboratory Medicine, School of MedicineRenal replacement lipomatosis of the kidney is a rare, benign entity in which extensive fibrofatty proliferation of the renal sinus is associated with marked atrophy of the renal parenchyma. It is often associated with calculi or long-standing inflammation. This entity may be confused with a fatty neoplasm of the kidney. A 51-year-old woman with a past medical history of pancreas transplant for type 1 diabetes subsequently developed ureteral stricture. This was initially managed by a nephrostomy tube and nephroureterostomy stenting with periodic exchanges to help restore urine flow; however, the renal function of the kidney progressively declined with recurrent and complicated urinary tract infections. She presented for kidney transplant with right native nephrectomy. Gross examination of the right kidney revealed a 12.8 cm renal sinus lipomatous mass replacing much of the kidney. Microscopically, the mass consisted of mature adipose tissue with fibrous septae and occasional thick-walled vessels with prominent smooth muscle bundles. A rare atypical stromal cell was present, otherwise no significant cytologic atypia or lipoblasts were identified. After excluding fat-predominant angiomyolipoma and well-differentiated liposarcoma, a diagnosis of renal replacement lipomatosis was made. Renal replacement lipomatosis is a benign condition typically associated with a nonfunctioning or poorly functioning kidney often linked to renal calculus disease or chronic renal infection. The presentation in our case was atypical given an absence of associated renal calculus disease. This case is intended to increase awareness of this less commonly encountered entity as it may be confused with a fatty neoplasm of the kidney, some with malignant potential.