Fine-needle Aspiration Biopsy Smears Research Articles

Xpert Breast Cancer STRAT4 Assay using fine-needle aspiration biopsy samples in a resource-constrained setting: a prospective diagnostic accuracy study

Use of fine-needle aspiration biopsy (FNAB) specimens on Xpert Breast Cancer STRAT4 Assay (STRAT4; Cepheid, Sunnyvale, CA, USA), a CE-marked in-vitro diagnostic medical device, could potentially increase access to breast cancer biomarker testing in resource-constrained settings. We aimed to assess the performance of a research use-only version of STRAT4 using FNAB specimens in Tanzania. In this prospective diagnostic accuracy study, patients aged 18 years or older with palpable breast masses presenting to the FNAB Clinic at Muhimbili National Hospital (Dar es Salaam, Tanzania) were recruited consecutively. Patients who were pregnant, lactating, or had a previous diagnosis of breast cancer were excluded. STRAT4 testing was performed on off-label FNAB samples using four protocols: the 1 × protocol (using the standard lysate method) on FNAB smears (1 × FNAB), quick lysis and Maui protocols (both on FNAB smears), and the 1 × protocol on formalin-fixed paraffin-embedded (FFPE) cell block material (1 × cell block). For 1 × FNAB and 1 × cell block, tissue was processed using FFPE lysis reagent, incubated at 80°C with proteinase K, and followed by addition of 95% or higher ethanol. Quick lysis was processed using FFPE lysis reagent and 95% or higher ethanol, whereas Maui was processed using a proprietary research-use only lysis reagent. The primary outcomes were overall concordance, sensitivity, specificity, and area under the receiver operating characteristic curve (AUC) of STRAT4 as compared with immunohistochemistry or immunohistochemistry plus fluorescence in-situ hybridisation performed on cell blocks using clinically validated protocols in a Clinical Laboratory Improvement Amendments-accredited laboratory at the University of California, San Francisco (San Francisco, CA, USA). Between Nov 29, 2017, and Dec 17, 2020, 208 patients were enrolled. Of 208 cases, 51 (25%) were excluded from analysis because of insufficient tissue in the cell block or absent cell blocks, leaving 157 participants (all female) for analysis. For oestrogen receptor, 1 × FNAB had the best performance, with an overall concordance of 95% (95% CI 90-100), sensitivity of 94% (85-100), specificity of 97% (90-100), and AUC of 0·96 (0·81-1·00). For progesterone receptor, 1 × cell block had the best overall performance (overall concordance 89% [95% CI 84-95], sensitivity 91% [82-99], and specificity 89% [81-97], with an AUC of 0·93 [0·89-0·99]) and 1 × FNAB performed the best among the smear protocols, with a concordance of 84% (95% CI 74-93), sensitivity of 63% (43-82), specificity of 97% (92-100), and AUC of 0·91 (0·72-0·97). For HER2, Maui had the highest agreement, with an overall concordance of 93% (95% CI 89-98), sensitivity of 96% (88-100), specificity of 92% (87-98), and AUC of 0·95 (0·98-1·00). For Ki67, Maui had the best performance of smear protocols, with a concordance of 73% (95% CI 64-82), sensitivity of 70% (58-81), specificity of 81% (66-96), and AUC of 0·80 (0·54-0·82). Processing FNAB samples with STRAT4 is feasible in Tanzania, and performance for the oestrogen receptor is robust. Further optimisation of STRAT4 for FNAB has the potential to improve timely access to breast cancer diagnostics in resource-constrained settings. US National Institutes of Health; UCSF Global Cancer Program, Helen Diller Family Comprehensive Cancer Center; UCSF Department of Pathology; and Cepheid.

Fine-needle Aspiration Biopsy of Pilomatrixoma (Cytological Features of Six Cases Histologically Approved).

Pilomatrixoma is a rare, benign, slow-growing tumor of the hair matrix. Excisional biopsy is often the preferred method of diagnosis for cutaneous masses including pilomatrixoma. However, fine-needle aspiration is also performed on these lesions. There are very few reports on the cytologic features of pilomatrixoma in fine-needle aspiration. In this study, we aimed to evaluate the clinical and cytological features of six cases of pilomatrixoma, which were confirmed histopathologically. The study includes six cases of pilomatrixoma, which were diagnosed by two cytopathologists in 2019 and 2022. A detailed cytological analysis was done by a semiquantitative method. Cellularity, basaloid cells, squamous cells, giant cells, shadow cells, naked nuclei, calcium deposits, inflammation, and debris were semiquantified from 0 to 3+. The ages of patients ranged from 8 to 63 years old. The male-to-female ratio was 2:1. All cases occurred in the head and neck area. The cytological diagnosis was pilomatrixoma in five cases and epidermoid/dermoid cyst in one case. The surgical excision was performed in all patients. The diagnosis of pilomatrixoma was confirmed histologically in all cases. Fine-needle aspiration biopsy (FNAB) of pilomatrixoma can be a diagnostic challenge. There are very few reports on the cytologic features of pilomatrixoma in FNAB smears. The presence of ghost cells and basaloid cells should suggest the possibility of pilomatrixoma. The presence of giant cells, fibrillary matrix, calcium deposits, squamous cells, naked nuclei, inflammation, and debris are cytological findings supporting the diagnosis.

Granulomatous mastitis: A diagnostic challenge-3 year single institutional experience.

Granulomatous mastitis (GM) is often clinico-radiologically misdiagnosed as breast malignancy. Tuberculosis, foreign body reactions, fungal and parastic infections, and autoimmune diseases can cause GM. The present study aimed to assess the spectrum of GM on fine-needle aspiration biopsy (FNAB) smears along with its histopathological and clinico-radiological findings. It was a retrospective study which included all cases of GM diagnosed onFNABover a period of 3 years. The histopathological diagnosis was retrieved, wherever possible. All the FNA smears and histopathological sections were reviewed for the presence of epithelioid granulomas, necrosis, epithelioid histiocytes, inflammatory cells including plasma cells, neutrophils, eosinophils, multinucleated giant cells, and epithelial component and associated atypia, if any. The inflammatory cells and multinucleated giant cells were graded on a scale of 0 to 3+ in every case. Among the 22 cases evaluated, the most common inflammatory infiltrate was lymphocyte followed by neutrophils and eosinophils. Caseous necrosis was appreciated in 7 (31.8%) cases, out of which 5 (22.7%) were diagnosed as tubercular mastitis on FNA smears. Ziehl Neelson stain was done in all FNAB smears and AFB was positive in 7 (31.8%) cases. Histopathological correlation was available for 14 cases (63.6%). The most common diagnosis on histopathology was idiopathic GM having lobulo-centric granulomatous inflammation, epithelioid histiocytes, neutrophils, and lymphocytes. FNAB is a reliable and minimally invasive tool to diagnose tubercular mastitis, idiopathic GM and also ruling out clinicoradiological suspicion of malignancy. Careful examination of cytological smears can prevent an unnecessary biopsy in granulomatous lesions of breast.

Fine needle aspiration cytopathology of pleomorphic dermal sarcoma.

Pleomorphic dermal sarcoma (PDS) is an uncommon cutaneous mesenchymal neoplasm. It is cytomorphologically identical to atypical fibroxanthoma (AFX), but differs due to its invasion beyond the dermis. We undertook an examination of our experience with fine needle aspiration (FNA) biopsy cytology of PDS. Our cytopathology files were searched for examples of PDS with concomitant histopathological verification. FNA biopsy smears and cell collection were performed using standard techniques. Seven cases of PDS were retrieved from four different patients (M:F, 1:1; age range: 63-88 years; mean age = 78 years). All patients (57%) presented with a primary tumour with one having an FNA biopsy of two local recurrences and a single distant metastasis. Five aspirates were from the extremities and two from the head/neck. Tumours ranged from 1.0 to 3.5 cm (mean, 2.2 cm). Specific cytological diagnoses were pleomorphic spindle/epithelioid sarcoma (3 cases), PDS (2), AFX (1), and atypical myofibroblastic lesion, query nodular fasciitis (1). Immunohistochemical (IHC) staining from FNA-generated cell blocks in two cases showed non-specific staining with vimentin in both cases; positive CD10, CD68, and INI-1 staining in one case; and smooth muscle actin expression in the other. Multiple negative stains were performed in both of these cases to exclude malignant melanoma, carcinoma, and specific forms of sarcoma. Cytopathology consisted of a mixture of spindle, epithelioid, and bizarre pleomorphic cells. Coupled with ancillary IHC stains, FNA biopsy can help recognise PDS as a sarcomatous cutaneous neoplasm, but is unable to distinguish PDS from AFX.

Cytopathology of salivary gland myoepithelial carcinoma: A study of 13 cases and review of the literature

Myoepithelial carcinoma (MECA) is an infrequently recognized salivary gland (SG) neoplasm that commonly develops within a preexisting pleomorphic adenoma (MECA ex PA). Fine-needle aspiration (FNA) biopsy reports of this neoplasm are largely restricted to small series and single case reports. Our cytopathology files were searched for examples of SG MECA/MECA ex PA having confirmatory histopathologic verification. Conventional FNA biopsy smears were performed, and exfoliative specimens processed using standard techniques. Thirteen cases from 9 patients (M:F = 3.5:1; age range: 36 to 95 years, mean age = 60 years) met inclusion criteria. FNA biopsy sites included parotid gland (4), trunk (2), scalp (2), and neck (2). Exfoliative specimens included pleural fluid (1), bronchial brushing (1), and bronchoalveolar lavage (1). Most cases were metastatic deposits (8; 62%), 4 were primary neoplasms, and 1 a local recurrence. FNA diagnoses were MECA ex PA (6; 46%), myoepithelial neoplasm (2), PA (2), basaloid neoplasm (1), atypical myoepithelial cells (1), and myxoma (1). Ancillary testing in 2 cases showed positive staining for myoepithelial markers. Cytologic features were that of a low-grade neoplasm composed principally of epithelioid/polygonal cells exhibiting minimal if any cytologic atypia. Myxoid and chondromyxoid stroma was often the dominant feature in MECA ex PA aspirates. In the primary setting, a cytologic diagnosis of MECA/MECA ex PA is extremely challenging if at all possible. Due to overwhelming amounts of stroma, the diagnosis may be challenging in some cases of metastatic MECA ex PA.

Atypical spindle cell/pleomorphic lipomatous tumour (ASPLT): A report of three FNA cases and comparison with spindle cell/pleomorphic lipoma cytopathology.

Atypical spindle cell/pleomorphic lipomatous tumour (ASPLT) is an infrequently appreciated benign lipomatous neoplasm newly accepted into the most recent WHO classification of soft tissue tumours. Our cytopathology files were searched for examples of ASPLT and spindle cell/pleomorphic lipoma (SCPL) having histopathological verification. Conventional fine needle aspiration (FNA) biopsy smears were performed using standard techniques. Eleven patients including three cases of ASPLT and eight of SCPL (M:F=4.5:1; age range: 39-97 years, mean age=60 years) met the inclusion criteria. FNA biopsy sites included extremity (5, 45%), trunk (3, 27%), and head/neck (3, 27%). All aspirates were from primary neoplasms. FNA diagnoses of ASPLT cases were spindle cell lipomatous neoplasm, fibrotic low-grade SC neoplasm, and myxoid lipomatous neoplasm. Eight SCPL cases were diagnosed as spindle cell neoplasm (3), spindle cell lipoma (SCL) (1), pleomorphic lipoma (1), suspicious for SCL (1), benign adipose tissue (1), and benign spindle cells and connective tissue (1). Ancillary testing in two ASPLT cases showed positive CD34 and negative MDM2 immunostain in one, and negative FISH results for MDM2 and DDIT3 in another. ASPLT is a novel lipomatous neoplasm simulating primarily SCPL and atypical lipoma/well-differentiated liposarcoma. Diligent cytomorphological observation, clinical information, and ancillary testing may allow for its specific recognition using FNA biopsy.

Chordoma: analysis of 47 fine-needle aspiration biopsy, cytologic imprint, and small biopsy specimens.

Fine-needle aspiration (FNA) and small tissue biopsy of chordoma have been reported in several small series, but no large series exists. We undertook an examination of 47 cases (with concurrent core needle biopsy in a subset) to analyze diagnostic accuracy, cytomorphology, and immunohistochemistry. Our cytopathology files were searched for examples of chordoma with histopathologic verification. FNA biopsy smears and core needle were performed using standard techniques. Forty-seven cases of chordoma were retrieved from 44 patients [M:F; 1.8:1; age range 5-81 years; mean age 55 years]. Twenty-seven presented with primary, 10 with locally recurrent, and 7 with metastatic tumors. Two aspirates were from the appendicular skeleton, 2 from the trunk, 1 from neck lymph node, and 42 aspirates (89%) from axial and peri-axial skeleton and surrounding soft tissues. Four were cytologic touch imprints while the remainder were FNA biopsy specimens. Specific cytologic diagnoses were chordoma/consistent with chordoma (44 cases, 94%), suspicious for chordoma (2), and malignant neoplasm (1). Along with a single case of benign notochordal tumor misdiagnosed as chordoma, our diagnostic accuracy was 91%. Concurrent tissue biopsy was performed in 51% of cases. Immunohistochemical staining of tumor in 29 (62%) cases showed expression of brachyury in 23 of 24 (96%) instances. Cytopathology consisted of cellular smears populated by large cells possessing enormous amounts of vacuolated and non-vacuolated cytoplasm with an abundant background myxoid/chondromyxoid stroma. FNA and small tissue biopsy specimens show a very high degree of diagnostic accuracy in recognition of chordoma.

Standardization of Number of Fine-Needle Aspiration Biopsy Smears and its Effect on Adequacy in Evaluation of Thyroid Nodules

Standardization of Number of Fine-Needle Aspiration Biopsy Smears and its Effect on Adequacy in Evaluation of Thyroid Nodules

Pleomorphic liposarcoma: A clinicopathologic study of 20 FNA cases.

Pleomorphic liposarcoma (PLPS) is the least common but most aggressive of all forms of liposarcoma (LPS). Its diagnosis relies on the recognition of pleomorphic lipoblasts (PLBs), whose numbers vary considerably. Because few large fine-needle aspiration (FNA) biopsy studies exist, the authors review their experience with PLPS. The authors' cytopathology files were searched for PLPS with histopathologic verification. FNA biopsy smears were performed via standard techniques. Twenty cases from 20 patients (male/female ratio, 2.3/1; age range, 22-77 years; mean age, 58 years) met the inclusion criteria. All had tissue confirmation. Biopsy sites included the following: thigh (11 [55%]), upper extremity (4 [20%]), axilla (2 [10%]), neck (1 [5%]), chest wall (1 [5%]), and mediastinum (1 [5%]). Aspirates were from primary (17 [85%]), locally recurrent (2 [10%]), and metastatic neoplasms (1 [5%]). The FNA diagnoses were PLPS (10 [50%]), myxofibrosarcoma (4 [20%]), LPS (2 [10%]), sarcoma (2 [10%]), and high-grade malignant neoplasm (2 [10%]). Smears showed thick cell clusters and dissociated single forms. Pleomorphic, epithelioid, and bizarre cell/nuclear shapes were common. PLBs were absent, rare, or unnoticed in 45%. In 25%, smears dominated by myxoid stroma were diagnosed as high-grade myxofibrosarcoma or myxoid LPS. Ancillary testing performed in 5 cases had limited diagnostic efficacy. FNA biopsy of PLPS, although able to successfully recognize malignancy, suffers from a sampling bias due to an inability to capture or recognize PLBs in a significant proportion of cases secondary to the heterogeneous composition of this neoplasm.

Salivary duct carcinoma: A report of 70 FNA cases and review of the literature.

Although usually recognized as malignant, fine-needle aspiration (FNA) biopsy of salivary duct carcinoma (SDC) has been confused with other primary salivary gland (SG) neoplasms. This article undertook an analysis of a large collection of SDC FNA cases to assess diagnostic accuracy, specificity, and cytopathology. Cytopathology files were searched for SDC with histopathologic validation. FNA biopsy smears were performed using standard techniques. Seventy cases from 56 patients (M:F, 1.9:1; age range, 26-92 years; mean age, 65 years) met inclusion criteria. All had tissue confirmation of SDC. FNA sites included: parotid gland (42, 60% cases), neck (10), submandibular gland (7), pre-/post-auricular area (5), face/cheek (3), mediastinal lymph nodes (2), and clavicle (1). Aspirates were from primary (52, 74%), metastatic (12, 17%), and locally recurrent (6, 9%) neoplasms. FNA diagnoses included: SDC (19, 27%), favor/suspicious for SDC (7, 10%), high-grade carcinoma (11), adenocarcinoma (9), carcinoma (6), malignant (6), SG neoplasm (5), atypia (3), SDC versus another malignancy (2), and pleomorphic adenoma (2). Large polygonal cells in groups and single forms showed cribriforming, variable necrosis, pseudopapillae, and oncocytic change. Androgen receptor staining was positive in all cases. FNA biopsy is accurate and reliable in classifying SDC as a malignant neoplasm, but much less so for identification as a specific tumor type. Using the Milan system, 86% of aspirates were classified as either malignant or suspicious for malignancy. A recurring pitfall includes sampling error in cases of SDC ex pleomorphic adenoma.

Use of Machine Learning-Based Software for the Screening of Thyroid Cytopathology Whole Slide Images.

The use of whole slide images (WSIs) in diagnostic pathology presents special challenges for the cytopathologist. Informative areas on a direct smear from a thyroid fine-needle aspiration biopsy (FNAB) smear may be spread across a large area comprising blood and dead space. Manually navigating through these areas makes screening and evaluation of FNA smears on a digital platform time-consuming and laborious. We designed a machine learning algorithm that can identify regions of interest (ROIs) on thyroid fine-needle aspiration biopsy WSIs. To evaluate the ability of the machine learning algorithm and screening software to identify and screen for a subset of informative ROIs on a thyroid FNA WSI that can be used for final diagnosis. A representative slide from each of 109 consecutive thyroid fine-needle aspiration biopsies was scanned. A cytopathologist reviewed each WSI and recorded a diagnosis. The machine learning algorithm screened and selected a subset of 100 ROIs from each WSI to present as an image gallery to the same cytopathologist after a washout period of 117 days. Concordance between the diagnoses using WSIs and those using the machine learning algorithm-generated ROI image gallery was evaluated using pairwise weighted κ statistics. Almost perfect concordance was seen between the 2 methods with a κ score of 0.924. Our results show the potential of the screening software as an effective screening tool with the potential to reduce cytopathologist workloads.

Giant cell tumor of soft tissue: FNA cytopathology of 4 cases, review of the literature, and comparison with giant cell tumor of bone.

The cytopathology of a giant cell tumor of soft tissue (GCT-ST), a fibrohistiocytic neoplasm distinct from other giant cell-rich soft tissue tumors, is rarely reported. The authors report their experience with a series of 4 GCT-ST fine-needle aspiration (FNA) biopsy cases and compare them with a set from giant cell tumors of bone (GCTBs). The authors' cytopathology files were searched for GCT-ST examples with histopathologic confirmation. FNA biopsy smears were performed and examined with standard techniques. Four cases of GCT-ST presenting as a primary soft tissue mass from 4 patients (3 males and 1 female; age range, 28-75 years, mean age, 53 years) were retrieved. FNA sites included the anterior tibia, buttock, shoulder, and upper back. Three cases were interpreted as suspicious for sarcoma radiographically. The specific diagnoses were atypical giant cell tumor of tendon sheath, suspicious for GCT-ST, atypical myxoid lesion with giant cells, and benign with osteoclast-like giant cells (OLGCs). No case was interpreted as malignant. Aspirates consisted of mononuclear polygonal cells, spindled fibroblast cell clusters, and large OLGCs to the near exclusion of other cell types. OLGCs possessed 10 or more nuclei per cell. A comparison with GCTB aspirates and single case reports from the literature showed comparable cytomorphology. GCT-ST FNA smears mimic those of GCTBs containing a limited population of uniform spindle cell clusters, single dispersed polygonal cells, and cytologically banal OLGCs. GCT-ST should be considered in the differential diagnosis of aspirates containing numerous osteoclast-like giant cells.

Classic polymorphous adenocarcinoma: Fine needle aspiration cytopathology of eight cases.

The cytopathology and diagnostic accuracy of salivary gland (SG) polymorphous adenocarcinoma (PAC) is the subject of a limited number of reports. We undertook a review of our experience with fine needle aspiration (FNA) biopsy and PAC. A search was made of our cytopathology files for PAC cases that also had histopathological confirmation. FNA biopsy smears and cell-blocks were performed and examined using standard techniques. Eight FNA biopsy cases of histologically proven PAC from 7 patients [F:M=1.3:1, age 39-75years, mean=58] met study inclusion. Metastatic aspirates were most common (4), followed by 3 primary cases and 1 locally recurrent neoplasm. Primary FNA sites included hard palate (1 case), lip (1), and lateral tongue (1); all metastatic sites were in the neck. A precise cytologic diagnosis was made in 38% of cases; however, when applying the Milan classification system, 100% could be categorised as either malignant or of uncertain malignant potential. Ancillary immunohistochemical testing performed in 44% of the cases was non-specific. Cytologic smears showed cellular uniformity and structural variety of cell groups with tubular, branching, cribriform, and convex patterns as well as variable, but occasionally abundant globular myxoid stroma leading to confusion with adenoid cystic carcinoma. The imitative cytopathology of PAC with other SG neoplasms as well as its infrequency in routine FNA biopsy practice makes specific interpretation difficult, but using a classification system allows for appropriate patient management. Molecular testing in future specimens holds promise for enhancing diagnostic accuracy.

Cytopathology of solitary fibrous tumor: a series of 34 cases

Solitary fibrous tumor (SFT), a fibroblastic neoplasm characterized by a specific genetic alteration (NAB2-STAT6 fusion) and relatively specific immunohistochemical profile (STAT6/CD34 positivity), is seldom the subject of cytopathology data. We report our experience with scrape smears and fine-needle aspiration (FNA) biopsies of SFT in a large patient cohort. A search was made of our cytopathology and surgical pathology databases for cases diagnosed as solitary fibrous tumor (SFT). FNA biopsy smears, imprint smears, and cell blocks were performed and examined using standard technique. Thirty-four cases from 30 patients (M:F = 1.1:1; age range: 24-86 years, x = 58 years) met inclusion criteria for this study. All patients had prior or subsequent tissue confirmation of SFT. Twenty-seven (79%) specimens were FNAs, and 7 (21%) were scrape smears. Most cases (29, 85%) represented primary tumors, 4 (12%) were metastatic deposits, and 1 (3.5%) was a locally recurrent neoplasm. Sites included: pleura/lung 9 (26%), head/neck 8 (24%), lower extremity 7 (21%), trunk 4 (12%), intra-abdominal 3 (9%), upper extremity 2 (7%), and mediastinum 1 (4%). Mean tumor size was 7.2 cm (range: 1.5-19 cm). Three (9%) cases were diagnosed specifically as SFT. Remaining diagnoses were spindle cell neoplasm/proliferation 14 (41%), nondiagnostic 5 (15%), specific type of sarcoma 3 (9%), malignant round cell tumor 2 (6%), sarcoma 2 (6%), malignant tumor 2 (6%) and single cases of melanoma, pleomorphic adenoma, and mesenchymal tumor. Immunohistochemical (IHC) testing was performed in 7 of 27 (26%) cell blocks. SFT FNA cytopathology is morphologically ambiguous, overlapping with a broad array of other spindle cell proliferations. A specific diagnosis is only possible with added staining of STAT6 coupled with a set of other IHC markers.

Cytopathology of myxoinflammatory fibroblastic sarcoma: a series of eight cases and review of the literature

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare low-grade sarcoma presenting as a slow-growing mass that occurs mainly in the distal extremities of adults. Relatively little is known about the cytopathology of MIFS. We evaluated cytologic characteristics of MIFS on fine-needle aspiration (FNA). A search was made of our cytopathology and surgical pathology databases for cases diagnosed as MIFS. FNA biopsy smears and cell-block were performed and examined using standard technique. Eight cases were retrieved from patients aged 22-90 years (mean, 56 years), and M:F ratio of 1:1. Six tumors (75%) were primary, and 2 (25%) locally recurrent. Distal lower limb was involved in all but one case (88%). One (13%) recurrent case was correctly diagnosed cytologically as MIFS; remaining single diagnoses were varied: myxofibrosarcoma, low-grade sarcoma, malignant neoplasm, myxoid neoplasm, atypical fibrohistiocytic neoplasm, atypical cells with chronic inflammation, and spindle cells with atypia. Among 7 cases with available cytologic slides for review, common features were spindle cells with variable atypia (100%), rare virocyte/Reed-Sternberg -like cells (86%), background mixed inflammation (71%), and variable myxoid stroma (57%). Pseudolipoblasts and multinucleated giant cells were rare. Hemosiderin and branching capillaries were largely absent. Immunohistochemistry was non-specific. MIFS was accurately interpreted in only 13% of cases; remaining cases were diagnosed as atypical or malignant, which would lead to proper management. A specific cytologic diagnosis of MIFS using FNA is extremely difficult in our experience due to an absence of distinctive cytomorphology and specific immunophenotype.

Cytopathology of classic type epithelioid sarcoma: a series of 20 cases and review of the literature

As a rare soft tissue malignancy, epithelioid sarcoma (EpS) is infrequently subjected to cytopathologic analysis. With the exception of a few series, the cytology literature regarding EpS is largely limited to single case reports. Our purpose was to evaluate our experience with EpS, and review the literature regarding its cytopathology. A search was made of our cytopathology and surgical pathology databases for cases diagnosed as EpS. Fine-needle aspiration biopsy smears and imprint smears were performed and examined using standard technique. Effusion samples were processed using liquid-based slides. Twenty cases of EpS were retrieved from 10 patients (M:F 1:1; mean age = 36 years). One patient had 5, 1 patient had 3, and 3 patients had 2 separate specimens. All patients had prior or subsequent tissue confirmation of EpS; all were of the classic/distal type. Seven were new patient cases, 7 were locally recurrent, and 6 were metastases. Sites included lower extremity (8 cases), upper extremity (4), trunk (4), serous effusion (2), scalp (1), and mediastinum (1). Specific cytologic diagnosis were EpS (13 cases), sarcoma not otherwise specified (5), and malignant neoplasm (2). All cases where cell-block SMARCB-1 staining was used were specifically recognized as EpS. Cytomorphology was composed primarily of epithelioid/plasmacytoid cells having eccentrically positioned nuclei, moderate cytoplasm, and variable nuclear pleomorphism. The cytopathology of EpS is somewhat variable, morphologically non-specific, and mimics that of other neoplasms with epithelioid features. Ancillary immunostaining is necessary for a specific diagnosis in newly encountered patients.

Cytopathology of Xp11 translocation renal cell carcinoma: a report of 5 cases

Xp11.2 translocation-associated RCC (Xp11RCC) defined by molecular alterations involving TFE3 genetic rearrangements constitutes a large percentage of primary renal neoplasms in children, but less than 4% of adult cases. Fewer than 10 single case reports constitute the English cytopathology literature regarding this neoplasm. Our objective is to describe and illustrate the cytopathology of this uncommon renal neoplasm from a series of 5 cases using cytologic imprints, effusion specimens, and fine-needle aspiration (FNA) cytology. Review was made of our cytopathology and surgical pathology databases. FNA biopsy smears and imprint smears were performed using a standard technique. Effusion samples were processed using liquid-based slides. Five cytologic specimens from 4 patients with histopathologically confirmed Xp11RCC were identified (mean age: 36 years) over a period of 7 years. All cases contained large cells with voluminous amounts of vacuolated cytoplasm arranged in non-descript clusters and as single forms. A "tigroid" pattern consisting of linear strips of detached cytoplasm was seen in both imprint smear cases and the single FNA case. Psammomatous calcifications, true papillary structures, and hyaline globules were absent in all cases. Four examples were diagnosed as Xp11RCC, but 3 represented metastatic disease, and 1 was diagnosed using both cytology and core needle tissue histopathology. The remaining case was diagnosed nonspecifically as a clear cell malignant neoplasm. The cytopathologic features of Xp1RCC are relatively nonspecific, and overlap with other renal cell carcinoma subtypes. A definitive diagnosis is only possible with ancillary immunohistochemistry with or without additional TFE3 fluorescence in situ hybridization.

A case-based approach to aggressive variants of papillary thyroid carcinoma with literature review

Papillary thyroid caarcinoma (PTC) is the most common thyroid and endocrine malignancy. Although considered to be indolent, aggressive variants have been identified, including the Tall Cell (TCV), Columnar Cell (CCV), Hobnail (HPTC) and Solid Variants (SVPTC). The objective of this study is to pre-operatively recognize the cytologic features of these variants. Four cases with final diagnoses of TCV, CCV, HPTC and SVPTC were reviewed and compared with Fine Needle Aspiration Biopsy (FNAB) smears. The first case is a 44-year-old female diagnosed with TCV pre-operatively through FNAB and was confirmed through tissue biopsy showing malignant glands in papillary formation with greater than 50% of tall cells. The second patient is a 54-year-old female with CCV showing stratified columnar cells with cytoplasmic supranuclear and subnuclear vacuoles. Third is a 57-year-old female with HPTC exhibiting eccentrically-located nuclei imparting a hobnail appearance with cellular dyscohesiveness. The fourth case is a 59-year-old female diagnosed with SVPTC showing predominantly solid sheets surrounded by thin, delicate fibrous stroma. They all have nuclear features of PTC. TCV, CCV, HPTC and SVPTC are related to extrathyroidal extension, angiolymphatic invasion, positive surgical margin and lymph node metastasis. FNAB is an important tool to recognize these variants preoperatively and plan for amore comprehensive management.

Efficacy of an Intensive, Ultrasound-Guided Fine-Needle Aspiration Biopsy Training Workshop in Tanzania.

BackgroundFine-needle aspiration biopsy (FNAB) is a minimally invasive, cost-effective diagnostic tool that can be used in low-resource settings. However, adequacy and accuracy of FNAB is highly dependent on the skills of the operator and requires specialized training. Poor technique can preclude definitive diagnoses because of insufficient quality or quantity of FNAB samples. We evaluated the efficacy of an intensive training experience in Tanzania on improving ultrasound-guided FNAB techniques.MethodsA 2-day workshop offered didactic lectures, demonstrations, and hands-on practicum on fundamentals of ultrasound imaging and FNAB technique. A prospective interventional study design was used with pre- and postintervention surveys and assessments to measure the effect of the workshop on specific skills related to slide smearing and ultrasound-guidance among participants.ResultsTwenty-six pathologists and radiologists, including trainees in each specialty, participated in the workshop. Pre- and postworkshop assessments demonstrated that most participants improved significantly in nearly all technical skills for slide smearing and ultrasound-guided FNAB. After the workshop, most participants demonstrated substantial improvements in ability to prepare the ultrasound equipment, measure the lesion in three dimensions by ultrasound, target lesions in one pass using both parallel and perpendicular approaches, and prepare high-quality aspirate smears.ConclusionAn in-country 2-day workshop in Tanzania was efficacious in transferring basic skills in FNAB smear preparation and ultrasound-guided FNAB, resulting in skills enhancement among participating pathologists and radiologists. Although mastery of skills was not the goal of this short workshop, participants demonstrated proficiency in most technical elements after workshop completion, and the workshop generated interest among select participants to pursue additional intensive training in cytopathology.

Immune gene expression and response to chemotherapy in advanced breast cancer

Background:Transcriptomic profiles have shown promise as predictors of response to neoadjuvant chemotherapy in breast cancer (BC). This study aimed to explore their predictive value in the advanced BC (ABC) setting.Methods:In a Phase 3 trial of first-line chemotherapy in ABC, a fine needle aspiration biopsy (FNAB) was obtained at baseline. Intrinsic molecular subtypes and gene modules related to immune response, proliferation, oestrogen receptor (ER) signalling and recurring genetic alterations were analysed for association with objective response to chemotherapy. Gene-set enrichment analysis (GSEA) of responders vs non-responders was performed independently. Lymphocytes were enumerated in FNAB smears and the absolute abundance of immune cell types was calculated using the Microenvironment Cell Populations counter method.Results:Gene expression data were available for 109 patients. Objective response to chemotherapy was statistically significantly associated with an immune module score (odds ratio (OR)=1.62; 95% confidence interval (CI), 1.03–2.64; P=0.04). Subgroup analysis showed that this association was restricted to patients with ER-positive or luminal tumours (OR=3.54; 95%, 1.43–10.86; P=0.012 and P for interaction=0.04). Gene-set enrichment analysis confirmed that in these subgroups, immune-related gene sets were enriched in responders.Conclusions:Immune-related transcriptional signatures may predict response to chemotherapy in ER-positive and luminal ABC.