RESUMO
AIMS: Urothelial carcinoma (UC) demonstrates significant molecular and histologic heterogeneity. The WHO 2022 classification has hinted at adding molecular signatures to the morphologic diagnosis. As morphology and associated molecular repertoire may potentially translate to choices of and response to therapy and relapse rate, broader acceptability of recognizing these key features among uropathologists is needed. This prompted an international survey to ascertain the practice patterns in classical/subtype UC among uropathologists across the globe. METHODS AND RESULTS: A survey instrument was shared among 98 uropathologists using SurveyMonkey software. Anonymized respondent data were analysed. The response rate was 85%. A majority were in concordance with the profiles of luminal (93%) and basal (82%) types. Opinion on the FGFR3 testing platform was variable. While 95% concurred that TERT promoter mutation is the key driver in UC, 72% had the opinion that APOBEC mutagenesis is the main signature in muscle invasive bladder cancer (MIBC). Uropathologists have divergent opinions on MIBC and ERCC2 mutations. Among the participants, 94% would quantify aggressive micropapillary and sarcomatoid histology, while 88% would reevaluate another transurethral resection of the bladder tumour specimen in nonmuscle invasive tumour with micropapillary, small cell, or sarcomatoid histology. A leading number agreed to specific molecular signatures of micropapillary (93%), plasmacytoid (97%), and small cell (86%) subtypes. Ninety-six percent of participants agreed that a small-cell component portends a more aggressive course and should be treated with neoadjuvant chemotherapy and 63% would perform HER2/neu testing only on oncologist's request in advanced tumours. Ninety percent agreed that microsatellite instability testing, although not a standard protocol, should be considered in young patients with upper tract UC. Eighty-six percent agreed that UC with high tumour mutational burden would be a better candidate for immunotherapy. CONCLUSION: In the era of precision medicine, enhanced understanding of molecular heterogeneity of UC will contribute to better therapeutic options, novel biomarker discovery, innovative management protocols, and outcomes. Our survey provides a broad perspective of pathologists' perceptions and experience regarding incorporation of histomolecular approaches to "personalize" therapy. Due to variable clinical adoption, there is a need for additional data using uniform study criteria. This will drive generation of best practice guidelines in this area for widespread and consistent clinical utility.
RESUMO
Accurate diagnosis of neuroblastoma may be challenging, especially with limited or inadequate specimen and at the metastatic sites due to overlapping imaging, histopathologic, and immunohistochemical (immunohistochemistry [IHC]; infidelity among various lineage-associated transcription factors eg FLI1, transducin-like enhancer 1, etc) features. GATA3 and ISL1 have recently been described as markers of neuroblastic differentiation. This study aims at determining the diagnostic utility of GATA3 and ISL1 in differentiating neuroblastoma from other pediatric malignant small round blue cell tumors.We evaluated GATA3 and ISL1 expression in 74 pediatric small round blue cell tumors that included 23 NMYC-amplified neuroblastomas, 11 EWSR1-rearranged round cell sarcomas, 7 SYT::SSX1-rearranged synovial sarcomas, 5 embryonal rhabdomyosarcomas, 10 Wilms tumors (nephroblastomas), 7 lymphoblastic lymphoma, 7 medulloblastoma, and 4 desmoplastic small round cell tumor.All 23 neuroblastomas (moderate to strong staining in >50% of the tumor cells), 5â T-lymphoblastic lymphomas (moderate to strong staining in 40%-90% of the tumor cells), and 2 desmoplastic small round cell tumors (weak to moderate staining in 20%-30% of the tumor cells) expressed GATA3, while other tumors were negative. ISL1 immunoreactivity was observed in 22 (96%) neuroblastomas (strong staining in in >50% of the tumor cells, n = 17; moderate to strong staining in 26%-50% of the tumor cells, n = 5), 3 embryonal rhabdomyosarcoma (moderate to strong staining in 30%-85% of the tumor cells), 1 synovial sarcoma (weak staining in 20% of the tumor cells), and 7 medulloblastoma (strong staining in 60%-90% of the tumor cells). Other tumors were negative. Overall, GATA3 showed 86% specificity, 100% sensitivity, and 90% accuracy for neuroblastoma, with a positive predictive value (PPV) and negative predictive value (NPV) of 77% and 100%, respectively. ISLI showed 72% specificity, 96% sensitivity, and 81% accuracy for neuroblastoma, with a PPV and NPV of 67% and 97%, respectively. After the exclusion of T-lymphoblastic lymphoma and desmoplastic small round cell tumors, GATA3 had 100% specificity, sensitivity, accuracy, and PPV and NPV for neuroblastoma. Similarly, in pediatric small round blue cell tumors, ISL1 had 100% specificity, sensitivity, accuracy, PPV, and NPV for neuroblastoma, after embryonal rhabdomyosarcoma, synovial sarcoma, and medulloblastoma were excluded. CONCLUSIONS: GATA3 and ISL1 may be valuable in the diagnostic work-up of neuroblastoma and may reliably be used to support the neuroblastic lineage of pediatric small round blue cell tumors. Furthermore, dual positivity helps in challenging scenarios, when there is equivocal imaging, overlapping IHC features, limited specimen, and the lack of facility for a molecular work up.
Assuntos
Neoplasias Cerebelares , Neoplasias Renais , Meduloblastoma , Neuroblastoma , Leucemia-Linfoma Linfoblástico de Células Precursoras , Rabdomiossarcoma Embrionário , Sarcoma Sinovial , Tumor de Wilms , Humanos , Criança , Sarcoma Sinovial/diagnóstico , Sarcoma Sinovial/genética , Neuroblastoma/diagnóstico , Tumor de Wilms/diagnóstico , Neoplasias Renais/diagnóstico , Neoplasias Renais/genética , Biomarcadores Tumorais , Diagnóstico Diferencial , Fator de Transcrição GATA3RESUMO
Solitary fibrous tumor (SFT) is a rare mesenchymal neoplasm known to occur at various soft tissue and visceral locations. Kidney is a rarely reported site for these tumors. Most of the SFTs described in the kidney exhibit a classical CD34-positive patternless spindle cell histology. Focal round cell morphology is seldom reported. Herein, we describe a 48-year-old male patient with renal SFT. This tumor had pure round cell morphology with a CD34-/STAT6+ immunophenotype. Fluorescent in situ hybridization and a multiplexed sequencing assay performed on an Illumina® HiSeq 4000 platform revealed NAB2 and STAT6 gene rearrangement. Renal tumors with round cell morphology are diagnostically challenging and SFT is not often considered in the differential diagnosis of a round cell tumor of the kidney. Moreover, a CD34-negative profile can be rather confounding while diagnosing such lesions. In such scenarios, a strong nuclear STAT6 immunostaining is extremely helpful in clinching the diagnosis. SFT should always be considered in the differential diagnosis of round cell tumors of the kidney due to significant diagnostic and therapeutic implications.
RESUMO
BACKGROUND: Giant Cell Tumour of Tendon Sheath (GCTTS) is a slow growing benign soft tissue tumour arising from synovium of tendon sheath or joint. These tumours occur more frequently in upper limbs, especially hands. In the present study, we aimed to evaluate the cytomorphological spectrum of GCTTS. METHODS: This retrospective study includes a total of 56 cases of GCTTS diagnosed over a period of 8 years. The clinical and radiological details of these cases were retrieved from the cytopathology records and detailed cytomorphological features were studied and analysed. Histopathological correlation was done in 16/56 cases, where follow-up was available. RESULTS: The mean age of patients at the time of presentation was 32 years and were predominantly females (68%). The most common site of GCTTS was fingers (76%), followed by foot, wrist and toes. The most consistent finding on cytology was stromal cells (100%) of polygonal, spindle and plasmacytoid morphology with interspersed multinucleated osteoclastic giant cells (100%), followed by binucleated stromal cells (75%), xanthoma cells (61%) and hemosiderin laden macrophages (52%). Presence of proteinaceous fluid background was also observed in 50% of the cases. CONCLUSION: GCTTS can be diagnosed with certainty on FNAC based on characteristic cytomorphological features in an appropriate clinical and radiological setting. FNAC plays a pivotal role in diagnosing GCTTS and differentiating it from other giant cell rich lesions, thus obviating the need of tissue biopsy for diagnosis, which in turn helps the clinician in timely and adequate management of the patient.
Assuntos
Tumor de Células Gigantes de Bainha Tendinosa , Tumores de Células Gigantes , Feminino , Humanos , Adulto , Masculino , Tendões/patologia , Estudos Retrospectivos , Tumores de Células Gigantes/patologia , Tumor de Células Gigantes de Bainha Tendinosa/patologia , Células Gigantes/patologiaRESUMO
Breast carcinoma is now the most common cancer in the world. In view of its high mortality, there is a need to identify new prognostic biomarkers. Both IMP3 and SLUG have been implicated in cancer metastasis. This was a retrospective study conducted on 60 breast carcinoma cases using tissue microarrays. Demographic and clinicopathological details were recorded. Immunohistochemistry for IMP3 and SLUG was performed and evaluated in terms of percentage-cell-positivity and intensity of staining. A proforma was used to store data and was analyzed using SPSS v20. IMP3 positivity was found in 87% breast carcinoma cases and was significantly associated with tumor size (p = 0.03) and TNM stage (p = 0.024). IMP3 staining intensity showed significant association with histological grade (p = 0.009), TNM stage (p = 0.036), and molecular subtype (p = 0.03). SLUG immunoexpression was seen in 90% breast carcinoma cases and was significantly associated with TNM stage (p = 0.006). SLUG staining intensity was significantly associated with age (p = 0.025) and TNM stage (p = 0.004). IMP3 and SLUG immunopositivity and their staining intensities were significantly associated (p <0.001, p <0.001). IMP3 and SLUG percentage cell positivities were also significantly correlated (p <0.001). IMP3 and SLUG are, thus, poor prognostic markers with a role in tumor invasiveness and aggressiveness via epithelial-mesenchymal transition. Hence, IMP3 and SLUG-based targeted therapies may be useful in the treatment of breast carcinoma.
RESUMO
Introduction: The deposition of calcium in the skin is known as calcinosis cutis. It can affect any part of the body and can mimic soft tissue or bony lesions clinically. Aim: To describe the clinical and cytomorphologic features of calcinosis cutis on fine needle aspiration cytology smears. Materials and Methods: A total of 17 cases reported as calcinosis cutis on fine needle aspiration cytology were reviewed for the available clinical and cytological details. Results: The cohort included both adult and pediatric patients. Clinically, the lesions appeared as painless swellings of variable sizes. The common sites affected were the scrotum, iliac region, scalp, pinna, neck, axilla, elbow, arm, thigh, and gluteal region. Aspirate was chalky white, paste-like in all the cases. The cytologic evaluation revealed amorphous crystalline deposits of calcium along with histiocytes, lymphocytes, and multinucleated giant cells. Conclusions: Calcinosis cutis has a wide spectrum of clinical presentations. Fine needle aspiration cytology is a minimally invasive approach for diagnosing calcinosis cutis, thus eliminating the need for more extensive biopsy procedures.
RESUMO
Objective: This study was conducted to evaluate the frequency and clinicopathologic correlates of human epidermal growth factor receptor 2 (HER-2)/neu and betacatenin (BC) oncoproteins in gastric adenocarcinoma and to seek correlation if any between their expression status. Materials and Methods: This cross-sectional analytical immunohistochemistry (IHC) study was performed on 50 cases of gastric adenocarcinoma. HER-2/neu immunoexpression was scored as per criteria by Ruschoff et al. as positive (3+), equivocal (2+), and negative (1+, 0). Aberrant BC expression was categorized as nuclear, cytoplasmic, and reduced membranous immunoexpression. Protein expression results of both oncoproteins were correlated with conventional clinicopathological parameters. Correlation between immunoexpression profiles of both proteins was also analyzed. P <0.05 was considered statistically significant. Results: HER-2/neu positivity (2 + and 3+) was seen in 94% of the cases; almost 60% had strong (3+) expression. All cases showed aberrant BC immunoexpression (any pattern) except 2 cases that revealed negative expression (a form of aberrant immunoexpression) and were removed from analysis due to a very small number. The pattern of BC expression was as follows: nuclear expression (38%), cytoplasmic expression (82%), reduced membranous expression (96%), no staining (4%) cases. HER-2/neu expression correlated with age. No significant correlation was found between any of the 2 oncoprotein immunoexpression and other clinicopathological parameters (P > 0.05). Concordance between protein expression of HER-2/neu and BC was seen in >93% cases, however, the correlation was not significant. Conclusion: HER-2/neu and BC oncoprotein expression are frequently dysregulated in gastric adenocarcinomas. The significance of pathways involving HER-2/neu and BC in gastric carcinogenesis should be explored.
Assuntos
Adenocarcinoma , Neoplasias Gástricas , Humanos , Estudos Transversais , Receptor ErbB-2/genética , Receptor ErbB-2/metabolismo , Adenocarcinoma/patologia , Neoplasias Gástricas/patologia , Imuno-HistoquímicaRESUMO
Background. Neuroendocrine differentiation in the prostate gland ranges from clinically insignificant neuroendocrine differentiation detected with markers in an otherwise conventional prostatic adenocarcinoma to a lethal high-grade small/large cell neuroendocrine carcinoma. The concept of neuroendocrine differentiation in prostatic adenocarcinoma has gained considerable importance due to its prognostic and therapeutic ramifications and pathologists play a pivotal role in its recognition. However, its awareness, reporting, and resource utilization practice patterns among pathologists are largely unknown. Methods. Representative examples of different spectrums of neuroendocrine differentiation along with a detailed questionnaire were shared among 39 urologic pathologists using the survey monkey software. Participants were specifically questioned about the use and awareness of the 2016 WHO classification of neuroendocrine tumors of the prostate, understanding of the clinical significance of each entity, and use of different immunohistochemical (IHC) markers. De-identified respondent data were analyzed. Results. A vast majority (90%) of the participants utilize IHC markers to confirm the diagnosis of small cell neuroendocrine carcinoma. A majority (87%) of the respondents were in agreement regarding the utilization of type of IHC markers for small cell neuroendocrine carcinoma for which 85% of the pathologists agreed that determination of the site of origin of a high-grade neuroendocrine carcinoma is not critical, as these are treated similarly. In the setting of mixed carcinomas, 62% of respondents indicated that they provide quantification and grading of the acinar component. There were varied responses regarding the prognostic implication of focal neuroendocrine cells in an otherwise conventional acinar adenocarcinoma and for Paneth cell-like differentiation. The classification of large cell neuroendocrine carcinoma was highly varied, with only 38% agreement in the illustrated case. Finally, despite the recommendation not to perform neuroendocrine markers in the absence of morphologic evidence of neuroendocrine differentiation, 62% would routinely utilize IHC in the work-up of a Gleason score 5 + 5 = 10 acinar adenocarcinoma and its differentiation from high-grade neuroendocrine carcinoma. Conclusion. There is a disparity in the practice utilization patterns among the urologic pathologists with regard to diagnosing high-grade neuroendocrine carcinoma and in understanding the clinical significance of focal neuroendocrine cells in an otherwise conventional acinar adenocarcinoma and Paneth cell-like neuroendocrine differentiation. There seems to have a trend towards overutilization of IHC to determine neuroendocrine differentiation in the absence of neuroendocrine features on morphology. The survey results suggest a need for further refinement and development of standardized guidelines for the classification and reporting of neuroendocrine differentiation in the prostate gland.
Assuntos
Carcinoma de Células Acinares , Carcinoma de Células Grandes , Carcinoma Neuroendócrino , Carcinoma de Células Pequenas , Tumores Neuroendócrinos , Neoplasias da Próstata , Masculino , Humanos , Próstata/patologia , Tumores Neuroendócrinos/diagnóstico , Tumores Neuroendócrinos/patologia , Patologistas , Neoplasias da Próstata/diagnóstico , Neoplasias da Próstata/patologia , Carcinoma Neuroendócrino/patologia , Carcinoma de Células Pequenas/patologia , Carcinoma de Células Acinares/patologia , Carcinoma de Células Grandes/patologia , Inquéritos e QuestionáriosRESUMO
Clear cell variant of squamous cell carcinoma (SCC) is an extremely rare neoplasm. Here, we report a case of clear cell variant of SCC which presented as an eyelid nodule. A 56-year-old male presented with a painless, small, pedunculated nodule in the left upper eyelid. On microscopic evaluation, tumor cells were arranged in nests and lobules with few foci of necrosis. Tumor cells were polygonal in shape, having abundant clear and vacuolated cytoplasm with peripherally pushed hyperchromatic nuclei. Two main differential diagnoses considered were sebaceous carcinoma and clear cell variant of SCC. On immunohistochemistry, tumors cells were negative for androgen receptor. A final diagnosis of clear cell variant of SCC was made. In a malignant eyelid tumor with clear cell morphology, a differential diagnosis of clear cell variant of SCC should be kept in mind before making a diagnosis of sebaceous carcinoma because sebaceous carcinoma possesses a poorer prognosis.
RESUMO
Background: Akin to cervical squamous intra-epithelial neoplasia (CIN), anal squamous intra-epithelial lesion (a-SIL) is attributed to persistent infection with high-risk human papilloma virus infection. Amplification of human telomerase reverse transcriptase (hTERT) gene and aneuploidy are known to correlate with CIN evolution. It is plausible that the underlying genetic events in a-SIL are similar. We conducted this cross-sectional analytical study with the objective of determining expression of hTERT gene expression and chromosome 7, as marker of cell ploidy in a-SIL. Methods: Conventional anal cytology was performed in 86 adult consenting subjects with history of receptive anal intercourse (RAI) and 4 controls without history of RAI. Cases with a-SIL and controls were subjected to fluorescent in-situ hybridization (FISH) to evaluate hTERT gene and chromosome 7 expression, as marker of cell ploidy. Results were expressed as number of abnormal nuclei (≥3 respective signals), maximum degree of amplification, mean signals/nucleus and proportion of cases showing abnormal nuclei. Results: Twenty cases showed a-SIL; with 15 atypical squamous cells of undetermined significance (ASCUS), 3 low grade squamous intra-epithelial lesion (LSIL) and 2 cases of high-risk cytology. Expression of both hTERT gene and chromosome 7 increased from controls to ASCUS to LSIL with concomitant increase in proportion of cases having abnormal hTERT gene and chromosome 7 expression. Conclusions: Positive association of hTERT gene with a-SIL suggests its possible role in evolution of anal squamous abnormalities. Increase in chromosome 7 also correlated positively with a-SIL. These findings corroborate the similarities between squamous carcinogenesis in CIN and a-SIL.
RESUMO
Amyloidosis is a complex multisystem disorder characterized by deposition of an aberrant protein in tissues and results in disruption of the normal organ function. Localized amyloidosis is a rare disorder. It commonly affects the head-and-neck region, and only 4% of these lesions are encountered in the orbital region. Hence, conjunctival amyloidosis is a very rare entity. It is thought to be a manifestation of local immunologic disorders. Amyloidosis of conjunctiva is more often localized with no other systemic features. Here, we present two cases of unilateral conjunctival amyloidosis, one with extensive calcification. Conjunctival amyloidosis must be considered in the differential diagnosis of conjunctival neoplasms. Histopathological examination and apple-green birefringence on polarized microscopy with Congo red stain remain the gold standard for diagnosing this entity.
RESUMO
Erythematous tender cutaneous lesions developed in a 10-year-old child of acute leukemia receiving oral methotrexate and 6-mercaptopurine during maintenance phase of chemotherapy. She was also found to have coagulopathy and transaminitis. Differential clinical diagnosis included infectious processes, pyoderma gangrenosum, connective tissue disorders like rheumatoid neutrophilic dermatitis, and drug-induced side effects. Oral methotrexate was withheld following which the lesions subsided. Skin biopsy revealed a diagnosis of leukocytoclastic vasculitis. Cutaneous vasculitis is a rare side effect of methotrexate and its possibility should be considered in any patient who develops skin lesions while being receiving chemotherapy.
RESUMO
BACKGROUND: Indeterminate thyroid lesions have always been a grey zone in the field of thyroid cytopathology. Immunocytochemistry (ICC) has emerged as a promising tool to correctly classify these indeterminate thyroid lesions into benign and malignant. Hence we planned to assess a panel of immune markers in the diagnosis of indeterminate thyroid lesions consisting of Galectin-3, considered positive for malignancy and CD117 which is positive in benign follicular epithelial cells and negative in malignant lesions. METHODS: All the thyroid aspirates reported as indeterminate lesions over a period of 3 years were evaluated. Galectin-3 and CD117 immunocytochemistry was done in 50 alcohol fixed Pap stained smears of AUS/FLUS, FN/SFN and SM category lesions. The expression of both immune markers was assessed by semi-quantitative method and ICC score was calculated. RESULT: Of 50 indeterminate lesions, 29 were positive for Galectin-3 and 21 were negative. CD117 was positive in 19 cases and rests 31 were negative. With the use of this ICC panel 29/30 indeterminate lesions in which histopathological correlation was available could be recategorized correctly into benign and malignant. The combined sensitivity and specificity of Galectin-3 and CD117 for categorising the indeterminate lesions into malignant category was 100%. CONCLUSION: The combined use of positive and negative immune markers for thyroid malignancy increases the sensitivity and specificity of ICC to categorise the indeterminate thyroid lesions into benign and malignant. In cases with discordant ICC results we propose that inclusion of one additional positive and/or negative marker may resolve the diagnostic dilemma.
Assuntos
Galectina 3/metabolismo , Proteínas Proto-Oncogênicas c-kit/metabolismo , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/metabolismo , Adolescente , Adulto , Idoso , Células Epiteliais/metabolismo , Células Epiteliais/patologia , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Neoplasias da Glândula Tireoide/patologia , Adulto JovemRESUMO
We present the case of an adolescent with an intramuscular ancient schwannoma of the axillary nerve which, to the best of our knowledge, has not been reported before. Due to its deep location, intramuscular schwannoma has less clinical signs and hence, is difficult to diagnose. Ancient schwannoma, characterised by degeneration due to long course, is rare and can be mistaken for malignancy due to heterogeneous intensity and degeneration evident on MRI and nuclear atypia on histopathology. It is important to differentiate it from malignancy based on a clinically benign swelling with a long history, well-encapsulated mass on MRI with the split fat sign and absence of significant mitotic activity despite nuclear atypia. The aim of surgery should be enucleation of the tumour while preserving the function of the parent nerve.
Assuntos
Neurilemoma , Doenças da Língua , Adolescente , Humanos , Imageamento por Ressonância Magnética , Neurilemoma/diagnóstico por imagem , Neurilemoma/cirurgiaRESUMO
OBJECTIVE: Cervical cancer screening by primary human papilloma virus detection and cytology is fraught with low specificity and variable sensitivity, respectively. Cytology-histology correlation remains modest. Biomarkers associated with early genetic events in cervical squamous carcinogenesis and detectable in cytology material are likely to be relevant. Human telomerase RNA component (hTERC) gene overexpression and aneuploidy are promising candidates in view of their reported early and consistent association with cervical squamous oncogenesis. METHODS: We analysed hTERC gene expression and chromosome 7 ploidy by fluorescent in-situ hybridisation (FISH) in 50 women with cytological precursor squamous intraepithelial lesions and available histology outcomes. Results were expressed as percentages of cells showing ≥3 signals, mean signals/nucleus, and maximum amplitude across various cytology and histology categories. Proportions of positive cases were calculated from threshold values derived from 6 controls. Distribution of above indices with respect to ≥cervical intraepithelial neoplasia 2 (CIN2) was explored. RESULTS: For both genetic aberrations, there was significant positive correlation (for all indices) between the proportion of positive cases and worsening cytological and histological outcomes (P < .05), with significant intergroup differences (P < .05). High-grade lesions (≥CIN2) had significantly higher results compared to Assuntos
Cromossomos Humanos Par 7/genética
, Expressão Gênica/genética
, RNA/genética
, Telomerase/genética
, Displasia do Colo do Útero/genética
, Displasia do Colo do Útero/patologia
, Neoplasias do Colo do Útero/genética
, Neoplasias do Colo do Útero/patologia
, Adulto
, Idoso
, Alphapapillomavirus/patogenicidade
, Colo do Útero/patologia
, Colo do Útero/virologia
, Citodiagnóstico/métodos
, DNA Viral/genética
, Detecção Precoce de Câncer/métodos
, Feminino
, Humanos
, Pessoa de Meia-Idade
, Infecções por Papillomavirus/diagnóstico
, Infecções por Papillomavirus/genética
, Infecções por Papillomavirus/patologia
, Ploidias
, Neoplasias do Colo do Útero/diagnóstico
, Adulto Jovem
, Displasia do Colo do Útero/diagnóstico
RESUMO
Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhan cell histiocytic disorder, which is mostly confined to skin of head and neck. It is a self-limiting benign condition, which does not require surgery. We present a case of 8-month-old girl child with multiple yellowish brown colored papules over scalp, face, and neck. A clinical diagnosis of cutaneous mastocytosis was made. Fine-needle aspiration cytology (FNAC) smears showed foamy macrophages along with mixed inflammatory infiltrate and few touton giant cells. A diagnosis of JXG was rendered which was confirmed on histopathology and immunohistochemistry.Juvenile xanthogranuloma can be diagnosed on FNAC based on its characteristic cytologic features; however, it requires a high index of suspicion by cytopathologist. Cytological diagnosis of JXG can save the patient from unnecessary surgical biopsy or excision.
Assuntos
Pele/patologia , Xantogranuloma Juvenil/diagnóstico , Xantogranuloma Juvenil/patologia , Biópsia por Agulha Fina , Feminino , Histiócitos/patologia , Humanos , Lactente , Pele/citologiaRESUMO
BACKGROUND: Fine needle aspiration cytology (FNAC) plays a pivotal role in evaluating salivary gland (SG) tumors. Several studies have shown diagnostic utility of MILAN system for reporting salivary gland cytopathology (MSRSGC) by examining risk of malignancy but only an occasional study has focused on interobserver variability. Hence, the present study was undertaken to assess the agreement among cytopathologists with varying experience in SG cytopathology using MSRSGC and to re-evaluate discordant cytohistological diagnoses for possible causes of misinterpretation. METHODS: All SG lesions subjected to FNAC over a period of 3½ years were studied. The cases were critically reviewed by 2 pathologists with variable experience in cytopathology using MSRSGC and concordance level among them was calculated. Cytohistological discordant diagnoses were reclassified and possible causes of misinterpretation during routine reporting were evaluated. RESULTS: Of 150 SG aspirates categorized according to MSRSGC, diagnostic disagreement between 2 pathologists was found in 10. Unweighted Cohen's Kappa score between consultant and resident was 0.812 (high). Among 55 cases with histological correlation, cytohistological discordance was seen in 12. True pitfalls constituted 50% of discordant cases while rest 50% were attributed to practical issues (turnaround time and heavy case load) during routine reporting. CONCLUSION: MSRSGC can be used with good reproducibility between observers with variable cytopathology experience. Heterogeneous nature of SG neoplasm is a known pitfall in FNA diagnosis of SG neoplasms. During routine reporting turnaround time, heavy case load and reporting by cytopathologists with variable experience add on to challenges faced in reporting cytopathology of SG neoplasm.
Assuntos
Citodiagnóstico/métodos , Implementação de Plano de Saúde , Relatório de Pesquisa , Glândulas Salivares/patologia , Biópsia por Agulha Fina , Humanos , Variações Dependentes do Observador , PatologistasRESUMO
Extraneural broad ligament ependymoma is a rare entity. Herein, we present a case of unusually large broad ligament ependymoma in a 32-year-old female with pain and lump in the lower abdomen. Contrast-enhanced computed tomography abdomen revealed multiple heterogeneously enhancing pelvic masses with lobulated surface in bilateral adnexa along with multiple peritoneal nodules. Her relevant serum tumor markers were unremarkable. Core biopsy revealed tumor composed of elongated cells arranged predominantly in true and pseudoperivascular rosettes. The histopathological differentials included ependymoma, primitive neuroectodermal tumor, and teratoma with neural differentiation. Results of immunohistochemistry favored the diagnosis of ependymoma. Surgical exploration and optimal cytoreduction were done, and a final diagnosis of primary broad ligament ependymoma with peritoneal metastasis was made. The patient received six cycles of adjuvant chemotherapy and is doing well after 8-month follow-up. The present case highlights the diagnostic workup and management of a rare and an unusually large broad ligament ependymoma with peritoneal metastasis.
Assuntos
Ligamento Largo/patologia , Ependimoma/diagnóstico , Adulto , Biomarcadores Tumorais , Biópsia , Ligamento Largo/cirurgia , Ependimoma/metabolismo , Ependimoma/cirurgia , Feminino , Humanos , Imuno-Histoquímica , Tomografia Computadorizada por Raios XRESUMO
Low-grade central osteosarcoma (LGCO) is a rare subtype of osteosarcoma, constituting < 2% of all osteosarcomas. If not treated appropriately, the tumor can recur with higher-grade disease. We report two cases of low-grade central osteosarcoma with unusual morphologic features and belonging to different age groups. Both presented with pain and swelling in the lower end of femur. Radiologically, both the lesions revealed a large mass with irregular borders and soft tissue invasion. One patient underwent above-knee amputation and wide local excision of tumor was done in the other patient. Histologically, both the tumors showed spindle cell proliferation displaying mild atypia. In synopsis with radiology, diagnosis of low-grade central osteosarcoma was made in both cases. These cases highlight the varied morphological spectrum of low-grade central osteosarcoma and underscore the diagnostic difficulties faced. Recognition of the variants of low-grade central osteosarcoma is based on aggressive radiological appearance and on adequate tumor sampling for histologic examination.