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1.
Hum Pathol ; 149: 10-20, 2024 May 21.
Article in English | MEDLINE | ID: mdl-38782103

ABSTRACT

Myoepithelial tumors of the soft tissue and bone occurring in patients 21 years of age and younger are rare, and their clinicopathologic features remain incompletely understood. We studied a well-characterized series of 40 such tumors. Cases were retrieved from our archives for the period 2009-2022 and re-reviewed. Available immunohistochemical and molecular genetic data was collected. Clinical information including available follow-up was obtained. The tumors occurred in 18 males and 22 females, ranging from 3 months to 21 years of age (median 11.5 years), and involved a wide variety of soft tissue (n = 36) and bone (n = 4) locations. Histologically benign myoepithelial tumors tended to occur in adolescents (median age 14.5 years; range 5-21 years), whereas myoepithelial carcinomas occurred in younger patients (median age 8.5 years; range 3 months-20 years). Microscopically, the tumors showed a complex admixture of epithelioid, plasmacytoid and spindled cells in a variably hyalinized, myxoid, chondroid or chondromyxoid background. Small subsets of histologically malignant tumors had rhabdoid or "round cell" features. Immunohistochemistry showed 35/40 (88%) cases to be positive with at least one keratin antibody. The 5 keratin-negative tumors were uniformly positive for S100 protein and/or SOX10 and expressed EMA (4 cases) and/or p63 (3 cases). EMA, SMA and GFAP were positive in 21/25 (84%), 13/21 (62%), and 8/21 (38%) tumors, respectively. SMARCB1 and SMARCA4 expression was retained in 29/31 (94%) and 22/22 (100%) of cases, respectively. FISH for EWSR1 gene rearrangement was positive in 6/18 (33%) tested cases. Two EWSR1-negative tumors were also FUS-negative. NGS identified EWSR1::POU5F1, FUS::KLF17, and BRD4::CITED1 gene fusions in 3 tested cases. Clinical follow-up (22 patients; median 23 months; range 1-119 months) showed 3 patients with local recurrences and 5 with distant metastases (lymph nodes, lung, and brain). Three patients died of disease, 3 were alive with recurrent or unresectable disease, and 16 were disease-free. Adverse clinical outcomes were seen only in patients with malignant tumors. We conclude that myoepithelial neoplasms of soft tissue and bone are over-repesented in patients ≤21 years of age, more often histologically malignant, and potentially lethal. Histologic evaluation appears to reliably predict the behavior of these rare tumors.

3.
Int J Surg Pathol ; : 10668969241228295, 2024 Feb 04.
Article in English | MEDLINE | ID: mdl-38311893

ABSTRACT

Renal cell carcinoma with fibromyomatous stroma, recognized as a provisional entity in the current 2022 World Health Organization classification of renal neoplasms, is rare. Recent evidence suggests recurrent alterations in the mTOR pathway, supporting its recognition as a distinct entity. Herein, we report 2 renal cell carcinomas with fibromyomatous stroma with MTOR mutations occurring in 62- and 72-year-old women and review the literature to support its recognition as a distinct entity, focusing on the characteristic morphology, immunohistochemical staining patterns as well as genetic alterations.

4.
Int J Surg Pathol ; 32(1): 115-118, 2024 Feb.
Article in English | MEDLINE | ID: mdl-37128815

ABSTRACT

Adamantinoma-like Ewing sarcoma (ALES) is a newly described rare entity, which shows EWSR1::FLI1 rearrangement characteristic of Ewing sarcoma. This can be diagnostically challenging as it manifests histologically with epithelial differentiation and has diffuse keratin expression as well as p40 and p60 positivity. We hereby report a case of ALES in a 33-year-old woman with a past medical history of breast carcinoma who presented with a right-sided parotid mass. CT scan of the neck showed a heterogenous mass within the superficial lobe, measuring 17 mm in diameter for which the patient underwent superficial parotidectomy. Histopathology of the mass revealed a malignant neoplasm formed of solid nests, cords and sheets of cells with minimal cytoplasm and monomorphic nuclei with granular chromatin and indistinct nucleoli. Brisk mitotic activity and tumor necrosis were also present. The tumor showed strong and diffuse reactivity for pankeratin (clone AE1/AE3) and keratin 20, both in a dot-like pattern, raising the suspicion of metastatic Merkel cell carcinoma; however, molecular studies showed EWSR1::FLI1 rearrangement, supporting the diagnosis of ALES. In summary, it is prudent to have knowledge about this entity to avoid its misdiagnosis as other malignancies of the head and neck region which exhibit a different clinical course, prognosis and hence treatment modalities.


Subject(s)
Adamantinoma , Carcinoma, Merkel Cell , Sarcoma, Ewing , Skin Neoplasms , Female , Humans , Adult , Sarcoma, Ewing/diagnosis , Sarcoma, Ewing/genetics , Sarcoma, Ewing/pathology , Adamantinoma/diagnosis , Adamantinoma/genetics , Adamantinoma/surgery , Parotid Gland/pathology , Carcinoma, Merkel Cell/pathology , Skin Neoplasms/pathology
5.
Int J Surg Pathol ; : 10668969231213983, 2023 Nov 28.
Article in English | MEDLINE | ID: mdl-38018140

ABSTRACT

Testicular sex cord-stromal tumors are clonal neoplasms, with the majority being of Leydig cell followed by Sertoli cell origins. In Leydig cell tumors, adipocytic differentiation has been previously reported as a possible distinguishing feature, which has not been reported in other sex cord-stromal tumors. Herein, we report a case of a 48-year-old man who presented with an incidentally discovered 1.1 cm testicular mass, for which he underwent partial orchiectomy. Microscopically, the tumor showed features consistent with sex cord-stromal tumor with strong and diffuse nuclear and cytoplasmic reaction for B-catenin immunohistochemistry, supporting the diagnosis of Sertoli cell tumor. A novel adipocytic differentiation, reported previously in Leydig cell tumors, was present in this tumor.

6.
Virchows Arch ; 483(1): 41-46, 2023 Jul.
Article in English | MEDLINE | ID: mdl-37294448

ABSTRACT

Osteoid osteomas typically arise in the long bones of extremities. Patients often report pain relieved by NSAIDS, and radiographic findings are often sufficient for diagnosis. However, when involving the hands/feet, these lesions may go unrecognized or misdiagnosed radiographically due to their small size and prominent reactive changes. The clinicopathologic features of this entity involving the hands and feet are not well-described. Our institutional and consultation archives were searched for all cases of pathologically confirmed osteoid osteomas arising in the hands and feet. Clinical data was obtained and recorded. Seventy-one cases (45 males and 26 females, 7 to 64 years; median 23 years) arose in the hands and feet, representing 12% of institutional and 23% of consultation cases. The clinical impression often included neoplastic and inflammatory etiologies. Radiology studies demonstrated a small lytic lesion in all cases (33/33), the majority of which had a tiny focus of central calcification (26/33). Nearly, all cases demonstrated cortical thickening and/or sclerosis and perilesional edema which almost always had an extent two times greater than the size of the nidus. Histologic examination showed circumscribed osteoblastic lesions with formation of variably mineralized woven bone with single layer of osteoblastic rimming. The most common growth pattern of bone was trabecular (n = 34, 48%) followed by combined trabecular and sheet-like (n = 26, 37%) with only 11 (15%) cases presenting with pure sheet-like growth pattern. The majority (n = 57, 80%) showed intra-trabecular vascular stroma. No case showed significant cytology atypia. Follow up was available for 48 cases (1-432 months), and 4 cases recurred. Osteoid osteomas involving the hands and feet follow a similar age and sex distribution as their non-acral counterparts. These lesions often present with a broad differential diagnosis and may initially be confused with chronic osteomyelitis or a reactive process. While the majority of cases have classic morphologic features on histologic exam, a small subset consists solely of sheet-like sclerotic bone. Awareness that this entity may present in the hands and feet will help pathologists, radiologists, and clinicians accurately diagnose these tumors.


Subject(s)
Bone Neoplasms , Osteoma, Osteoid , Male , Female , Humans , Osteoma, Osteoid/diagnosis , Osteoma, Osteoid/pathology , Bone Neoplasms/pathology , Neoplasm Recurrence, Local/diagnosis , Bone and Bones , Diagnosis, Differential
8.
Head Neck Pathol ; 17(1): 259-264, 2023 Mar.
Article in English | MEDLINE | ID: mdl-36169791

ABSTRACT

BACKGROUND: Biphenotypic sinonasal sarcoma (BSS) is a low-grade, locally aggressive sarcoma unique to the sinonasal region. BSS is most common in middle aged patients and affects women more frequently than men. It is characterized by a bland spindled cell proliferation with neural and myogenic differentiation. BSS are usually associated with rearrangement t(2;4)(q35;q31.1) resulting in a PAX3::MAML3 fusion. Less commonly, other genes are found in combination with PAX3 and some cases reported in the literature have an unknown fusion partner. METHODS: A 54-year-old man presented with nasal mass. Endoscopic resection showed a low-grade spindle cell neoplasm with morphologic features of BSS and immunohistochemical and next generation sequencing were performed to confirm the diagnosis. RESULTS: The tumor was positive for S100 and smooth muscle actin but negative for SOX10. Next generation sequencing demonstrated a novel PAX3::FOXO6 gene fusion. CONCLUSIONS: Although a PAX3::FOXO6 gene fusion has never been reported, this finding combined with the morphologic and immunophenotypic features supports the diagnosis of supports the diagnosis of BSS.


Subject(s)
Paranasal Sinus Neoplasms , Sarcoma , Soft Tissue Neoplasms , Middle Aged , Male , Humans , Female , PAX3 Transcription Factor/genetics , Immunohistochemistry , Transcription Factors/genetics , Paranasal Sinus Neoplasms/pathology , Sarcoma/pathology , Soft Tissue Neoplasms/genetics , Biomarkers, Tumor/genetics , Forkhead Transcription Factors
9.
Int J Surg Pathol ; 31(5): 721-727, 2023 Aug.
Article in English | MEDLINE | ID: mdl-36113458

ABSTRACT

Well-differentiated/dedifferentiated liposarcoma (WDLPS/DDLPS) represent a significant number of sarcomas arising within the paratesticular region. DDLPS is notorious for a broad histologic spectrum, but epithelioid morphology is rare. Herein, we describe a unique case of paratesticular DDLPS with prominent epithelioid features and molecular confirmation. The patient is 71-year-old-male who presented with multiple paratesticular masses. Morphologic review of the resection specimen revealed a biphasic adipocytic neoplasm consistent with DDLPS. Additionally, epithelioid foci with acinar and nested architecture and focal keratin expression were noted. These areas raised the possibility of a secondary neoplasm including sex cord stromal tumor, germ cell tumor, and paraganglioma. However, MDM2 immunohistochemistry and FISH showed these areas to express MDM2 and exhibit MDM2 amplification, respectively, confirming that they represented a component of DDLPS. This case further highlights the morphologic diversity of DDLPS as well as the utility of MDM2 studies.


Subject(s)
Liposarcoma , Sarcoma , Soft Tissue Neoplasms , Male , Humans , Liposarcoma/diagnosis , Liposarcoma/surgery , Sarcoma/pathology , Immunohistochemistry , Soft Tissue Neoplasms/diagnosis
10.
Diagnostics (Basel) ; 12(10)2022 Oct 14.
Article in English | MEDLINE | ID: mdl-36292175

ABSTRACT

(1) Background: Although the specificity of brush cytology for the detection of malignant pancreaticobiliary strictures is high, its sensitivity is low. Fluorescence in situ hybridization (FISH) can be used to detect chromosomal aneuploidy in biliary brushing specimens, and when used as an adjunct to routine cytology, it significantly improves diagnostic sensitivity. (2) Methods: We searched our laboratory information system to identify all bile duct brush cytology cases with follow-up surgical pathology between January 2001 and September 2019. Cytologic diagnoses were classified as negative, atypical, suspicious, or malignant. Correlated surgical pathological diagnoses were classified as benign or malignant. FISH test results were obtained for a subset of cytology cases with concurrent FISH testing, and the sensitivity, specificity, positive predictive value, and negative predictive value in identifying malignancy for cytology alone, FISH alone, and combined cytology and FISH were calculated. (3) Results: A total of 1017 brushing cytology cases with histologic correlation were identified. A total of 193 FISH tests were performed concurrently with cytological specimens. Malignant diagnoses were identified in 623 of 1017 patients, while 394 patients had benign strictures. The sensitivity, specificity, positive predictive, and negative predictive rate were 65%, 78%, 83%, and 49% for cytology alone; 72%, 67%, 63%, and 68% for FISH alone; and 85%, 42%, 60%, and 74% for combined cytology and FISH, respectively. Among FISH-positive cases, the risk of malignancy for polysomy was 82% and 32% for trisomy. (4) Conclusions: FISH improves the sensitivity and negative predictive rate of bile duct brush cytology. The combination of cytology and FISH has increased the sensitivity from 65% to 85% and the negative predictive rate from 49% to 74% when compared to cytology alone. A patient with a polysomy FISH result had a significantly higher risk of malignancy than a patient with a trisomy 7 result (82% vs. 32%, p < 0.00001).

11.
Mod Pathol ; 34(10): 1921-1934, 2021 10.
Article in English | MEDLINE | ID: mdl-34099871

ABSTRACT

Thyroid-like follicular renal cell carcinoma is an uncommon kidney tumor with no distinct molecular alteration described to date. This cohort of eight women with mean and median ages of 45 and 46 years, respectively (range 19-65 years), had unencapsulated, well-circumscribed tumors composed of tightly packed anastomosing follicle-like cysts filled with eosinophilic colloid-like material and lined by cuboidal cells with high nuclear to cytoplasmic ratios, oval to elongated nuclei with perpendicular arrangement toward the lumens, and prominent nuclear overlapping. The stroma between these was minimal with the exception of two tumors. Calcifications and necrosis were absent. Immunohistochemically, the tumors were positive for KRT19 (7/7), PAX8 (5/5), cyclin D1 (6/6), KRT7 (5/7), and AMACR (1/5; focal, weak), and were negative for WT1, TTF1 (transcription termination factor-1), and thyroglobulin. In three of three tumors tested molecularly, EWSR1-PATZ1 fusion was identified by RNA sequencing and confirmed by RT-PCR and Sanger sequencing. Over a follow-up period of 1-7 years, no evidence of recurrence or metastasis has been detected. The EWSR1-PATZ1 fusion has been recognized as a recurrent alteration in a subset of round to spindle cell sarcomas with EWSR1-non-ETS fusions (EWSR1-PATZ1 sarcoma) and in several central nervous system tumors. The finding of an EWSR1-PATZ1 fusion in all three of the thyroid-like follicular renal cell carcinomas for which sufficient tissue was available for genomic profiling provides the first distinct molecular abnormality in thyroid-like follicular renal cell carcinomas, supporting its designation as a distinct diagnostic entity.


Subject(s)
Carcinoma, Renal Cell/genetics , Kidney Neoplasms/genetics , Kruppel-Like Transcription Factors/genetics , Oncogene Fusion , RNA-Binding Protein EWS/genetics , Repressor Proteins/genetics , Adult , Aged , Carcinoma, Renal Cell/pathology , Female , Humans , Kidney Neoplasms/pathology , Male , Middle Aged , Young Adult
12.
Diagn Cytopathol ; 49(7): E238-E241, 2021 Jul.
Article in English | MEDLINE | ID: mdl-33373500

ABSTRACT

Hepatic angiomyolipoma (HAML) is a rare mesenchymal neoplasm that belongs to the perivascular epithelioid tumor family. Though it is characteristically, a triphasic tumor composed of smooth muscle, blood vessels, and adipocytes, the smooth muscle cells are often epithelioid and can represent the near-entirety of the tumor. A HAML composed predominantly of epithelioid smooth muscle cells occurring in the liver presents significant diagnostic challenges as many liver tumors are composed of large epithelioid cells. Furthermore, even if the tumor is not composed predominantly of epithelioid smooth muscle cells, this may be the only component present in a fine-needle aspiration (FNA) or core needle biopsy. A 38-year-old female with a 3 month history of abdominal pain, nausea, and diarrhea was found to have a 12 cm right hepatic lobe mass. FNA biopsy revealed a moderately cellular specimen composed of plump epithelioid cells with indistinct cell borders, low N:C ratio, round to oval nuclei, fine chromatin, occasional nucleoli, and abundant vacuolated to fibrillary cytoplasm. Rare intranuclear inclusions and occasional foamy macrophages were noted. Concurrent core biopsy revealed large polygonal cells with eccentric nuclei and clear, vacuolated to granular, eosinophilic cytoplasm that stained strongly for HMB45, confirming the diagnosis of HAML. Because HAML is a rare tumor, this diagnosis can be easily overlooked; cognizance of the typical cytologic, histologic, and immunophenotypic findings is crucial to establishing a diagnosis.


Subject(s)
Angiomyolipoma/diagnosis , Biopsy, Fine-Needle , Biopsy, Large-Core Needle , Liver Neoplasms/diagnosis , Adult , Epithelioid Cells/pathology , Female , Humans
13.
Hum Pathol ; 103: 25-33, 2020 09.
Article in English | MEDLINE | ID: mdl-32619438

ABSTRACT

The testicular hilum and paratestis contain several embryologically diverse anatomic structures, including the spermatic cord, tunica vaginalis, epididymis, rete testis, and several other embryonic remnants. Several benign and malignant lesions arise from these morphologically distinct structures, and owing to their proximity, it is challenging to classify and subsequently stage these tumors. Herein, we conducted a retrospective review of the paratesticular appendageal and rete testis tumors and tumor-like lesions diagnosed at our department from 1985 to 2016. Soft-tissue lesions/tumors were excluded. A total of 146 paratesticular appendageal and rete testis tumors and tumor-like lesions were identified. Most were benign (n = 107; 73%). Adenomatoid tumor (26%) was the most common benign tumor, followed by different types of cysts (19%), mesothelial hyperplasia (18%), serous cystadenoma (5.5%), and rete testis adenoma (4%). Malignant lesions comprised 23% of the cases, with mesothelioma the most common (15%), followed by adenocarcinoma of the rete testis (4%), serous cystadenocarcinoma (2%), and papillary and clear cell adenocarcinoma of the epididymis (2%). Finally, serous borderline tumors and melanotic neuroectodermal tumor (retinal anlage tumors) comprised the remaining 4% of cases. In conclusion, a wide range of benign and malignant lesions can arise from the paratesticular region. Awareness of these lesions and their histologic spectrum is crucial to avoid diagnostic pitfalls and to allow pathologists to establish a correct diagnosis and subsequent treatment plan.


Subject(s)
Testicular Diseases/pathology , Testicular Neoplasms/pathology , Humans , Male , Retrospective Studies
14.
Int J Surg Pathol ; 28(7): 721-727, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32362187

ABSTRACT

Context. Primary renal mesenchymal neoplasms are rare but diverse. Several neoplasms of mesenchymal derivation can arise as a primary renal mass; however, incidental tumors are identified in nephrectomies performed for end-stage renal disease or other malignant epithelial renal neoplasms. In this article, we document their frequencies with demographic information in nephrectomy specimens. Design. We retrospectively searched our database for nephrectomy specimens from the year 2000 to 2016. Results. A total of 224 cases were identified with an incidence rate of 4.4% (224/5128). One hundred ninety (85%) neoplasms were benign, 27 (12%) were malignant, and 7 (3%) were of intermediate biologic behavior. The majority of cases occurred in adults (93%, 208/224), and 39% of cases represented an incidental finding. The most common neoplasms were angiomyolipoma (58%) and renomedullary interstitial cell tumor (17%). Malignant mesenchymal kidney tumors are rare (0.39% of nephrectomy specimens). The most common adults' malignant tumors in our survey were synovial sarcoma and Ewing's sarcoma. Conclusion. Primary renal mesenchymal tumors are rare and are mostly benign in nature with many incidentally identified lesions. They arise in different age groups with malignant lesions usually presenting at a younger mean age.


Subject(s)
Kidney Neoplasms/pathology , Neoplasms, Connective and Soft Tissue/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Child , Child, Preschool , Female , Humans , Incidental Findings , Infant , Male , Middle Aged , Nephrectomy , Retrospective Studies , Young Adult
15.
Hum Pathol ; 99: 27-35, 2020 05.
Article in English | MEDLINE | ID: mdl-32220606

ABSTRACT

Smooth muscle hyperplasia of the testicular adnexa (SMH-TA) is a rare mass-forming intrascrotal lesion. Although benign, it can be a diagnostic challenge, as we have seen in our consult practice. Herein, we discuss our experience with these lesions over 14 years. Twelve SMH-TA cases were identified in our institutional records between 2005 and 2019. The morphologic features were reviewed. Clinical information was obtained from physicians' notes. The mean age was 51 years (range, 24-82 years). Six cases were on the left side, five on the right, and one was bilateral. The most common presentations were orchialgia (n = 10) and mass (n = 6). Two patients had a concurrent incarcerated inguinal hernia, and one had a recent groin trauma. Past medical history included 5 patients with previous surgeries in the inguinal region, 2 with a history of treated infections, and 1 with persistent chronic orchitis. Eight patients have undergone ultrasound imaging which showed lesions (n = 4), hematoma (n = 1), undescended testis (n = 1), or no abnormalities (n = 2). Grossly, the mean size was 1.7 cm (range, 1.0-3 cm). The lesions had ill-defined, focally cystic, pink-tan nodular surface. Microscopically, the lesions were comprised of an ill-defined smooth muscle proliferation arranged in fascicles or haphazard fashion, growing in a periductal, perivascular, interstitial, or most commonly in a mixed pattern. SMH-TA is a rare benign entity that can present clinically as orchialgia and/or a suspicious intrascrotal mass. As suggested in previous studies, we believe that this lesion represents a reactive process.


Subject(s)
Cell Proliferation , Muscle, Smooth/pathology , Myocytes, Smooth Muscle/pathology , Testicular Diseases/pathology , Testis/pathology , Adult , Aged , Aged, 80 and over , Biopsy , Databases, Factual , Diagnosis, Differential , Humans , Hyperplasia , Male , Middle Aged , Muscle, Smooth/surgery , Predictive Value of Tests , Testicular Diseases/surgery , Testis/surgery , Young Adult
16.
Appl Immunohistochem Mol Morphol ; 28(4): 311-315, 2020 04.
Article in English | MEDLINE | ID: mdl-30664532

ABSTRACT

STAT6 stain has proved to be a good surrogate marker for the genetic alteration (NAB2-STAT6 gene fusion) in solitary fibrous tumor (SFT). This study aims to validate the use of STAT6 rabbit monoclonal antibody in differentiating SFT from its histologic mimics. Forty-five cases of SFT and 110 cases from 9 other spindle cell tumors were collected for STAT6 immunostaining. Positive nuclear STAT6 staining was present in all 45 SFT cases (100% sensitivity). No nuclear staining was identified in other spindle cell neoplasms (0/13, dedifferentiated liposarcoma; 0/17, synovial sarcoma; 0/16, malignant peripheral nerve sheath tumors; 0/25, undifferentiated pleomorphic sarcoma; 0/10, dermatofibrosarcoma protuberans; 0/9, low-grade fibromyxoid sarcoma; 0/6, angiofibroma; 0/5, deep fibromatosis; 0/9, gastrointestinal tumor). The STAT6 staining in SFT was usually diffuse (5+ in 19 cases; 4+ in 17 cases) and strong (40 cases). Monoclonal STAT6 stain is highly sensitive and specific for SFTs and particularly useful in the diagnosis of difficult SFT cases.


Subject(s)
Antibodies, Monoclonal/chemistry , Antibodies, Neoplasm/chemistry , Gene Expression Regulation, Neoplastic , Immunohistochemistry , Neoplasm Proteins/biosynthesis , STAT6 Transcription Factor/biosynthesis , Solitary Fibrous Tumors , Adult , Aged , Aged, 80 and over , Animals , Female , Humans , Male , Middle Aged , Rabbits , Solitary Fibrous Tumors/metabolism , Solitary Fibrous Tumors/pathology
17.
Appl Immunohistochem Mol Morphol ; 28(3): 221-228, 2020 03.
Article in English | MEDLINE | ID: mdl-30789354

ABSTRACT

Synovial sarcoma (SS) is a high-grade sarcoma that rarely involves the kidney. Eleven renal SS cases were collected in our institution. Immunostaining features and molecular changes of renal SS were further elucidated in this study. PAX 8 was focally positive in 1 monophasic SS and diffusely positive in both the spindled and epithelial components in 1 biphasic SS. These 2 PAX8 expressing renal SS were confirmed by the presence of the classic t(X;18) translocation. Our study also revealed the presence of extra copies of the SS18 in one biphasic SS and one poorly differentiated SS. The SS18 (SYT) gene rearrangement is useful for confirming the SS diagnosis. However, a negative test (FISH or RT-PCR) does not rule out the diagnosis. Although not as common, other chromosomal alterations, such as polysomy 18, indeed occur in renal synovial sarcoma.


Subject(s)
Chromosomes, Human, Pair 18/genetics , Chromosomes, Human, X/genetics , Gene Expression Regulation, Neoplastic , Kidney Neoplasms , Neoplasm Proteins , PAX8 Transcription Factor , Sarcoma, Synovial , Translocation, Genetic , Adolescent , Adult , Female , Humans , Immunohistochemistry , Kidney Neoplasms/genetics , Kidney Neoplasms/metabolism , Kidney Neoplasms/pathology , Male , Middle Aged , Neoplasm Proteins/biosynthesis , Neoplasm Proteins/genetics , PAX8 Transcription Factor/biosynthesis , PAX8 Transcription Factor/genetics , Sarcoma, Synovial/genetics , Sarcoma, Synovial/metabolism , Sarcoma, Synovial/pathology
18.
Diagn Cytopathol ; 48(2): 138-143, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31763783

ABSTRACT

BACKGROUND: Many prior institutional and multi-institutional studies have applied the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) retrospectively to their specimens to determine the risk of malignancy (ROM) of each category. Most of these studies focused on general assessment of the system and risk classification. However, there seems to be less focus on the category of atypia of undetermined significance (AUS) that could be attributed to the low number of cases that could fit into this category. Herein, we present a bi-institutional experience with this category. METHODS: A computerized search of the databases was performed to identify all salivary gland fine-needle aspiration (FNA) in two institutions over a period of 12 years. The final diagnosis of each case was reclassified based on MSRSGC, and histology follow-up was retrieved. RESULTS: Sixty AUS cases (out of 1560 salivary gland FNA) were identified with a rate of 3.8%. Forty cases (66%) had a subsequent tissue material. Correlation with histology revealed that the estimated ROM is 37.5% (15/40) and the overall ROM is 25% (15/60). Fifty percent of the cases had a prominent lymphoid component and most commonly represented lymphomas, reactive lymph node or sialadenitis. CONCLUSION: The AUS category is a heterogeneous group of lesions with predominant lymphoid-rich entities. Some variability exists between institutions with most having higher ROM than the suggested 20% by the MSRSGC atlas.


Subject(s)
Salivary Gland Neoplasms/epidemiology , Salivary Glands/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy, Fine-Needle/statistics & numerical data , Child , Humans , Middle Aged , Salivary Gland Neoplasms/classification , Salivary Gland Neoplasms/pathology
19.
Am J Clin Pathol ; 151(6): 613-621, 2019 05 03.
Article in English | MEDLINE | ID: mdl-30852595

ABSTRACT

OBJECTIVES: Multi-institutional studies are required for the validation of the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC). METHODS: A total of 1,560 fine-needle aspirations of the salivary glands were retrieved from two institutions for a 12-year period. The diagnoses were reclassified based on the MSRSGC. Risk of malignancy (ROM) for each category was calculated based on 694 histologic follow-up cases. RESULTS: The ROM for each category was: 18.3% for nondiagnostic, 8.9% for nonneoplastic, 37.5% for atypia of undetermined significance (AUS), 2.9% for benign neoplasm, 40.7% for salivary gland neoplasm of uncertain malignant potential (SUMP), 100% for suspicious for malignancy, and 98.3% for malignant. The sensitivity, specificity, positive predictive rate, and negative predictive rates were 89%, 99%, 98%, and 96%, respectively. CONCLUSIONS: The results of the current study are in keeping with the MSRSGC. The indeterminate categories of AUS and SUMP showed intermediate ROMs at 37.5% and 40.7%, respectively.


Subject(s)
Salivary Glands/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy, Fine-Needle , Child , Child, Preschool , Female , Humans , Infant , Male , Middle Aged , Retrospective Studies , Salivary Gland Neoplasms/pathology , Young Adult
20.
Cancer Cytopathol ; 126(11): 924-933, 2018 11.
Article in English | MEDLINE | ID: mdl-30335220

ABSTRACT

BACKGROUND: The newly unveiled Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) has proposed salivary gland neoplasm of uncertain malignant potential (SUMP) as an indeterminate category. The category is reserved for fine-needle aspiration (FNA) cases that are diagnostic of a salivary gland neoplasm but cannot be further designated as a specific tumor type. The objective of the current study was to evaluate the clinical utility of subtyping SUMP cases based on different cell types. METHODS: A retrospective search of cytology databases at 2 institutions for salivary gland FNAs from 2006 through 2017 was conducted. The cytologic diagnosis of each case was reclassified according to the MSRSGC. Histologic follow-up was retrieved for correlation. Cases reclassified as SUMP that had a follow-up pathologic diagnosis were subject to cytology review and subtyping into oncocytic/squamoid, basaloid, or myoepithelial subtypes based on cytomorphology. The risk of malignancy (ROM) for each subtype was analyzed. RESULTS: There were 92 SUMP cases, which comprised 5.9% of 1560 consecutive salivary gland FNAs within the 12-year study period. Histologic follow-up was available for 59 patients. After cytology review, there were 18 cases (30.5%) of oncocytic/squamoid subtype, 25 (42.4%) of basaloid subtype, and 16 (27.1%) of myoepithelial subtype. Pathologic correlation revealed an ROM of 61.1% (11 of 18 cases) for the oncocytic/squamoid subtype, 40.0% (10 of 25 cases) for the basaloid subtype, and 18.8% (3 of 16 cases) for the myoepithelial subtype. The differences in ROM among the 3 subtypes were statistically significant (P = .0476). CONCLUSIONS: Subtyping SUMP cases into categories based on cell type demonstrated differential ROMs for better clinical stratification. Future prospective studies are mandatory to confirm this finding.


Subject(s)
Biopsy, Fine-Needle/methods , Precancerous Conditions/pathology , Salivary Gland Neoplasms/pathology , Salivary Glands/pathology , Adolescent , Adult , Aged , Aged, 80 and over , Biopsy, Fine-Needle/statistics & numerical data , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Precancerous Conditions/classification , Precancerous Conditions/diagnosis , Retrospective Studies , Salivary Gland Neoplasms/classification , Salivary Gland Neoplasms/diagnosis , Young Adult
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