Angiomatosis of the breast: a clinicopathological and immunophenotypical characterisation of seven cases

2019 ◽  
Vol 72 (9) ◽  
pp. 597-602 ◽  
Author(s):  
Paula S Ginter ◽  
Patrick J McIntire ◽  
Lina Irshaid ◽  
Yi-Fang Liu ◽  
Sandra J Shin
Keyword(s):  
Clinical Presentation ◽  
Tumour Size ◽  
Primary Tumour ◽  
Vascular Lesion ◽  
Low Grade ◽  
Ki 67 ◽  
Common Clinical Presentation ◽  
Thin Walled ◽  
Distinguishing Features

AimsMammary angiomatosis is a rare, benign vascular lesion that morphologically mimics low-grade angiosarcoma (LGAS). To date, only occasional reports of this entity have been published, none of which included analysis by immunohistochemistry. The purpose of this study was to further characterise mammary angiomatosis by clinical, histological, and immunohistochemical means while emphasising distinguishing features from LGAS.MethodsSeven cases of primary mammary angiomatosis were evaluated. For one patient, a subsequent recurrence was also evaluated.ResultsAll patients were female with a median age at presentation of 51 years (range: 19–58 years). The most common clinical presentation was that of a palpable abnormality or mass (5/8) and the median primary tumour size was 3.1 cm (range: 2–9 cm). Of the six patients with follow-up, one developed a recurrence 6 years after initial presentation. Histologically, all cases were composed of variably sized ectatic, thin-walled vessels lined by flat normochromic endothelium diffusely infiltrating mammary stroma. Where present, lesional vessels infiltrated between and around terminal duct lobular units but not into individual intralobular stroma. Most cases (6/8) showed a combination of lymphatic-appearing and haemangiomatous-appearing vessels. Lymphatic-appearing vessels were D2-40 positive in all but one case. D2-40 was negative or weak in haemangiomatous-appearing vessels. All lesional vessels were CD31 positive. Ki-67 indices were <1% in all but one case (5%).ConclusionsMammary angiomatosis is a rare vascular lesion that shares clinical, morphological and immunohistochemical features with LGAS; however, certain key traits make the distinction possible.

scholarly journals Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

Characterization of molecular features of pediatric urothelial bladder carcinomas.

2015 ◽  
Vol 33 (7_suppl) ◽  
pp. 345-345
Author(s):  
Ana Collazo Lorduy ◽  
Mireia Castillo-Martin ◽  
Grace Hyun ◽  
Nataliya Gladoun ◽  
Carlos Cordon-Cardo
Keyword(s):  
Bladder Cancer ◽  
Mutational Analysis ◽  
Pediatric Population ◽  
Pcr Amplification ◽  
Low Grade ◽  
Pediatric Tumors ◽  
Rare Entity ◽  
Ki 67 ◽  
Molecular Features

345 Background: Bladder cancer is a rare entity in the pediatric population making it difficult to define surveillance protocols and long term outcomes. Notably, most pediatric tumors are low grade and non-muscle invasive and do not recur. In order to determine the source of the different natural history between pediatric population and adults, we hypothesized that pediatric bladder cancer may potentially stem from different molecular pathways than its adult form. Our main objective was to study the molecular pathogenesis in this rare disease using immunohistochemical (IHC) and mutational analysis of the main known genes involved in bladder cancer. Methods: Paraffin-embedded tissue slides of bladder tumors from three pediatric patients were retrospectively identified from our institution's pathology archives (1990-present) and re-evaluated. Clinical data was reviewed. FGFR3, H-RAS, and PI3K mutational analysis of the most well-known mutated spots was conducted by PCR amplification and Sanger sequencing. IHC analysis was conducted using antibodies against p53, Pten, Rb, EGFR, Her2Neu and ki-67. Results: Two patients had low-grade Ta disease, whereas the other tumor was classified as a Papillary Urothelial Neoplasm of Low Malignant Potential (PUNLMP). None of the lesions recurred. Two patients were female and one was male. The ages at diagnosis were 13, 11, and 17, with a mean follow-up of 5.2 years (Range: 1.5-8.0 years). All specimens showed H-RAS G12V mutation, whereas they were characterized by wild-type FGFR3 and PI3K. Nuclear p53 was not detected, whereas PTEN and Rb expression were maintained. EGFR was homogenously expressed in the three cases, and Her2Neu was negative. The proliferation rate analyzed by Ki-67 expression was very low in all cases (<5%). Conclusions: Pediatric tumors may arise from a pathway that is not initiated by FGFR3 or p53 mutations, but by H-RAS mutations. This distinction may explain the relatively few recurrences seen in the pediatric population. Molecular investigation of larger series of pediatric tumors is warranted, and will aid in determining the surveillance and the clinical follow up, if any, needed in this rare entity.

scholarly journals Gastrointestinal Stromal Tumour (GIST): Experience on 20 Patients

2019 ◽  
Vol 13 (2) ◽  
pp. 66-69
Author(s):  
Swapan Kumar Biswas ◽  
Molla Sharfuddin Ahmad ◽  
ASM Tanjilur Rahman
Keyword(s):  
Imatinib Mesylate ◽  
Surgical Resection ◽  
Clinical Presentation ◽  
Risk Group ◽  
Abdominal Mass ◽  
Gastrointestinal Stromal Tumour ◽  
High Risk Group ◽  
Risk Category ◽  
Common Clinical Presentation

Gastrointestinal Stromal Tumours (GISTs) are a rare group of mesenchymal tumour arising in gastrointestinal tract. The clinicopathological features are variable and surgical resection with chemotherapy is the main modality of treatment. We retrospectively analyzed 20 different types of GIST patients over a period of 9 years to understand clinical presentation, pathological features, treatment and survival. The tumour was most commonly seen in the patients (75%) of age range of 30-60 years. Twelve (60%) were male and 8 (40%) were female patient. Forty percent of the tumours were located in the stomach followed by small intestine (35%) and omentum (20%). Abdominal mass (70%), abdominal pain (45%) and GIT bleeding were the common clinical presentation. The size of the tumours ranged from 3 to 22 cm. All patients of our series underwent surgical excision of tumour. NIH risk categorization showed 15 (75%) patients belong to low risk category, 2(10%) patients were of intermediate risk group and 3 (15%) were of high risk group. Out of 20 cases CD117 positivity was seen in 17 (85%) cases offered adjuvant Imatinib mesylate. No patient in our series offered neo adjuvant chemotherapy. Postoperative follow up was done 6 monthly. GIST's are most common non epithelial tumour of the GIT. It is common in 4th and 5th decades. Abdominal mass and abdominal bleeding are the most common clinical presentation. Stomach is the most common site. Surgical resection is the best modality of treatment. Imatinib mesylate is used for adjuvant therapy. Regular follow up helps in diagnosing disease recurrence. Faridpur Med. Coll. J. Jul 2018;13(2): 66-69

Experience with Management of Intracranial Arachnoid Cysts

2020 ◽  
Vol 82 (01) ◽  
pp. 043-052
Author(s):  
Chandrashekhar E. Deopujari ◽  
Salman T. Shaikh ◽  
Vikram S. Karmarkar ◽  
Amol Y. Sudke ◽  
Chandan B. Mohanty ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Age Groups ◽  
Arachnoid Cysts ◽  
Post Intervention ◽  
Shunt Insertion ◽  
Cyst Excision ◽  
Common Clinical Presentation ◽  
Surgical Options ◽  
Endoscopic Fenestration

Abstract Objectives The aim of this study was to analyze the demographics, clinical presentation, and surgical outcome of intracranial arachnoid cysts and to review the surgical options. Methods This is a retrospective observational study of 56 cases of symptomatic arachnoid cysts among all age groups treated between 2004 and 2020 at the Bombay Hospital, Mumbai. Endoscopic fenestration, microsurgical cyst excision, and shunt insertion were the interventions performed. Clinical presentation, cyst reduction post-intervention, and complications were studied. The follow-up period varied from 1 month to 16 years. Statistical analysis was done for 43 patients with a minimum of 3 years' follow-up. Results In all, 75% of patients were <18 years of age. Of these, the majority were between the age of 1 and 10 years. There were 14 cases of temporal, 13 cases of retrocerebellar, 10 cases of quadrigeminal cistern, and 7 cases each of interhemispheric and suprasellar arachnoid cysts. The most common clinical presentation was headache and vomiting. Concomitant hydrocephalus was seen on imaging in 24 cases. Endoscopic fenestration of cyst was the most routinely performed procedure (35 cases). Four patients of endoscopic fenestration underwent a redo endoscopic procedure on follow-up. Post-operative reduction in cyst size was found to be significantly better after endoscopic fenestration (p < 0.05). Conclusion Though the best available treatment for arachnoid cysts remains controversial, surgery has been found to be beneficial in symptomatic cases. Endoscopic fenestration is considered the first-line surgical option and it may be followed by shunt, if necessary. Shunts may be preferred in very young children where there is associated hydrocephalus/macrocephaly.

MO308COULD THE PRESENCE OF ANCAS IN IGA NEPHROPATHY WITH CRESCENTS HAVE A CLINICAL IMPLICATION?

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Zaira Castañeda Amado ◽  
Alejandra Gabaldon ◽  
María Teresa Sanz ◽  
Roxana Bury ◽  
Cinthia Baldallo ◽  
...  
Keyword(s):  
Renal Biopsy ◽  
Iga Nephropathy ◽  
Kidney Biopsy ◽  
Clinical Presentation ◽  
Fibrinoid Necrosis ◽  
Oral Steroids ◽  
Common Clinical Presentation ◽  
The Mean ◽  
End Stage

Abstract Background and Aims IgA nephropathy (IgAN) is the most common glomerulonephritis. The presence of ANCAs in this pathology represents a rare coincidence. However, it is not clear if the presence of IgA or IgG ANCAs in these patients could have clinical significance. We aim to describe the presence of IgA and IgG ANCAs in patients diagnosed with IgAN with crescents, and its possible clinical implications. Method Retrospective study from 2013 to 2020, it included all patients diagnosed by kidney biopsy of IgAN with extracapillary proliferation. Outpatient follow-up time was up to 24 months. Demographics and clinicopathologic data, ANCAs subtype, characteristics of the biopsy and treatment at the time of diagnosis/follow up was recollected. Results From 2013 to 2020, 17 adults were diagnosed with IgAN and extracapillary proliferation. 5 patients presented ANCAs, 3 (17%) were IgA ANCAs and 2 (11%) were IgG ANCAs. At diagnosis, the median age was 48 years old (27-75 years, sd. 15), with 9 women (52%). At the time of diagnosis, the most common clinical presentation was hypertension (71%). The laboratory analysis showed that median hemoglobin was 11.7 mg/dl (8.4-14.9 mg/dL, sd. 1.5), median creatinine was 2.2 mg/dL (0.55-5.7 mg/dL, sd. 1.4) and median proteinuria was 3.5 g/mgCr (0.1-12 g/mgCr, sd. 3.5). 7 patients (41%) presented extracapillary proliferation less than 25%, 7 patients presented it between 25% and 50%, and 3 patients (17%) had it in more than 50%. 5 (30%) patients presented fibrinoid necrosis. 1 (6%) patient needed renal replacement therapy upon admission. In terms of treatment, all patients with ANCAs IgAN received endovenous steroids and cyclophosphamide. The mean follow-up time was 6 months. Oral steroids (59%) and mycophenolate (41%) were the most frequent treatments. At six months, the median creatinine was 1.9 mg/dL (0.4-7, sd. 1.78) and the median proteinuria was 1.45 g/gCr (0.12-5.9, sd. 1.84 g/gCr). 3 patients developed end-stage chronic kidney disease and requiring substitute renal therapy; 4 patients died. Statistical analysis did not show differences in clinical characteristics, demographics, kidney function, proteinuria, need for renal therapy replacement or mortality according to the presence or subtype of ANCA. ANCA negative patients presented less than 25% of extracapillary proliferation in renal biopsy (p = 0.04). ANCA positive patients presented more fibrinoid necrosis than ANCA negative patients (p=0.01). Conclusion Given the limited size of our sample, our results do not allow us to be conclusive, showing no significant differences between the ANCA subtypes. However, from the point of renal biopsy, it is observed that patients with negative ANCAs present less extracapillary proliferation; and that patients ANCA positive presented more fibrinoid necrosis.

Pyeloplasty for pelviureteric obstruction junction obstruction

2019 ◽  
Vol 13 (3) ◽  
pp. 185-194
Author(s):  
Benjamin Starmer ◽  
Robin Weston ◽  
Stephen Bromage
Keyword(s):  
Computed Tomography ◽  
Minimally Invasive ◽  
Gold Standard ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Level Of Evidence ◽  
Diuretic Renography ◽  
Common Clinical Presentation ◽  
Key Questions

Pelviureteric junction obstruction (PUJO) is a common clinical presentation. Patients require investigation with biochemistry and imaging in the form of computed tomography and diuretic renography. The gold-standard pyeloplasty treatment is minimally invasive pyeloplasty. Here we discuss a typical presentation of PUJO and discuss key questions in the investigation, management and follow-up of this condition, including a review of the treatment options. Level of evidence: 3a

scholarly journals Immunocytochemical expression of Ki-67/p16 in normal, atypical, and neoplastic cells in urine cytology using BD SurePath™ as preparation method

CytoJournal ◽  
2019 ◽  
Vol 16 ◽  
pp. 26 ◽  
Author(s):  
Kirsten Margrethe Østbye ◽  
Mette Kristin Pedersen ◽  
Torill Sauer
Keyword(s):  
Urine Cytology ◽  
Low Grade ◽  
High Grade ◽  
Ki 67 ◽  
Additional Information ◽  
Additional Marker ◽  
Dual Positivity ◽  
Normal Controls ◽  
Dual Staining

Objective: The objective of this study was to investigate the expression of Ki-67/p16 in urothelial cells in cytological material. Materials and Methods: There were 142 urines including normal controls, anonymous rest urine, controls after treatment for urothelial carcinoma (UC) and newly diagnosed UC. Immunocytochemistry for ki-67/p16 dual staining kit was performed on all specimens. Results: Eight high-grade UC and six anonymous specimens showed dual positivity. None of the low-grade UC or the control specimens after treated UC showed dual staining. Fifteen of 84 (17.8%) symptomatic cases were negative for both markers, and 59/84 (70.2%) showed positivity for both but not dual staining. Twenty-seven of 84 cases were positive for either Ki-67 (n = 22) or p16 (n = 5). Normal controls and benign specimens were negative for p16. Conclusions: Co-expression of p16/Ki-67 in the same cells was found in 16.6% of the cases. All were high grade, and co-expression seems to have limited practical impact as an additional marker in urine cytology. Any positivity for p16 alone strongly indicates malignancy. Negative p16 accompanied by a positive Ki-67 rate at 5% or more could be considered as an additional marker for further clinical follow-up. Both markers, co-expressed and separate, can give additional information in follow-up patients after treatment for UC.

scholarly journals Posterior pituitary tumours: patient outcomes and determinants of disease recurrence or persistence

2021 ◽  
Author(s):  
Liza Das ◽  
Kim Vaiphei ◽  
Ashutosh Rai ◽  
Chirag Kamal Ahuja ◽  
Paramjeet Singh ◽  
...  
Keyword(s):  
Literature Review ◽  
Tumour Size ◽  
Disease Recurrence ◽  
Low Grade ◽  
Posterior Pituitary ◽  
Pituitary Tumours ◽  
Thyroid Transcription Factor 1 ◽  
S 100

Objective: Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor-1 (TTF-1) expression, according to the 2017 WHO classification. Though traditionally defined as low grade neoplasms, a substantial proportion of them show recurrence/persistence following surgery. Methods: We selected patients with PPTs in our cohort of 1760 patients operated for pituitary tumours over the past ten years. The clinical, radiological, hormonal, histopathological profiles and long-term outcomes of the three cases identified (two pituicytomas and one spindle cell oncocytoma, SCO) were analysed. Following a literature review, data of all published cases with documented TTF-1 positive pituicytomas and SCOs were analysed to determine the predictors of recurrence/persistence in these tumours. Results: Patients presented with compressive features or hypogonadism. Two had sellar-suprasellar masses. One had a purely suprasellar mass with a pre-operative radiological suspicion of pituicytoma. Two were operated by transsphenoidal surgery and one transcranially guided by neuronavigation. Histopathology confirmed spindle cells in a storiform arrangement and low Ki67 index. Immunohistochemistry showed positive TTF-1, S-100 expression and variable positivity for EMA, vimentin and GFAP. Re-evaluation showed recurrence/persistence in two patients. A literature review of recurrent/persistent pituicytoma (n=17) and SCO (n=9) cases revealed clinical clues (headache for pituicytomas, male gender for SCO), baseline tumour size (≥20.5mm with sensitivity exceeding 80%) and longer follow-up duration as determinants of recurrence/persistence. Conclusion: PPTs are rare sellar masses with quintessential TTF-1 positivity. Recurrent/persistent disease following surgery is determined by greater tumour size at baseline and duration of follow-up. This warrants intensive and long-term surveillance in these patients.

Perivascular Epithelioid Cell Tumor of the Urinary Bladder: A Systematic Review

2019 ◽  
Vol 28 (4) ◽  
pp. 393-400 ◽  
Author(s):  
Ameer Hamza ◽  
Charles C. Guo
Keyword(s):  
Urinary Bladder ◽  
Clinical Presentation ◽  
Epithelioid Cell ◽  
Cell Tumor ◽  
Small Subset ◽  
Perivascular Epithelioid Cell Tumor ◽  
Perivascular Epithelioid Cell ◽  
Common Clinical Presentation ◽  
Immunohistochemical Studies

Perivascular epithelioid cell tumor (PEComa) of the urinary bladder is a rare neoplasm showing distinct melanocytic and smooth muscle differentiation. We aimed to review the clinicopathologic features of bladder PEComa using all the available cases in the literature, along with 2 new cases from our database. The patients included 15 females and 15 males with a mean age of 39.2 ± 15.3 years. Painless hematuria was the most common clinical presentation. The tumors were usually well circumscribed with a mean tumor size of 4.4 ± 2.7 cm. Bladder PEComas demonstrated nests, trabeculae, or sheets of epithelioid cells with intermixed spindled cells and numerous thin-walled vessels. Immunohistochemical studies showed that the tumors were positive for HMB45 (27/27), cathepsin (4/4), SMA (20/22), and caldesmon (3/3) and were negative for pan cytokeratin (0/18) and EMA (0/4). Molecular studies revealed that PEComa was associated with the TFE3 (n = 3) and EWSR1 (n = 1) gene rearrangements. Treatment included partial cystectomy (n = 18), transurethral resection (n = 8), and radical cystectomy (n = 4). Twenty patients had no evidence of disease during a mean follow-up time of 19.4 ± 17.2 months. Two patients had recurrence, and 1 patient died of metastatic disease. In conclusion, bladder PEComas demonstrate distinct morphologic and immunohistochemical features. Although most tumors follow a benign course, a small subset may develop metastasis and cause death.

scholarly journals THYROGLOSSAL SINUS

2011 ◽  
Vol 18 (01) ◽  
pp. 93-96
Author(s):  
MUHAMMAD SAEED
Keyword(s):  
Thyroid Carcinoma ◽  
Clinical Presentation ◽  
Thyroglossal Cyst ◽  
Incision And Drainage ◽  
Anatomical Features ◽  
Common Location ◽  
Common Clinical Presentation ◽  
The Common ◽  
Rule Out

Objective: To assess demographic and anatomical features of thyroglossal sinus. Design: Descriptive. Setting: ENT department Allied Hospital Faisalabad. Period: From Jan 2005 to June 2010. Material and Methods: The patients were admitted through ENT out patient department. The data was collected on the basis of history, physical examination, investigations, management and follow up. Results: Total 60 patients 35 males (58%) and 25 females (42%). The majority of patients were from second decade of life 28 (47%). The most common location of thyroglossal sinus was thyrohyoid 55 (92%). The etiology of of thyroglossal sinus in majority of cases was iatrogenic 50 (83%). The common clinical presentation was discharging sinus in the neck 60 (100%). The histological diagnosis in all the cases was benign 60 (100%).All the patients were managed by Sistrunks operation 60 (100%).The recurrence was seen in 4 cases (07%). The incidence of thyroid carcinoma was 00%. Overall success rate was 93%. Conclusions: The prevalence of thyroglossal sinus is quite considerable. The majority of cases are iatrogenic which means that more awareness is required about diagnosis and proper management of thyroglossal cyst. The incision and drainage of thyroglossal cyst should be avoided to prevent the development of thyroglossal sinus. In all the cases the specimen should be sent for histopathology to rule out the thyroid carcinoma.

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