Pediatric Small Round Blue Cell Tumors: Cytopathological Puzzle or an Intriguing Scientific Window?

2021 ◽  
pp. 1-17
Author(s):  
Helena Barroca
Keyword(s):  
Final Diagnosis ◽  
Diagnostic Techniques ◽  
Cytological Diagnosis ◽  
Morphological Pattern ◽  
Molecular Alterations ◽  
Routine Work ◽  
Blue Cell ◽  
Poorly Differentiated ◽  
Salt And Pepper ◽  
Probable Diagnosis

<b><i>Background:</i></b> Small round blue cell tumors or more commonly called small round cell tumors (SRCTs) are undifferentiated neoplasms, sharing an overlapping morphological pattern of small round blue cells. Diagnosing these tumors represents a complex challenge for cytopathologists and for general surgical pathologist alike. This stems from the fact that these tumors share not only similar morphological features, but also some immunophenotypic characteristics, thus requiring a broad panel of antibodies, which might not be included in the most basic immunohistochemistry panels, used in the routine work of most pathology laboratories. Furthermore, one should note that the diagnosis, prognosis, and/or therapeutic decision are often dependent on the knowledge of the existence of specific molecular alterations, which requires access to sophisticated molecular ancillary techniques. Cytological diagnosis of SRCT should be systematized. A thorough understanding of the morphological pattern of these tumors, the small details they entail, the background and cellular patterns, and the nuclear and cytoplasmic peculiarities, may hint to the most probable diagnosis. Minor clues, such as the presence of a fibrillar background, the presence of rosettes or a specific “salt and pepper” chromatin, are important clues toward a probable diagnosis of a neuroblastoma, or the presence of a tigroid background is a characteristic of rhabdomyosarcoma and the Ewing family tumors. However, in poorly differentiated tumors, morphology alone will not suffice, making it essential for the access to complementary diagnostic techniques in order to reach the final diagnosis. <b><i>Summary and Key Messages:</i></b> The cytological diagnosis and treatment of SRCTs require an experienced, well-articulated, proficient teamwork, and sophisticated complementary diagnostic techniques, only available in centers of reference.

F.N.A.C. AS DIAGNOSTIC TOOL OF PAROTID TUMORS AND ASSOCIATED PITFALLS IN CORRELATION WITH HISTOPATHOLOGY

2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Bhawana Pant ◽  
Sanjay Gaur ◽  
Prabhat Pant
Keyword(s):  
Preoperative Diagnosis ◽  
Histopathological Examination ◽  
Clinical Information ◽  
Final Diagnosis ◽  
Needle Aspiration ◽  
Histopathological Diagnosis ◽  
Cytological Diagnosis ◽  
Tertiary Referral Centre ◽  
Clear Cut ◽  
Parotid Tumors

F.NA.C has been used for ages as a safe and economical tool for fast preoperative diagnosis of parotid tumors. It has certain pitfall which sometimes leads to misdiagnosis and consequently it may have affect on treatment of the tumors. Keeping in view of the diverse classification of parotid tumors’ information from cytology should be combined with radiology as well as clinical diagnosis. Aim: To discuss some cases where there was discrepancy between cytological diagnosis and histopathological result and also suggest measures to improve the efficacy of F.N.A.C. Material and methods: The study includes 50 cases of parotid tumours who presented to the  department of ENT at Government medical college Haldwani which is a tertiary referral centre during 2009 to 2016. Only adult patients were included and inflammatory swelling were excluded from the study. All patients evaluated  Contrast enhanced computerized tomography(CECT) and  Magnetic resonance imaging (MRI) followed by Fine needle aspiration cytology .Preoperative diagnosis was made upon the findings of the above investigations and different types of  parotid surgeries  were done. . Final diagnosis was made on  histopathological  examination. Result :The most common tumour  came out to be pleomorphic adenoma (23 cases-46%) followed by mucoepidermoid carcinoma(12cases-24%). In ten  cases there was no clear cut  association between cytological diagnosis and final histopathological diagnosis. Conclusion: FNAC is highly sensitive and specific technique for diagnosis of many salivary gland swellings. FNAC can be used preoperatively to avoid unnecessary surgery and biopsy. Details of clinical information and radiologic features may help the pathologist to arrive at the appropriate diagnosis and reduce false interpretation. Pitfalls may also occur with improper technique of FNAC which can be overcome by proper caution.

Cancer of the Pancreas: Clinical Outcome in 76 Cases

1986 ◽  
Vol 72 (6) ◽  
pp. 601-607 ◽  
Author(s):  
Vittorio Pugliese ◽  
Sebastiano Saccomanno ◽  
Luigina Bonelli ◽  
Daniela Barone ◽  
Massimo Conio ◽  
...  
Keyword(s):  
Pancreatic Cancer ◽  
High Risk ◽  
Clinical Outcome ◽  
Clinical Presentation ◽  
High Sensitivity ◽  
Radical Resection ◽  
Final Diagnosis ◽  
Diagnostic Techniques ◽  
Tissue Diagnosis ◽  
Cancer Of The Pancreas

A final diagnosis of pancreatic cancer was established in 76 consecutive patients during 4 years. The clinical outcome was evaluated retrospectively, as well as clinical presentation and its impact on the rate of resectability. Even though the diagnostic techniques showed a high sensitivity, only 18.4% of patients had a radical resection performed. In 77.6% of the cases a tissue diagnosis had been obtained. However, in only 1/5 of them was the tissue proof obtained preoperatively. This review confirms that the survival of patients with pancreatic cancer is poor, with slight advantages in the few resectable cases. Therefore, an earlier diagnosis should be attempted in high-risk symptomatic patients, selected by means of nonaggressive tests and evaluated by means of more accurate diagnostic techniques, when suitable.

Role of CD200 in the Detection of Nonhematologic Neoplasms by Routine Flow Cytometry Analysis

2021 ◽  
Vol 156 (Supplement_1) ◽  
pp. S7-S8
Author(s):  
Joseph Laakman ◽  
Carol Holman
Keyword(s):  
Flow Cytometry ◽  
Cell Carcinoma ◽  
Small Cell Carcinoma ◽  
Acinar Cell Carcinoma ◽  
Small Cell ◽  
Negative Case ◽  
Blue Cell ◽  
Poorly Differentiated ◽  
Diagnostic Work ◽  
Work Up

Abstract Objectives While flow cytometry is routinely used in the diagnostic work-up of hematolymphoid malignancies, its role in identifying non-hematolymphoid neoplasms is controversial. While a diagnosis of “non-hematolymphoid process” may be suggested by flow cytometry, typically, CD45-negative entities are not further characterized by their immunophenotypic profile. Some markers, such as CD56, have been well documented in non-hematolymphoid malignancies, such as high-grade neuroendocrine carcinomas (Stacchini, et al, 2018; Bryson et al, 2002). Other cell surface markers that are routinely studied with flow cytometry panels, such as CD200, are less well-described in the literature with regards to their presence/absence in non-hematolymphoid processes. We examined all flow cytometry cases from our institution over a 5-year period to identify trends in the immunophenotypes of non-hematolymphoid malignancies that were known to be CD45-negative and CD56-positive by flow cytometry. Methods We examined 3634 flow cytometry cases (2015-2020) and identified non-hematolymphoid cases based upon lack of CD45 expression. After excluding multiple myeloma cases from the CD45-negative entities, we were left with 19 CD45-negative cases. Chart review of these cases confirmed them as non-hematolymphoid by concurrent surgical pathology/cytopathology studies. Of these 19 cases, 2 were excluded because CD56 was not evaluated. Results Of the 17 CD45-negative/CD56-positive cases, 16 showed CD200 positivity (94%). Of these CD200-positive cases, 10 were ultimately diagnosed as small cell carcinoma (59%), 1 was diagnosed as Merkel cell carcinoma (6%), 1 was diagnosed as melanoma (6%), 1 was diagnosed as poorly-differentiated carcinoma (6%), 1 was diagnosed as Ewing-like sarcoma (6%), and 2 were unclassified further (12%). The single CD200-negative case was diagnosed as poorly-differentiated acinar cell carcinoma (6%). All cases of small cell carcinoma that were evaluated by flow cytometry showed expression of CD200 and CD56. Conclusions Our findings suggest that in CD45-negative/CD56-positive non-hematolymphoid malignancies, particularly small cell carcinoma, CD200 is frequently positive. CD200 was also found to be positive in rare cases of other non-hematolymphoid malignancies within the differential diagnosis of small round blue cell tumors. These findings indicate that CD200 may be a useful marker in suggesting the possibility of small cell carcinoma in non-hematolymphoid specimens that are evaluated by flow cytometry.

Epithelioid Hyalinizing Sarcoma With MGA-NUTM1 Fusion

2020 ◽  
Vol 154 (6) ◽  
pp. 859-866
Author(s):  
Caroline I M Underwood ◽  
Diana M Cardona ◽  
Rex C Bentley ◽  
Guomiao Shen ◽  
Xiaojun Feng ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Immunohistochemical Study ◽  
Soft Tissue Sarcomas ◽  
Soft Tissue Tumors ◽  
Molecular Testing ◽  
Molecular Alterations ◽  
Poorly Differentiated ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Objectives Soft tissue sarcomas are a group of tumors derived from the mesenchymal origin. Historically, they have been classified according to morphologic and immunohistochemical characteristics. The advent of multiplexed next-generation sequencing (NGS), specifically RNA sequencing, has modified the classification of such tumors and others by determining categorization based on molecular alterations. The NUTM1 rearrangement, previously thought to be present only in carcinomas, has recently been reported in poorly differentiated high-grade sarcomas of the soft tissue. We present the first reported case of an epithelioid hyalinizing sarcoma harboring the MGA-NUTM1 fusion in an acral site. Methods Histopathologic, immunohistochemical, and molecular testing were performed on resection tissue. Results Histologically, the tumor showed an epithelioid morphology with prominent background hyalinization. Immunohistochemically, the tumor expressed CD99 and nuclear NUT-1. By NGS the tumor harbors MGA-NUTM1 fusion. Conclusions Our findings support more extensive use of NGS for accurate sarcoma classification and identification of potential therapeutic targets. Furthermore, they corroborate the fact that NUTM1-rearranged soft tissue tumors represent a spectrum of heterogeneous morphologic entities. This case also highlights the utility of NUT-1 immunohistochemical study as a possible screening tool for NUTM1-fused sarcomas.

scholarly journals Aicardi-Goutieres Syndrome – A Case Report

2014 ◽  
Vol 4 (1) ◽  
pp. 43-46
Author(s):  
MA Taher ◽  
F Shegufta ◽  
MT Rahman ◽  
N Abedin ◽  
N Rahman ◽  
...  
Keyword(s):  
Ct Scan ◽  
Cerebral Atrophy ◽  
Final Diagnosis ◽  
Cortical Atrophy ◽  
Normal Limits ◽  
Brain Ct Scan ◽  
Wbc Count ◽  
Torch Infection ◽  
Probable Diagnosis ◽  
Csf Examination

A 4 month old male baby, who had episodes of generalized convulsion for 11/2 months and microcephaly, was referred to Radiology & Imaging dept. of BIRDEM for CT scan of brain. CT scan of brain showed extensive calcifications in both cerebral and cerebellar hemispheres –The probable diagnosis was TORCH infection with mild generalized cerebral atrophy. TORCH screening was done and found negative. Patient’s RBS, SGPT, S.Calcium, Parathyroid hormone, TSH , thyroxine were within normal limits. MRI of brain showed extensive T1W hypointense and T2W hyperintense areas in peri- ventricular locations represent leukodystrophy and mild cortical atrophy of brain. CSF examination revealed WBC count 10 cells /mm3 and all the cells were lymphocytes. Aicardi Goutieres Syndrome is a rare autosomal recessive disease in which there is extensive paraventricular cerebral and cerebellar calcifications with leukodystrophy and CSF lymphocytosis. Considering history, biochemical and imaging findings the final diagnosis was Aicardi Goutieres Syndrome . DOI: http://dx.doi.org/10.3329/birdem.v4i1.18553 Birdem Med J 2014; 4(1): 43-46

scholarly journals Immunológiai eltérések kimutatása laboratóriumi módszerekkel primer immunhiányos betegségekben

2018 ◽  
Vol 159 (49) ◽  
pp. 2087-2094 ◽  
Author(s):  
Gábor Nagy
Keyword(s):  
Immune System ◽  
Clinical Signs ◽  
Diagnostic Procedures ◽  
Final Diagnosis ◽  
Genetic Alterations ◽  
The Family ◽  
In Vitro Diagnostic ◽  
The Complement System ◽  
Probable Diagnosis

Abstract: In primary immunodeficiencies, the malfunction of the immune system is caused by genetic alterations. The physician proposes the most probable diagnosis based on symptoms, clinical signs, the family history and the results of the pathogen identification. To confirm this clinical suspicion, it is essential that the immunological malfunction be tested using in vitro diagnostic procedures. This paper summarizes the screening, confirmatory and disease-specific laboratory methods capable of testing the antibody response, the T cells, the phagocytic function, the complement system and other components of the innate immune system. The genetic tests necessary to make the final diagnosis are beyond the scope of this publication. Orv Hetil. 2018; 159(49): 2087–2094.

scholarly journals Desmoplastic Infantile Astrocytoma and Desmoplastic Infantile Ganglioglioma – not so infantile anymore

2020 ◽  
Vol 6 (7) ◽  
pp. 440-448
Author(s):  
Dr. Jyotsna Sahai ◽  
◽  
Dr. Shilpi Sahu ◽  
Keyword(s):  
Spindle Cell ◽  
Age Groups ◽  
Good Prognosis ◽  
Differentiated Cells ◽  
Desmoplastic Infantile Astrocytoma ◽  
Meningeal Involvement ◽  
Blue Cell ◽  
Dural Attachment ◽  
Poorly Differentiated ◽  
Round Blue Cell Tumor

DIA and DIG are rare, infantile, supratentorial neoplasms that usually occur in children before 2years of age and are exceedingly rare in older age groups. They appear as hypodense, cystic masseswith solid components showing dural attachment on neuroimaging. They are characterized byreticulin-rich spindle cell stroma containing connective tissue due to meningeal involvement,microscopically. These tumors have potential for misdiagnosis because they contain varyingproportions of neoplastic glial, neuronal and poorly differentiated cells, which causes them to have a“small round blue cell tumor” like appearance, though they have a good prognosis if correctlydiagnosed. The current study report two cases diagnosed at our institution that had very latepresentation with varying complaints which challenged the normally believed dictum of these tumorsbeing entirely infantile.

scholarly journals Cervical poorly differentiated adenocarcinoma with dominant choriocarcinomatous pattern: A case report

2015 ◽  
Vol 72 (7) ◽  
pp. 651-653 ◽  
Author(s):  
Branka Nikolic ◽  
Aleksandar Curkovic ◽  
Svetlana Dragojevic-Dikic ◽  
Ana Mitrovic ◽  
Igor Kuzmanovic ◽  
...  
Keyword(s):  
Case Report ◽  
Cervical Carcinoma ◽  
Rare Event ◽  
Final Diagnosis ◽  
Good Prognosis ◽  
Cervical Adenocarcinoma ◽  
Preoperative Serum ◽  
Beta Hcg ◽  
Poorly Differentiated ◽  
Proper Diagnosis

Introduction. Gestational trophoblastic neoplasm (GTN), choriocarcinoma in coexistence with primary cervical adenocarcinoma, is a rare event not easy to diagnose. Choriocarcinoma is a malignant form of GTN but curable if metastases do not appear early and spread fast. Case report. We presented choriocarcinoma in coexistence with primary cervical adenocarcinoma in a 48-year-old patient who had radical hysterectomy because of confirmed cervical carcinoma (Dg: Carcinoma porto vaginalis uteri FIGO st I B1). Histological findings confirmed cervical choriocarcinoma with extensive vascular invasion and apoptosis but GTN choriocarcinoma was finally confirmed after immunohystochemical examinations. Preoperative serum human gonadotropine (beta hCG) level stayed unknown. This patient did not have any pregnancy-like symptoms before the operation. The first beta hCG monitoring was done two months after the operation and found negative. According to the final diagnosis the decision of Consilium for Malignant Diseases was that this patient needed serum hCG monitoring as well as treatment with chemotherapy for high-risk GTN and consequent irradiation for adenocarcinoma. Conclusion. The early and proper diagnosis of nonmetastatic choriocarcinoma of nongestational origine in coexistence with cervical carcinoma is curable and can have good prognosis.

Primary Peritoneal Malignant Mixed Mesodermal (Müllerian) Tumor

2009 ◽  
Vol 95 (4) ◽  
pp. 525-531 ◽  
Author(s):  
Mahmoud R Hussein ◽  
Saad Rezk Abudlwahed Hussein ◽  
Ahmad Rezk Abd-Elwahed
Keyword(s):  
Abdominal Mass ◽  
Malignant Neoplasm ◽  
Immunohistochemical Analysis ◽  
Molecular Alterations ◽  
Gynecological Examination ◽  
Positive Reactivity ◽  
S 100 ◽  
Poorly Differentiated ◽  
Exact Origin ◽  
Abdominal Fullness

Aims and background Malignant mixed mesodermal tumor (MMMT) is a biphasic neoplasm (carcinosarcoma) composed of both epithelial and mesenchymal elements. Extragenital MMMT, including primary peritoneal MMMT, is an extremely rare tumor with features consistent with its origin from the secondary Müllerian system. The neoplastic elements of extragenital MMMT presumably arise directly from the mesothelium or submesothelial stroma and hence parallel the biphasic pattern of the genital (uterine or ovarian) counterpart. Methods and study design Here we report on the clinical, pathological, and immunohistochemical features of a case of peritoneal MMMT in a 65-year-old woman. The patient presented with abdominal fullness and pain. Gynecological examination revealed a huge pelvic abdominal mass. On histology, the tumor consisted of poorly differentiated carcinomatous and sarcomatous (rhabdomyosarcoma) components. Further immunohistochemical analysis revealed positive reactivity for both epithelial (cytokeratin and epithelial membrane antigen) and mesenchymal (vimentin, S-100, and desmin) markers. The patient refused treatment and died of the disease three months later. Results and conclusions Based on the present case and on previous studies, primary peritoneal MMMT seems to be a rare but highly malignant neoplasm with an aggressive behavior and poor prognosis. Its exact origin, histogenesis and molecular alterations are poorly understood.

scholarly journals Sarcomatoid carcinoma of the gallbladder: a case report

2020 ◽  
Vol 48 (6) ◽  
pp. 030006052093528 ◽  
Author(s):  
Yunfu Shi ◽  
Jiabin Chen ◽  
Hua Chen ◽  
Xiufang Hong
Keyword(s):  
Sarcomatoid Carcinoma ◽  
Final Diagnosis ◽  
Palliative Surgery ◽  
Rapid Progression ◽  
Short Term ◽  
Rare Type ◽  
Poorly Differentiated Adenocarcinoma ◽  
Whole Process ◽  
Poorly Differentiated ◽  
Worse Prognosis

Sarcomatoid carcinoma is a rare type of gallbladder cancer with no specific clinical manifestation. The final diagnosis depends on pathological and immunohistochemical examination. Sarcomatoid carcinoma is characterized by early lymphatic metastasis, rapid progression, a high short-term recurrence rate, and a worse prognosis than adenocarcinoma. This report describes a 60-year-old woman with poorly differentiated adenocarcinoma of the gallbladder. She underwent treatment with chemotherapy and surgery. Palliative surgery was performed for treatment of tumor recurrence in April 2018. Postoperative pathology showed infiltration of poorly differentiated carcinomas, most of which were sarcomatoid. After four cycles of chemotherapy, the disease continued to progress. Anlotinib tablets were given from August 2018 to November 2018 but were then stopped because of gastrointestinal bleeding. The patient died in April 2019. This paper reports the whole process of diagnosis and treatment in this case of gallbladder sarcomatoid carcinoma, thus providing a reference for treatment.

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