International Journal of Surgical Pathology最新文献

Ewing sarcoma (ES) is a rare aggressive neoplasm that is the second most common primary bone tumor of childhood and adolescence, with less frequent extraskeletal presentations. ES with EWSR1::FEV translocation is extremely rare and is characterized by extraskeletal location, varying morphology and immunophenotype, and an aggressive clinical course. We present a prostatic ES confirmed by EWSR1::FEV fusion, detailing its clinical presentation, histopathologic and immunophenotypic features, molecular profile, and management. A man in his mid-50s presented with urinary frequency and difficulty voiding. Imaging revealed a 4.4 cm prostatic mass with bladder invasion and right iliac lymphadenopathy. Serum PSA was within normal limits. Biopsy demonstrated a poorly differentiated epithelioid neoplasm with neuroendocrine features. Immunohistochemistry showed strong expression of keratins AE1/3 and CAM5.2, chromogranin, synaptophysin, NKX2.2, and CD99 (weak), while PSA was negative. NKX3.1 was focally positive in rare tumor cells and Ki67 was approximately 35%. Perineural invasion and intraductal spread were noted. The tumor was initially interpreted as poorly differentiated carcinoma with neuroendocrine features. The patient underwent radical prostatectomy, revealing a 5.5 cm tumor with perineural and lymphovascular invasion, and nodal metastasis. Next-generation sequencing confirmed an EWSR1::FEV fusion, establishing the diagnosis of ES. Immunostain for androgen receptor was strongly and diffusely positive in the primary tumor and in the nodal metastasis, which together with focal staining for NKX3.1 were suggestive of primary prostatic origin and invited consideration of androgen deprivation therapy. This report highlights a rare prostatic Ewing-family sarcoma harboring an EWSR1::FEV fusion and immunophenotypic features that mimic a neuroendocrine carcinoma.

Introduction. Primary mucinous adenocarcinoma of the kidney is an exceedingly uncommon malignancy. It comprises a minority of renal malignancies and presents notable diagnostic complexities owing to its atypical manifestation and resemblance in clinical features to common urinary tract conditions. Surgical intervention is the preferred treatment modality, although the prognosis remains bleak, with high rates of recurrence. A definitive diagnosis is established through postoperative histopathological examination. Patient Presentation. Here, we present a 75-year-old man who reported complaints of a mass in the left flank with clinical findings suggestive of a nonfunctioning left kidney. Initial diagnostic imaging suggested a pelvi-uretric junction calculus-associated gross hydronephrosis. However, a subsequent nephrectomy was performed, and the specimen received was subjected to histopathological analysis, which revealed the diagnosis to be a primary mucinous adenocarcinoma involving the kidney. Conclusion. This clinical observation highlights the diagnostic challenge and importance of considering rare entities in patients with vague clinical presentations. Histopathological evaluation is crucial in accurately diagnosing and appropriately managing such rare malignancies. This report contributes to the limited literature on this entity, emphasising the need for awareness among clinicians.

Background. Hepatoblastoma has an aggressive course in a subset of children. Studying various markers related to the signaling pathways can aid in understanding its pathogenesis at the molecular level and may pave the way for targeted therapy. We conducted this study to evaluate the immunohistochemical expression of markers related to WNT and NOTCH signaling pathways in hepatoblastoma and to compare them among its histological subtypes. Methods. The specimens of hepatoblastoma diagnosed over a period of 8 years were retrieved. Clinicoradiological data was obtained. Slides were reviewed and detailed histopathological parameters, diagnosis, and subtypes were reevaluated. Immunohistochemistry for β-catenin, CCND1, glutamine synthetase, MYC, AXIN2, NOTCH2, DLK1, and HES1 was performed. Statistical analysis was done. Results. A total of 51 samples of hepatoblastoma were included in the study. Mixed epithelial-mesenchymal hepatoblastoma was the most common histologic subtype. PRETEXT IV, high-risk group, high mitotic index, and less differentiated histologic subtype were associated with worse outcomes. β-catenin, AXIN2, CCND1, expression was more in less differentiated subtypes. MYC, HES1, and glutamine synthetase expression was more common in the fetal component. NOTCH2 and DLK1 expression was seen across all types. A statistically significant association was observed among AXIN2 expression with β-catenin, CCND1, and MYC nuclear expression. Mean overall survival was 66.6 months and mean event-free survival was 54.7 months. Conclusions. The NOTCH pathway converges with the WNT pathway. Differential expression of the immunohistochemical markers of these pathways helps in the semiquantitation of various epithelial components, guides adjuvant treatment, and patient prognostication.

Crystal-storing histiocytosis (CSH) is a rare entity pathologically defined by the presence of eosinophilic histiocytes filled with refractile crystalline structures, which are most often IgG kappa monoclonal immunoglobulins. Though CSH is a benign lesion, it is often associated with a concurrent or developing lymphoproliferative disorder. Literature review reveals kidneys, lungs, lymph nodes, bone marrow, skin, and eyes as the most common presentation sites, with the stomach as the most common gastrointestinal (GI) site. Reports of CSH in the GI setting have noted simultaneous infections with Helicobacter pylori and a range of associated lymphomas. We report a lesion from the stomach of a 45-year-old woman endoscopically described as containing patchy atrophic and nodular mucosa, biopsied for gastric mapping due to a reported history of atrophic gastritis without confirmatory serologic antibodies. Immunohistochemical stains highlighted CD68 positive, keratin negative, cells with cytoplasmic kappa positivity. The smooth muscle actin marker highlighted rare smooth muscle fibers. CSH was diagnosed in a background of chronic inactive gastritis without evidence of Helicobacter pylori or associated extranodal marginal zone lymphoma. Though rare in the GI tract, it is important to recognize this entity and its potential to occur concurrently with lymphoproliferative disorders, inflammatory conditions, and possible autoimmune diseases.

Context. Undifferentiated carcinomas with osteoclast-like giant cells of the pancreaticobiliary tract (UCOGCs) are rare but distinctive tumors with limited literature. Objective. To study the clinicopathologic characteristics of UCOGCs including morphology, immunohistochemistry (IHC), management, and survival outcomes. Design. Assessment of 12 patients of UCOGC found over 10 years from a tertiary care oncology center database. Results. The mean age at diagnosis was 54.8 years (35-69 years) with a striking men:women ratio of 1:1.5. Eleven of 12 tumors (91%) involved the pancreas, while 1 was in the gallbladder fossa (8%). The mean tumor size was 8.8 cm (range: 4.2-18 cm). Fifty-eight percent showed metastasis at presentation, most commonly to the liver (57%). On microscopy, epithelioid-predominant histology was seen in 91%; 5 of these had an additional spindle/sarcomatoid morphology, while 1 tumor showed pure sarcomatoid histology. By immunohistochemistry, keratins were expressed in the neoplastic mononuclear cells (6 of 9, 67%). In terms of management, 2 of 11 (18%) patients underwent surgery alone; 1 of 11 (9%) received neoadjuvant chemoradiation, followed by surgery and adjuvant chemotherapy; 2 of 11 (18%) underwent surgery, followed by adjuvant chemotherapy; 4 of 11 (36%) received chemotherapy alone; and 2 of 11 (18%) received palliative care. On follow-up, 9 of 12 patients succumbed within a year of diagnosis (75%). The 6-month overall survival (OS) was 44%, and the mean survival period was 5 months (range: 8 days-1 year). Conclusions. UCOGCs are rare, aggressive variants of carcinoma and ought to be classified separately. Owing to their unique etiopathogenetic mechanisms, further exploration and large studies are required to devise newer, more effective therapeutic regimes.

Despite advancement in surgical techniques, better peri-operative care, and improved potency of immunosuppressive regimens, infections (both de novo and reactivated latent infections) remain a significant cause of morbidity and mortality in liver transplant recipients, with up to 80% of transplant recipients developing at least one episode of infection during the first year following transplantation, including bacterial, viral, fungal, and other infections. Post-transplant herpes simplex virus (HSV) hepatitis is rare, occurs primarily as a reactivation of latent infection, and less commonly as a de novo infection (including donor-derived infection). If not promptly recognized and treated, HSV hepatitis is associated with a high mortality (up to 70% patients). High index of suspicion is needed for accurate diagnosis. We present herein, an account of herpes simplex hepatitis in an adult male patient, which developed shortly after the index patient underwent liver transplantation for decompensated chronic alcoholic liver disease.

Introduction: Selected patients with pelvic high-grade serous carcinoma (HGSC) receive neoadjuvant chemotherapy prior to resection. Guidelines allow cytopathology fluids to be used to confirm this diagnosis before neoadjuvant chemotherapy, which can be less invasive and costly. This study examines how often cytology fluids are used for this purpose at our institution. Methods: Specimens of HGSC on cytology were searched for over 3 years. Results: Of 54 specimens, 44 of 54 (81%) were effusions, 10 of 54 (19%) were washings. The majority (32/54; 59%) of specimens were abdominal, the remaining were pleural (22/54; 41%). Most 32 of 54 (59%) were post therapy/diagnosis. A minority of specimens (14/54; 26%) had a concurrent surgical pathology specimen. In all, 34 of 52 (65%) patients were Stage 3, 13 of 52 (25%) Stage 4, and 5 of 52 (10%) Stage 2. Only 6 of 54 (11%) specimens were used solely for initial diagnosis with no concurrent surgical pathology specimen. All 6 were effusions; 5 of 6 (83%) were abdominal and 1 of 6 (17%) was pleural. Immunohistochemistry was performed on a majority (30/54; 56%) of specimens, with PAX8 being the most common, (30/54; 56%) and was positive in all specimens. Mutational p53 staining was noted in 20 of 21 (95%) specimens. Conclusion: Cytology fluid alone is uncommonly used for diagnosis of HGSC prior to initiation of neoadjuvant chemotherapy at our institution, possibly due to morphologic overlap on fluid specimens and relatively new implementation of neoadjuvant chemotherapy guidelines. High-grade serous carcinoma is most often encountered in effusions post-therapy. Morphology is similar in all specimens, regardless of preparation method or therapy status.

Background: Cystic teratoma with neuroectodermal cyst and choroid plexus epithelium in the cheek has never been documented in the literature to date. We report the first example of a cystic teratoma with abundant neuroectodermal derivatives, like glial cells and papillary choroid plexus-like epithelium, within the masseteric space and with no intracranial involvement. Patient presentation: A two-year-old male child presented with a complaint of a slowly growing swelling on the left side of the face since birth with no history of fever, fatigue or weight loss or other similar swellings elsewhere. No relevant family history was noted. Subsequent investigations revealed a single large nontender well-marginated swelling of size 4.6 ×3.6 ×3.7 cm within the left masseteric space. Additionally, unilateral renal agenesis on the right side was identified on ultrasound scan. Surgical removal and subsequent histopathological examination revealed cystic cavities lined by flat cells, which at places showed choroid plexus-like papillary proliferations. The connective tissue capsule was predominantly of glial fibrillary material, lacking any presence of dermoid or epidermoid structures, bone, cartilage or any hard tissues. The immunohistochemical examination with glial fibrillary acidic protein, keratin, vimentin and S100 confirmed the neuroectodermal components. A final diagnosis of cystic teratoma with neuroectodermal cyst was made, arguing against dermoid or epidermoid teratomas. Conclusion: Cystic teratoma with neuroectodermal cyst features are common in the gonads, ovaries, or the midline, but is rare in the cheek region and never reported in the literature to date. The location is famous for dermoid/epidermoid cyst subtypes of cystic teratomas; however, a neuroectodermal cyst is an unusual presentation.

Primary adrenal leiomyosarcoma and primary adrenal epithelioid angiosarcoma are exceptionally rare mesenchymal tumors of the adrenal gland. Both typically present as unilateral, nonfunctional adrenal masses and may closely resemble other adrenal or metastatic tumors, thus making diagnosis challenging. Immunohistochemical analysis is essential for accurate classification and clinical decision-making. We report two primary adrenal leiomyosarcomas and one primary adrenal epithelioid angiosarcoma, all occurring in elderly female patients without initial evidence of extra-adrenal disease. The leiomyosarcomas demonstrated spindle cell morphology with strong expression of smooth muscle markers and variable proliferative activity, including one patient that progressed to hepatic metastasis. The epithelioid adrenal angiosarcoma exhibited epithelioid features, extensive necrosis, diffuse CD31 and ERG positivity, and focal keratin expression. Complete surgical resection was achieved in all patients. These patients highlight the diagnostic complexity and prognostic variability of adrenal sarcomas. Documenting such rare tumors remains critical to improving diagnostic precision and guiding optimal management strategies.

This report details findings from a morphologic, immunohistochemical, and molecular analysis of an example of endometrial mesonephric-like adenocarcinoma (MLA) with prominent clear cell carcinoma (CCC)-like features, with an assessment of whether such tumors represent mixed MLA/CCC or a morphologic subtype of MLA. Approximately 40% of an otherwise prototypical MLA was comprised of spatially discrete zones with prominent CCC-like morphology. The MLA-like nuclear features of both components were similar, as were their immunoreactivity patterns for estrogen receptor, progesterone receptor, SOX17, and calretinin (all negative), GATA3, and TTF1 (patchy positive). Diffuse immunoreactivity for CD10 and Napsin-A was limited to the CCC-like areas. Next generation sequencing of each macro-dissected component showed both to display the same KRAS variant (G12V), with similar variant allelic frequencies (42.5% [MLA]; 48.2% [CCC-like]). Although KRAS G12V lacks specificity for MLA, the totality of findings supports the interpretation that the CCC-like areas represent morphologic mimicry of CCC by MLA. Additional supportive factors include the similarity in nuclear features between the 2 components, absence of other architectural patterns of CCC in the CCC-like areas, co-expression of GATA3 and TTF1, as well as negativity for SOX17 in both components. This tumor highlights the potential for MLA to display striking CCC-like morphology, possibly leading to misclassification in a sampling specimen, and adds to the emerging literature on the potential for MLA to express Napsin-A.