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Squamous cell carcinoma of the uterine cervix is the second most common malignancy in women worldwide. We describe an unusual telangiectatic variant of squamous cell carcinoma in a 53 yr old woman. The tumor showed the usual morphologic features of a poorly differentiated keratinizing squamous cell carcinoma with >75% tumor area showing cavernous hemangioma like ectatic spaces filled with blood. The blood-filled spaces lacked an endothelial lining as evidenced by negativity for CD31 and CD34. This unusual variant has not been reported previously. Awareness of this entity is necessary for avoiding confusion with vascular tumors such as hemangiomas and angiosarcoma.
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Carcinoma de Células Escamosas/patologia , Telangiectasia/patologia , Neoplasias do Colo do Útero/patologia , Biópsia , Carcinoma de Células Escamosas/irrigação sanguínea , Carcinoma de Células Escamosas/cirurgia , Feminino , Humanos , Histerectomia , Pessoa de Meia-Idade , Neoplasias do Colo do Útero/irrigação sanguínea , Neoplasias do Colo do Útero/cirurgiaRESUMO
OBJECTIVE: The role of tumour thickness (TT), depth of invasion (DOI) from two different reference points (TT2 and TT3), perineural invasion (PNI) and lymphovascular invasion (LVI) were evaluated to predict lymph node metastasis (LNM) in oral squamous cell carcinoma (OSCC). Reference points for measuring the DOI were suggested. MATERIAL AND METHODS: Paraffin-embedded tissues of excisional biopsy cases diagnosed as OSCC were sectioned and stained in haematoxylin and eosin to study variables like TT1, TT2, TT3, PNI and LVI. Out of total 150 cases collected for the study, 136, 123 and 149 cases were qualified for analysis of TT1, TT2 and TT3 respectively. The association with LNM was studied using chi square test of independence. A binary logistic regression model (BLC) was developed to indicate high-risk cases. RESULTS: Receiver operating curve analysis suggested an optimum cut-off value. A significant correlation of TT1 (> 8.64, RR = 1.642, p = 0.018) and TT2 (> 7.64, RR = 2.041, p = 0.016), PNI (p = 0.028) and LVI (p = 0.000) were found with LNM. A mathematical model was suggested as Z = - 1.866 + 0.101TT2 + 2.106VI + e, where Z = log [(p/(1 - p)] p = probability of the case experiencing the event of interest. CONCLUSION: With the suggestion of a standardised reference point to measure DOI for the first time, this study has shown an association of TT1, TT2, PNI and LVI with LNM in Indian Population. The mathematical model can help in identifying high-risk cases in OSCC. CLINICAL RELEVANCE: Such studies would offer avenues for the pre-surgery assessment of depth of invasion and tumour thickness before performing neck dissection, thereby decreasing morbidity.
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Neoplasias Bucais , Carcinoma de Células Escamosas , Humanos , Metástase Linfática , Invasividade Neoplásica , Estudos RetrospectivosRESUMO
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.
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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
OBJECTIVES: Penile squamous cell carcinomas (PCs) are rare malignancies with a dismal prognosis in a metastatic setting; therefore, novel immunotherapeutic modalities are an unmet need. One such modality is the immune checkpoint molecule programmed cell death ligand 1 (PD-L1). We sought to analyze PD-L1 expression and its correlation with various clinicopathologic parameters in a contemporary cohort of 134 patients with PC. METHODS: A cohort of 134 patients with PC was studied for PD-L1 immunohistochemistry. The PD-L1 expression was evaluated using a combined proportion score with a cutoff of 1 or higher to define positivity. The results were correlated with various clinicopathologic parameters. RESULTS: Overall, 77 (57%) patients had positive PD-L1 expression. Significantly high PD-L1 expression was observed in high-grade tumors (P = .006). We found that 37% of human papillomavirus (HPV)-associated subtypes and 73% of other histotype tumors expressed PD-L1, while 63% of HPV-associated tumors and 27% of other histotype tumors did not (odds ratio, 1.35; P = .002 when compared for HPV-associated groups vs all others). Similarly, PD-L1-positive tumors had a 3.61-times higher chance of being node positive than PD-L1-negative tumors (P = .0009). In addition, PD-L1 high-positive tumors had a 5-times higher chance of being p16ink4a negative than PD-L1 low-positive tumors (P = .004). The PD-L1-positive tumors had a lower overall survival and cancer-specific survival than PD-L1-negative tumors. CONCLUSIONS: Overall, PD-L1 expression is associated with high-grade and metastatic tumors. Lower PD-L1 expression is observed more frequently in HPV-associated (warty or basaloid) subtypes than in other, predominantly HPV-independent types. As a result, PD-L1 positivity, including higher expression, portends lower overall and cancer-specific survival. These data provide a rational for further investigating PD-L1-based immunotherapeutics in PC.
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Carcinoma de Células Escamosas , Infecções por Papillomavirus , Neoplasias Penianas , Masculino , Humanos , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/metabolismo , Antígeno B7-H1/metabolismo , Ligantes , Prognóstico , Carcinoma de Células Escamosas/patologia , Neoplasias Penianas/patologia , Apoptose , Biomarcadores Tumorais/metabolismoRESUMO
Introduction Accurate diagnosis of deep-seated abdominopelvic masses is crucial to distinguish malignant from non-malignant lesions for proper treatment and prognosis. Ultrasonography-guided fine needle aspiration cytology (USG-FNAC) is a cost-effective and straightforward procedure that offers rapid diagnosis, facilitating early initiation of treatment. This study aimed to determine the diagnostic accuracy of USG-FNAC in comparison to the biopsy diagnosis of various abdominopelvic masses in a resource-limited setting. Materials and methods This prospective study enrolled 208 patients with clinically and ultrasonographically confirmed abdominopelvic masses over two years. Of these, 64 cases were excluded from the study because of the non-availability of biopsy specimens. The remaining 144 cases comprised 88 males and 56 females, with a male-to-female ratio of 1.57:1. Patients' ages ranged from 1.5 to 65 years, with most male patients aged 51 to 60 years and female patients aged 41 to 50 years. USG-FNAC was performed on these patients using a 22G spinal needle and a 10cc disposable syringe, and no complications were reported during the procedure. The cytological findings were compared to histopathological results when available. Dry smears were stained with May-Grunwald-Giemsa stain, while fixed smears were stained with Papanicolaou stain for cytological investigation. Results A total of 144 cases had both cytological and histological specimens available for comparison. The overall diagnostic accuracy of USG-FNAC was 90.97%, with 91.8% sensitivity for malignant lesions, 83.33% for benign lesions, and 85.7% for inflammatory lesions. Conclusions USG-FNAC provides high diagnostic accuracy for abdominopelvic masses, making it a valuable diagnostic tool in resource-limited settings. The technique allows for rapid diagnosis, triaging specimens for ancillary immunohistochemical and molecular studies, and in many cases, obviates the need for more expensive and time-consuming procedures like laparotomy and open biopsy.
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OBJECTIVES: Solitary fibrous tumor (SFT) is a mesenchymal neoplasm that can arise at various anatomic locations. It is characterized by inv12(q13q13)-derived NAB2::STAT6 fusion, resulting in the nuclear expression of STAT6. Primary SFT of the adrenal gland is rare. We launched a multi-institutional collaboration to comprehend the overarching demographics, clinical and follow-up, macroscopic, microscopic, IHC, and FISH features of 9 patients with SFT of the adrenal gland. METHODS: We added a series of 9 patients to the collection of adrenal SFTs where the clinicopathologic parameters, including clinical presentation, imaging, histopathology, IHC, molecular profiles, and management and follow-up data, were analyzed comprehensively. A modified 4-variable risk stratification model, including age, tumor size, and necrosis, was applied. RESULTS: Our series consisted of 6 male and 3 female patients, ranging in age from 19 to 64 years (mean, 49.3 years). Abdominal pain (4) and fever with abdominal pain (1) were the presenting symptoms in 5 patients. In the remaining 4 patients, the tumors were detected by abdominal imaging for hypertension and diabetes. The size of the tumor ranged from 2 cm to 10.5 cm in maximum dimension. All tumors exhibited the morphology of a spindle cell SFT with a patternless architecture; 3 had a focal storiform arrangement. STAT6 positivity was observed in all tumors, and 7 were positive for CD34. Surgical resection was the primary modality of treatment. No adjuvant therapy was administered. Follow-up ranging from 7 months to 23 months was available for 7 patients. All were alive without disease recurrence or metastasis. Risk stratification placed 8 (88.9%) patients into a low-risk category and 1 into an intermediate-risk category. CONCLUSIONS: This series is the largest of adrenal SFTs to date. These tumors of the adrenal gland are predominantly spindle cell neoplasms with indolent behavior, with a wide age distribution and a slight male preponderance. Combining our cohort with the previously published cases, the majority of tumors fall into the low-risk category for the propensity to develop metastases. Owing to the rarity and age distribution associated with these tumors, the differential diagnosis is wide and requires a systematic approach for ruling out key differential diagnoses aided by STAT6 IHC.
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Neoplasias das Glândulas Suprarrenais , Febre Grave com Síndrome de Trombocitopenia , Tumores Fibrosos Solitários , Dor Abdominal , Neoplasias das Glândulas Suprarrenais/diagnóstico , Glândulas Suprarrenais/patologia , Adulto , Biomarcadores Tumorais/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/patologia , Proteínas Repressoras/metabolismo , Fator de Transcrição STAT6/genética , Tumores Fibrosos Solitários/diagnóstico , Tumores Fibrosos Solitários/patologia , Adulto JovemRESUMO
OBJECTIVES: To examine and compare human epidermal growth factor receptor 2 (HER2) amplification status in high-grade urothelial carcinoma (HGUCa), using both 2013 and 2018 HER2 reporting guidelines for breast carcinoma from the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP). METHODS: HER2 status by fluorescence in situ hybridization (FISH) assay in 78 cases of HGUCa was compared using 2013 and 2018 HER2 reporting guidelines. RESULTS: HER2 amplification was observed in 22 (28.2%) of 78 tumors, of which 17 were in group 1, 1 in group 2, and 2 each in groups 3 and 4 (FISH assay, 2018). The remaining 14 HER2-amplified tumors (FISH assay, 2013) became negative, falling into group 2 (FISH assay, 2018) and were either negative or equivocal on immunohistochemistry (IHC, 2018). All FISH-negative tumors (nâ =â 37) using 2013 criteria remained negative (group 5, 2018). FISH-equivocal tumors (2013) were further categorized into HER2 amplified (nâ =â 1) and HER2 negative (nâ =â 4) (2018). Overall, 20 (25.6%) tumors had discordant HER2 FISH results (2018 vs 2013). CONCLUSIONS: Implementing 2018 guidelines, HER2 amplification decreased from 36 to 22 cases. The group with a HER2/CEP17 ratio of 2 or more and average HER2 copy number less than 4 (group 2) were predominantly negative by IHC, suggesting a biologically distinct group of HGUCa that is different from HER2-amplified tumors, which may not respond to HER2-targeted therapy.
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Carcinoma de Células de Transição , Neoplasias da Bexiga Urinária , Biomarcadores Tumorais/genética , Neoplasias da Mama , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Guias de Prática Clínica como Assunto , Receptor ErbB-2/genéticaRESUMO
BACKGROUND: Human papilloma virus (HPV) infection is implicated in a proportion of invasive squamous cell carcinoma of the penis (PC). A subset of PC involves dysregulation of the p53 pathway. HPV in situ hybridization (ISH) and p16ink4a positivity are surrogate markers for HPV infection, and p53 immunohistochemistry (IHC) denotes abnormality in the p53 pathway. There remains an ambiguity with regard to the contribution of both the pathways in the prognosis of PC. We sought to analyze the clinicopathologic characteristics of a cohort of Indian PC patients with respect to p16 ink4a and p53 expression. PATIENTS AND METHODS: A cohort of 123 PC patients was studied for p16ink4aand p53IHC and HPVISH. The results of these biomarkers were correlated with various clinicopathologic parameters. RESULTS: p16ink4a and HPV ISH were positive in 47% and 53% of the tumors, respectively. The proportion of warty, basaloid, or mixed warty-basaloid tumor subtypes showed significant p16ink4apositivity (P < .0001) compared to other subtypes. Twenty-eight patients were dual negative (p53- /p16ink4a-), 32 were dual positive (p53+/p16ink4a+), 38 were p53+/p16ink4a-, and 25 were p53-/p16ink4a +. In patients where p16ink4a was negative, a p53-positive phenotype had a higher propensity for lymph node metastases (OR, 5.42; 95% CI, 1.75-16.80; P = .003). Similarly, p53 positivity dictates nodal involvement in the p16ink4a-positive subset of tumors (OR, 5.00; 95% CI, 1.23-20.17; P = .024). On multivariate analyses, pathologic subtypes (warty, warty-basaloid, and basaloid) (P < .0001), p16ink4aexpression (P < .0001), and absence of nodal metastasis (P < .0001) were significant predictors of improved overall (OS) and cancer specific survival (CSS). In Kaplan-Meier analysis, the OS was significantly longer in patients with p16ink4a + tumors (P < .0001), as was the CSS (P < .0001). Patients with dual positive tumors had a significantly higher OS (P < .001) and CSS (P = .012), in the entire cohort. In the node positive patients, dual positivity was associated with significantly higher OS (P < .0001); however, the median CSS for p53+/p16ink4a+tumors were not significantly different compared to p53- /p16ink4a- tumors (P = .064), although there was a trend towards improved CSS. CONCLUSIONS: There is a strong concordance between p16ink4aIHC and HPV ISH results. p16ink4a status is an independent predictor of survival (OS and CSS) in our cohort of PCs. p53 is a predictor of nodal metastasis irrespective of p16 status. Dual positive tumors have a significantly better outcome in comparison to dual negative tumors.
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Carcinoma de Células Escamosas , Inibidor p16 de Quinase Dependente de Ciclina/genética , Infecções por Papillomavirus , Neoplasias Penianas , Proteína Supressora de Tumor p53/genética , Biomarcadores Tumorais , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/virologia , Humanos , Masculino , Metástase Neoplásica , Papillomaviridae , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/diagnóstico , Neoplasias Penianas/diagnóstico , Neoplasias Penianas/virologia , Prognóstico , Taxa de SobrevidaRESUMO
Primary Ewing sarcoma (ES) of the urinary bladder is a rare and aggressive small blue round cell malignant neoplasm associated primarily with translocation involving EWSR1 and FLI1 genes located in the 22nd and 11th chromosomes, respectively. To date, 18 cases have been published in the literature as single-case reports, based chiefly on CD99 positivity (17 patients). Molecular confirmation by fluorescence in situ hybridization was performed in 9 patients, and FLI1 immunohistochemical (IHC) analysis was not performed in any of these published cases. Herein, we present thirteen patients of more comprehensive primary round cell sarcomas of the urinary bladder with EWSR1 rearrangement. Clinicopathologic parameters including demographics; clinical presentation; histopathologic, IHC, and molecular profiles; and management and follow-up data of 13 patients with primary round cell sarcomas with EWSR1 rearrangement (Ewing family of tumor) of the urinary bladder were analyzed. The studied patients (n = 13) included 6 females and 7 males; their age ranged from 4 years to 81 years (median = 30 years). The most common clinical presentation was hematuria (n = 7), followed by hydronephrosis (n = 2, one with renal failure). The tumor size ranged from 2.9 cm to 15 cm in maximum dimension. Conventional ES architecture and histology was observed in 6 cases, and diverse histology was observed in 7 cases (adamantinomatous pattern [n = 1], alveolar pattern [n = 1], ganglioneuroblastoma-like pattern [n = 2], and small cell carcinoma-like pattern [n = 3]). All the tumors were muscle invasive (invasion into the muscularis propria). IHC analysis showed that all tumors expressed FLI1, CD99, and at least one neuroendocrine marker. Focal cytokeratin staining was positive in 2 patients, and RB1 was retained in all patients. EWSR1 rearrangement was seen in 12 of 12 tumors (in 12 patients) tested. A combined multimodal approach that included surgery with chemotherapy was instituted in all patients. Follow-up was available for 11 patients (ranging from 5 to 24 months). Six patients either died of disease (n = 3) or other causes (n = 3). Five patients were alive with metastases to the liver (n = 1), liver and lung (n = 2), liver and abdominal wall (n = 1), and kidney (n = 1). Based on our experience with the largest series to date and aggregate of the published data, ES/round cell sarcomas with EWSR1 rearrangement occurring in the bladder have bimodal age distribution with poor prognosis despite aggressive therapy. Owing to its rarity and age distribution, the differential diagnosis is wide and requires a systematic approach for ruling out key age-dependent differential diagnoses aided with molecular confirmation.
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Biomarcadores Tumorais/genética , Rearranjo Gênico , Proteína EWS de Ligação a RNA/genética , Sarcoma/genética , Neoplasias da Bexiga Urinária/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Humanos , Índia , Masculino , Pessoa de Meia-Idade , Fenótipo , Estudos Retrospectivos , Sarcoma/mortalidade , Sarcoma/secundário , Sarcoma/terapia , Neoplasias da Bexiga Urinária/mortalidade , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/terapia , Adulto JovemRESUMO
Rosai-Dorfman disease (RDD) is a rare benign systemic histiocytic proliferation, characterized by massive lymph node enlargement and sometimes associated with extranodal involvement. Even though it is considered as a benign disease, fatalities can occur due to its unusually large size and its location. Our case highlighting a primary extranodal site of vallecula, which is extremely rare and not reported in literature before. It presented with almost complete obstructing the oropharyngeal airway creating a life threatening situation, needed emergency tracheostomy.
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Obstrução das Vias Respiratórias/diagnóstico por imagem , Histiocitose Sinusal/diagnóstico por imagem , Adulto , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/cirurgia , Histiocitose Sinusal/complicações , Histiocitose Sinusal/patologia , Histiocitose Sinusal/cirurgia , Humanos , Laringoscopia , Masculino , Tomografia Computadorizada por Raios X , TraqueostomiaRESUMO
We report a very rare case of urinary bladder stone in a laboratory rat, which was associated with severe prostatitis and seminal vesiculitis. Importantly, the histopathological analysis revealed the rare variety of keratinizing desquamative squamous metaplasia of bladder, prostate, and seminal vesicle epithelium. Immunohistochemistry for alpha smooth muscle actin protein and aniline blue staining for collagen clearly showed interstitial prostate fibrosis. The detail information about these findings and subsequent discussion are provided here.
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Malignant peripheral nerve sheath tumor (MPNST) of the adrenal gland is extremely rare. Most of them occur in association with neurofibromatosis, ganglioneuroma or as part of a composite tumor such as pheochromocytoma. Only seven cases of MPNST of the adrenal gland have been reported in the literature till date. Discriminating this entity from other soft tissue sarcomas and gastrointestinal stromal tumor of the adrenal gland has important diagnostic and therapeutic implications. Moreover, the tumor size and pattern of expression for certain immunohistochemical markers may serve as independent predictors of aggressiveness. Herein we present a 24-years-old male with features of Von Recklinghausen's disease who presented with large left adrenal gland malignant peripheral nerve sheath tumor.
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Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Neurilemoma/diagnóstico , Neurilemoma/patologia , Neurofibromatose 1/complicações , Neurofibromatose 1/diagnóstico , Neoplasias das Glândulas Suprarrenais/cirurgia , Glândulas Suprarrenais/diagnóstico por imagem , Histocitoquímica , Humanos , Masculino , Microscopia , Neurilemoma/cirurgia , Tomografia Computadorizada por Raios X , Adulto JovemRESUMO
Sterocleidomastoid tumor of infancy (SCMI), also known as fibromatosis colli of infancy, is a benign, self limiting disease of new born characterised by its classical history and clinical presentation of firm to hard fusiform mass in the lower and middle portion of sternocleidomastoid. SCMI often appears during early perinatal period between second to fourth weeks of life. A well recognized association between SCMI and primiparous birth, breech presentation, prolonged difficult labor and forceps deliveries is found. Cytology shows spindle shaped mature fibroblastic cells scattered singly along with degenerated and multinucleated giant muscle cells in a clean background. It is important to differentiate this lesion from different forms of infantile fibromatosis. Fine-needle aspiration cytology (FNAC), as a time saving, rapid and reliable diagnostic procedure, has got bigger role to play in reassurance of anxious parents, guiding for conservative management and avoiding surgery.