scholarly journals Massive Relief: Papillary Adenoma of the Lung in Asymptomatic Former Smoker Patient

Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 906
Author(s):  
Jelena Stojšić ◽  
Marko Popović ◽  
Federica Pezzuto ◽  
Jelena Marković
Keyword(s):  
Wide Spectrum ◽  
Single Layer ◽  
Final Diagnosis ◽  
Malignant Potential ◽  
Diagnostic Process ◽  
Capsular Invasion ◽  
Diagnostic Challenge ◽  
Immunohistochemical Markers ◽  
Long Time

Benign epithelial tumors of the lung are uncommon and can represent a diagnostic challenge. Herein, we describe one such emblematic case. A 59-year-old former smoker male was admitted to the hospital complaining of cough for a long time. A radiological examination showed a centrally excavated mass strictly connected to the visceral pleura. The patient underwent tumorectomy. At gross examination, the tumor was composed of solid and cystic areas containing clear liquid. Histological examination highlighted a sub-pleural encapsulated tumor, with foci of capsular invasion, characterized by a single layer of columnar and cuboidal epithelial cells lining moderately cellular fibro-vascular cores. A wide spectrum of immunohistochemical markers was performed. The final diagnosis was suggestive of a peripheral pulmonary papillary tumor of undetermined malignant potential. At the last follow-up, six years after surgery, no recurrence or metastases were described. Reporting this case, we would like to point out the existence of these rare entities that should be taken into account in the diagnostic process, thus avoiding potential misdiagnosis. Moreover, the presence of capsular invasion should be better investigated in order to reconsider the exact terminology of the tumor and the classification of its malignant potential.

scholarly journals Leukoencephalopathy with Calcifications and Cysts—The First Polish Patient with Labrune Syndrome

2020 ◽  
Vol 10 (11) ◽  
pp. 869
Author(s):  
Magdalena Machnikowska-Sokołowska ◽  
Jacek Pilch ◽  
Justyna Paprocka ◽  
Małgorzata Rydzanicz ◽  
Agnieszka Pollak ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Cyst Formation ◽  
Final Diagnosis ◽  
Genetic Mutation ◽  
Teenage Girl ◽  
White Matter Abnormality ◽  
Imaging Results ◽  
Initial Imaging ◽  
Polish Patient

Leukoencephalopathy with calcifications and cysts (LCC) is a triad of neuroradiological symptoms characteristic of Labrune syndrome, which was first described in 1996. For 20 years, the diagnosis was only based on clinical, neuroradiological and histopathological findings. Differential diagnosis included a wide spectrum of diseases. Finally, in 2016, genetic mutation in the SNORD118 gene was confirmed to cause Labrune syndrome. The authors describe a case of a teenage girl with progressive headaches, without developmental delay, presenting with calcifications and white matter abnormality in neuroimaging. Follow-up studies showed the progression of leukoencephalopathy and cyst formation. The first symptoms and initial imaging results posed diagnostic challenges. The final diagnosis was established based on genetic results. The authors discuss the possible therapy of LCC with Bevacizumab.

scholarly journals Fifteen-Year Follow-Up of a Patient with Acinar Cystic Transformation of the Pancreas and Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-5
Author(s):  
Xiaoyun Wen ◽  
Jela Bandovic
Keyword(s):  
Abdominal Pain ◽  
Cystic Lesion ◽  
Pancreatic Head ◽  
Single Layer ◽  
Exploratory Laparotomy ◽  
Final Diagnosis ◽  
Cystic Neoplasm ◽  
Histologic Diagnosis ◽  
Ultrasound Surveillance

Acinar cystic transformation (ACT), also known as “acinar cell cystadenoma,” is a rare and newly recognized benign pancreatic cystic neoplasm. However, its true malignant potential remains unknown. Here, we report a case of ACT with 15-year follow-up. A 10-year-old female initially presented with abdominal pain and was found to have a cystic lesion in the region of pancreatic head on computed tomography scan. She underwent an exploratory laparotomy, and the intraoperative biopsy of the cyst wall showed a true pancreatic cyst without malignancy. Her symptoms subsequently resolved, and she was placed under close ultrasound surveillance. For the next fifteen years, the patient was asymptomatic without any complications and had a successful pregnancy. Surveillance showed the tumor grew in size from 4.2 cm to 6.2 cm in diameter. In the latest five months, she noted occasional abdominal pain. A pylorus-preserving pancreaticoduodenectomy was performed. The resected cystic lesion was multilocular and lined by a single layer of bland epithelium ranging from nondescript flat/cuboidal epithelium to apparent acinar cells which were strongly positive for trypsin, so the final diagnosis was confirmed to be ACT. The prior biopsy was retrospectively reviewed to reveal similar epithelial lining. To the best of our knowledge, this is the longest period of follow-up for ACT to date. Our findings suggest that ACT is a slow-growing neoplasm without malignant transformation after fifteen years. Therefore, we recommend biopsy for histologic diagnosis followed by close ultrasound surveillance without surgical intervention in asymptomatic or young ACT patients.

Vulvar Leiomyomatosis: A Diagnostic Challenge Case Report

2020 ◽  
Vol 16 (1) ◽  
pp. 81-83
Author(s):  
Malihe Hasanzadeh ◽  
Somayeh Moeindarbari ◽  
Leila Mousavi Seresht ◽  
Amir Hosein Jafarian ◽  
Anahita Hamidi ◽  
...  
Keyword(s):  
Case Report ◽  
Virgin Female ◽  
Surgical Excision ◽  
Final Diagnosis ◽  
Definite Diagnosis ◽  
Diagnostic Challenge ◽  
Case Presentation ◽  
Smooth Muscle Tumors ◽  
History Of

Introduction: Vulvar leiomyomas are rare and usually misdiagnosed as Bartholin’s cyst on initial presentation. Leiomyoma of vulva accounts for only 0.03% of all gynecological neoplasm. Definite diagnosis is based on surgical excision of the tumor. The aim of this report is to introduce a case of leiomyoma of the vulva which was initially misdiagnosed as Bartholin’s cyst. Case Presentation: We present a case of a 36-year old virgin female (BMI>30) who was referred to the clinic with a 5-year history of left labial mass which was initially diagnosed as Bartholin’s cyst. The mass was removed and the pathologist confirmed that the final diagnosis was vulvar leiomyoma. Conclusion: Vulvar leiomyoma is usually misdiagnosed with Bartholin cyst and distinguishing between benign and malignant forms is confusing, so it is a diagnostic challenge. Surgical excision is the treatment of choice in all smooth muscle tumors of the vulva. Continuing follow-up after treatment is highly recommended.

Autoimmune Pancreatitis – Diagnosis, Management and Longterm Follow-up

2014 ◽  
Vol 23 (2) ◽  
pp. 179-185 ◽  
Author(s):  
Suvadip Chatterjee ◽  
Kofi W. Oppong ◽  
John S. Scott ◽  
Dave E. Jones ◽  
Richard M. Charnley ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Rare Condition ◽  
Team Approach ◽  
Diagnostic Challenge ◽  
Multisystem Disorder ◽  
North East ◽  
The North ◽  
Work Up ◽  
Igg4 Level

Background & Aims: Autoimmune pancreatitis (AIP) is a fibroinflammatory condition affecting the pancreas and could present as a multisystem disorder. Diagnosis and management can pose a diagnostic challenge in certain groups of patients. We report our experience of managing this condition in a tertiary pancreaticobiliary centre in the North East of England.Methods: Patients were identified from a prospectively maintained database of patients diagnosed with AIP between 2005 and 2013. Diagnosis of definite/probable AIP was based on the revised HISORt criteria. When indicated, patients were treated with steroids and relapses were treated with azathioprine. All patients have been followed up to date.Results: Twenty-two patients were diagnosed with AIP during this period. All patients had pancreatic protocol CT performed while some patients had either MR or EUS as part of the work up. Fourteen out of 22 (64%) had an elevated IgG4 level (mean: 10.9 g/L; range 3.4 - 31 g/L). Four (18%) patients underwent surgery. Extrapancreatic involvement was seen in 15 (68%) patients, with biliary involvement being the commonest. Nineteen (86%) were treated with steroids and five (23%) required further immunosuppression for treatment of relapses. The mean follow up period was 36.94 months (range 7 - 94).Conclusion: Autoimmune pancreatitis is being increasingly recognized in the British population. Extrapancreatic involvement, particularly extrahepatic biliary involvement seems to be a frequent feature.Diagnosis should be based on accepted criteria as this significantly reduces the chances of overlooking malignancy. Awareness of this relatively rare condition and a multi-disciplinary team approach will help us to diagnose and treat this condition more efiectively thereby reducing unnecessary interventions.

scholarly journals Early recognition of PIMS-TS: a single centre retrospective review

2021 ◽  
Vol 5 (1) ◽  
pp. e001011
Author(s):  
Roshni Mistry ◽  
Nicola Scanlon ◽  
James Hibberd ◽  
Fionnghuala Fuller
Keyword(s):  
Early Recognition ◽  
Febrile Illness ◽  
Final Diagnosis ◽  
University Hospital ◽  
Single Centre ◽  
Retrospective Case ◽  
Reactive Protein ◽  
Review Reports ◽  
Specific Symptoms

IntroductionResearch into paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS) has focused on tertiary level management. This review reports on symptoms and investigations at presentation.MethodsSingle centre retrospective case note analysis of patients fulfilling PIMS-TS diagnostic criteria from March to May 2020 in a London district level university hospital.ResultsSix patients presented in the week prior to their final diagnosis with fever and non-specific symptoms. Raised C-reactive protein (CRP), lymphopenia and hyponatraemia were noted. Kawasaki-like symptoms were under-represented in all patients.InterpretationThe results suggest that a proportion of children with early PIMS-TS present with a non-specific febrile illness and abnormal blood results. Further research is needed to determine the most appropriate identification and follow-up of these children.

scholarly journals Parenchymal mucinous cystadenoma of the kidney: a case report and literature review

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Mahmoudreza Kalantari ◽  
Shakiba Kalantari ◽  
Mahdi Mottaghi ◽  
Atena Aghaee ◽  
Salman Soltani ◽  
...  
Keyword(s):  
Renal Cyst ◽  
Left Kidney ◽  
Previous History ◽  
Mucinous Cystadenoma ◽  
Single Layer ◽  
Renal Cysts ◽  
Cystic Mass ◽  
Flank Pain ◽  
History Of

Abstract Background Mucinous cystadenoma (MC) of the kidney is exceedingly rare. We found 22 similar cases in the literature. These masses are underdiagnosed due to radiologic similarities with simple renal cysts. Case presentation A 66-year-old man with a previous history of hypertension and anxiety was referred to our tertiary clinic with left flank pain. Ultrasound revealed a 60 mm-sized, complex cystic mass with irregular septa in the lower pole of the left kidney (different from last year's sonographic findings of a simple benign cyst with delicate septa). CT scan showed the same results plus calcification. Due to suspected renal cell carcinoma, a radical nephrectomy was performed. Postoperative histopathologic examination revealed a cyst lined by a single layer of columnar mucin-producing cells with small foci of pseudo-stratification, consistent with the MC’s diagnosis. The first follow-up visit showed normal blood pressure without medication and no flank pain and anxiety after a month. Conclusion It is quite challenging to distinguish the primary MC of the kidney from a simple renal cyst based on clinical and imaging findings. The radiologic features of these entities overlap significantly. Thus, complex renal cyst and renal cysts with mural nodules should be followed closely to detect malignancy earlier.

Plasmablastic Myeloma Versus Plasmablastic Lymphoma; Is MYC Rearrangement Helpful Towards A Precise Diagnosis?

2020 ◽  
Vol 154 (Supplement_1) ◽  
pp. S105-S105
Author(s):  
M Khedr ◽  
Y Yusuf ◽  
L Aftab
Keyword(s):  
Reference Range ◽  
Final Diagnosis ◽  
Plasmablastic Lymphoma ◽  
Bone Lesions ◽  
Molecular Testing ◽  
Diagnostic Challenge ◽  
Plasma Cell Neoplasm ◽  
Hiv Antibodies ◽  
Precise Diagnosis ◽  
Diagnostic Work

Abstract Introduction/Objective Plasmablastic myeloma (PBM) is a rare and aggressive plasma cell neoplasm. Differentiating PBM from plasmablastic lymphoma (PBL) represents a diagnostic challenge, as both diseases have overlapping cytomorphologic and immunophenotypic features. Genetic mutations in MYC occur in a majority of PBL cases but rarely in PBM, thus can theoretically be used to differentiate between both neoplasms. Methods We report a case of a 53-year-old female who presented with a rapidly growing mass in her right mandible. Biopsy revealed circumscribed nodules of immunoblastic cells with moderate cytoplasm, large vesicular nuclei and large prominent nucleoli. Apoptotic debris and brisk mitoses were present. Molecular testing revealed a C-MYC rearrangement. The location of the neoplasm and the above described morphological features were suggestive of PBL, especially with a positive C-MYC rearrangement. The neoplastic cells were positive for CD138, MUM1,CD56 and kappa; and negative for CD45, CD20, PAX5, CD3, CD5, CD30, EBER-ISH, HHV8, ALK-1, Lambda, EMA, CD21, CD23, pancytokeratin, CK20, CK7, Cam5.2, chromogranin, synaptophysin, HMB45, S100, P16, P40. MIB-1 showed high positivity, approximately 95%. Results Patient underwent further diagnostic work up, her HIV antibodies result were negative however, she was found to be anemic (Hemoglobin 6.6 g/dl; reference range 12-16 g/dl) and hypercalcemic (Calcium 12.3 mg/dl; reference range 8.5-10.5 mg/dl). PET scan revealed multiple hypermetabolic lytic bone lesions. The bone marrow biopsy showed 80% cellularity with extensive involvement by atypical plasmacytic cells forming large clusters. The patient’s final diagnosis was PBM. Conclusion Differentiating PBM from PBL is essential as treatment is different. Although MYC rearrangement in PBM is not common, it has been demonstrated and therefore should not be used to exclude this diagnosis. Here, we highlight the importance of correlating detailed clinical, radiological, laboratory, histological and genetics data for reaching the final diagnosis.

Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

2021 ◽  
pp. 109352662098649
Author(s):  
Tiffany G Baker ◽  
Michael J Lyons ◽  
Lee Leddy ◽  
David M Parham ◽  
Cynthia T Welsh
Keyword(s):  
Epithelioid Sarcoma ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Diagnostic Challenge ◽  
Patient Demographics ◽  
Immunohistochemical Markers ◽  
Genetic Aberration ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

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