Poland syndrome

Poland''s syndrome is a rare congenital condition, characterized by the absence of the sternal or breastbone portion of the pectoralis major muscle, which may be associated with the absence of nearby musculoskeletal structures. We hereby report an 8-year-old boy with typical features of Poland syndrome, the first documented case from Uttar Pradesh, India.     

Cytological and immunocytochemical evaluation of thyroid and breast masses in patients with a previous neoplasm: case reports

The diagnosis of secondary tumours represents one of the most important fields in the application of fine needle aspiration cytology (FNAC). We studied two patients, one with a history of breast cancer and one with a previous tumour of the thyroid, who showed a second mass, in the thyroid and in the breast, respectively, during follow up. The aim of our study was to evaluate if cytology, performed on FNAC smears, may distinguish a metastatic lesion from a second primary tumour, or if further immunocytochemistry should be performed. Our data demonstrate that, while cytology may be indicative of a second primary tumour, the histotype should be confirmed by immunocytochemical staining.     

Diffuse large B cell lymphoma presenting as Horner's syndrome in a patient diagnosed with neurofibromatosis type 1: a case report and review of the literature

Introduction

Horner's syndrome has a variety of etiologies ranging from benign to serious life-threatening conditions and has been infrequently reported as a presenting symptom of patients with lymphoid neoplasms. Only one case of Burkitt's lymphoma presenting with toothache, paresthesia, and Horner's syndrome has been described and no case reports of diffuse large B-cell lymphoma as the etiology of Horner's syndrome currently exist in the literature. In addition, lymphoid neoplasms have rarely been reported to occur in patients with neurofibromatosis type 1 despite an increased risk of many types of cancer in such cases.

Case presentation

A 28-year-old Thai man presented with a progressively enlarged left supraclavicular mass together with a significant weight loss and night sweating for four months. He also noticed hoarseness and ptosis of his left eye associated with double vision for two months. Physical examination revealed large supraclavicular lymphadenopathy and Horner's syndrome (ptosis, miosis, and anhydrosis) on the left side of his face. A large mediastinal mass was clearly detected by chest X-ray and computed tomography and subsequent lymph node biopsy provided a diagnosis of diffuse large B-cell lymphoma. Interestingly, the patient was also definitely diagnosed with neurofibromatosis type 1 from multiple café au lait macules, axillary freckles, three neurofibromas, multiple Lisch nodules, and a history of affected family members. He subsequently received chemotherapy with a good response. Twenty-seven cases of various types of lymphoid neoplasms previously reported to occur in neurofibromatosis type 1 patients were also extracted from the literature. All cases were non-Hodgkin lymphoma and the major subtype was T-cell. Only nine cases were B-cell lymphoma. The majority of cases were young with a median age at lymphoma diagnosis of 9.4 years (range 1.1 to 77 years). Two-thirds of the cases were boys or men. Other concomitant malignancies were brain tumor, colorectal cancer, pheochromocytoma, and acute lymphoblastic leukemia.

Conclusions

We describe for the first time a case of diffuse large B-cell lymphoma that occurred in a neurofibromatosis type 1 patient with Horner's syndrome. Horner's syndrome can be an initial manifestation of diffuse large B-cell lymphoma. Patients who present with a classical triad of Horner's syndrome should always be fully investigated for lymphomatous involvement, especially in the thorax. The exact molecular mechanism for diffuse large B-cell lymphoma development in neurofibromatosis type 1 cases remains to be elucidated.     

Managing the risk of cancer in Cowden syndrome: a case report

ABSTRACT: INTRODUCTION: Cowden syndrome is a rare cancer predisposition syndrome inherited in an autosomaldominantfashion. The syndrome is characterized by hamartomatous polyps that affectmultiple organs: skin, mucous membranes, thyroid, breast, gastrointestinal tract,endometrium and brain. It is also associated with an increased risk of developing malignancyin many tissues but especially breast, thyroid and endometrium. CASE PRESENTATION: We present the case of a 30-year-old Tunisian woman with mental retardation who presentedto our facility with rectal hamartomatous polyps. Her medical history included fibrocysticdisease of the breast over the last three years. A physical examination revealed macrocephaly,hyperkeratotic papules on the mid-facial skin, palmoplantar keratosis and oral mucosalpapillomatosis. A breast examination revealed nodular breast tissue bilaterally and a diffusethyroid goiter. Our patient was clinically euthyroid. A total thyroidectomy was performed. Ahistopathologic examination revealed thyroid papillary carcinoma. A gastrointestinalevaluation revealed esophageal and gastric polyps. Biopsies showed hyperplastic andadenomatous lesions associated with Helicobacter pylori. A final diagnosis of Cowdensyndrome was made according to the syndrome testing criteria adapted by the US NationalComprehensive Cancer Network. A prophylactic bilateral mastectomy was proposed butrefused by our patient. Our patient was kept under surveillance for breast and colorectalmalignancies. CONCLUSIONS: Early and accurate diagnosis of Cowden syndrome is essential because it is a cancerpredisposition syndrome that carries an increased risk for developing malignancy in manytissues, especially breast and thyroid. For this reason, education regarding the signs andsymptoms of cancer is important. All patients must be screened for malignancies and optionsfor prophylactic mastectomy should be discussed. Guidelines for cancer screening includingsurveillance and management plans for these patients should be distinguished from those ofthe general population, and may lead to a more timely diagnosis and treatment of cancersassociated with this syndrome.     

Initial axillary staging of breast cancer using ultrasound‐guided fine needle aspiration: a liquid‐based cytology study

A. Schiettecatte, C. Bourgain, C. Breucq, N. Buls, V. De Wilde and J. de Mey
Initial axillary staging of breast cancer using ultrasound‐guided fine needle aspiration: a liquid‐based cytology study Objective: To evaluate the preoperative detection of axillary metastasis combining ultrasound (US)‐guided fine needle aspiration cytology (FNAC) and liquid‐based cytology (Surepath^®) to reduce sentinel node procedures. Methods: In total, 148 patients with clinically negative lymph nodes and no preoperative therapy were included. All patients underwent preoperative ultrasound of the axilla with FNAC if suspicious lymph nodes were found. Complete axillary lymph node dissection was performed at primary surgery when FNAC was positive. All other patients underwent a sentinel node procedure. Results: US‐guided FNAC of the axilla revealed metastasis in 34 (23.0%) of the 148 patients. These 34 patients were 53.1% of all patients (n = 64) with proven axillary lymph node involvement. In 66 patients (44.6%), both ultrasound and histopathology were negative. Overall sensitivity of US‐guided FNAC was 50.0%, specificity 100%, positive predictive value 100% and negative predictive value 70.2%. In T1 tumours, all patients referred for sentinel node procedure were node‐negative. The correlation between malignant FNAC and histopathology was 100%. US‐guided liquid‐based FNAC in patients with no clinically positive lymph nodes reduced the necessity for a sentinel node procedure by 23.0%. Conclusions: We advocate that US‐guided fine needle aspiration (FNA) combined with liquid‐based cytology of axillary lymph nodes should be included in the preoperative staging of breast cancer.     

Absence de fixation du gril costal: Diagnostic d’un syndrome de Poland par la TEMP-TDM osseuse

We report the case of a 37-year-old man, investigated for pains of the right upper limb impairing the hand, the wrist and the shoulder after a surgery for fracture of the radius and the scaphoid. The ^99mTc-HDP three-phase bone scintigraphy confirmed the diagnosis of acute phase of a reflex sympathetic dystrophy. The delayed images highlighted a focal absence of tracer uptake of the left anterior rib cage. The single photon emission computerized tomography guided by computerized tomography showed that it was related to the absence of the anterior part of the third and the fourth left ribs highlighting an aplasia of the left pectoralis major muscle. These anomalies led to the diagnosis of congenital malformation in connection with a Poland's syndrome. The differential diagnosis of this syndrome resulted in discussing the multiple etiologies of the photopenic lesions of the rib cage.     

Fine needle aspiration cytology: a survey of current European practice

Fine needle aspiration cytology (FNAC) is practised widely throughout Europe. The majority of countries have dedicated cytopathologists as well as histopathologists practicing cytology. Despite this, FNAC is performed mostly by clinicians and radiologists except in the larger centres with dedicated staff with a special interest in cytopathology. The advent of One-Stop diagnostic services and image-guided procedures are prompting further development of FNAC clinics where cytopathologists take their own samples, issue reports in the same clinical session and take extra material for ancillary tests to complete the diagnosis. The volume of FNAC work varies accordingly; in dedicated centres FNAC represents up to 80% of the workload whilst, in the majority of countries, it represents one quarter or less. Hence, the rate of inadequate FNAC varies widely, depending on the local sampling policies and the organ, but does not exceed 25% in any of the countries. The most sampled organs are breast and thyroid, followed by lymph nodes. Most countries have dedicated training in cytopathology for pathology trainees, the duration varying between 6 months and 2 years of the total training time. This discussion, focusing on European practices, highlights the heterogeneity of FNAC activity but also its success in many centres where it is practiced to a high standard, particularly in breast, thyroid and lymph node pathology. The relatively high rate of inadequate material in some centres reflects local policies and calls for greater uniformity of FNAC practice, particularly specimen sampling. To achieve this, the future direction should concentrate on specialist training, to include performing as well as interpreting FNAC, as part of the curriculum. Current emphasis on web-based training may not provide first hand experience of the FNAC procedure and should be supplemented by attending FNAC clinics and developing the technique to its full potential.     

Pneumothorax resulting from subclavian puncture: a complication of permanent pacemaker lead implantation

Pneumothorax is a mild complication during pacemaker lead implantation using the subclavian puncture technique. We report on five-year experience in 433 pacemaker lead implantation procedures in 379 patients. The cephalic vein route was solely used in twelve patients. Three procedures were performed over time in four patients and one patient needed four repetitive punctures for pacemaker lead implantation and replacement. Thus 421 punctures were carried out in 367 patients. Eleven case of pneumothorax were observed: in eight patients (1.9%) a partial pneumothorax occurred and in three patients (0.7%) the pneumothorax was nearly complete. In the latter patients a chest tube was inserted and hospital admission was prolonged for 3, 6 and 6 days, respectively. Old age with a corresponding abnormality in the form of chest deformation were predominantly found in the patients with this type of complication.     

Fine needle aspiration cytology of mammary hamartoma: a review of nine cases with histological correlation

Mammary hamartoma is a breast lesion rarely reported by fine-needle aspiration cytology (FNAC). We report on our experience of FNAC in nine cases confirmed by biopsy. We searched hospital case files for mammary hamartoma or similar lesions (fibrolipomas, lipomas, fibromas, etc.), and cases included were only those in which both FNAC and a histopathological study had been performed. The cytological features that were analysed included epithelial components, mesenchymal fragments and isolated cells dispersed in the background. The patients ranged in age from 25 to 58 years (mean 40 years), and the lesions were predominantly in the right breast and upper outer quadrant. The duration varied from 1 to 20 years. Mammographic features were characteristic revealing well-circumscribed masses of heterogeneous radiodensity and by ultrasonography were hypoechoic without calcification. Grossly, these lesions were oval to round, well-demarcated masses, ranging in diameter from 10 to 80 mm. The tumours were firm, rubbery and white, consisting largely of dense fibroconnective tissue with variable amounts of adipose tissue and glandular elements. Cytological samples showed two components, epithelial and mesenchymal. The cellularity was variable and was composed of lobular cells forming acini, ductal cells, occasional apocrine and foamy cells; myoepithelial cells and isolated naked nuclei were also observed. Adipose tissue and dense fibrous tissue were observed, occasionally with epithelial cells attached, and this finding was an important feature for diagnosis. We considered that the cytological findings could help to diagnose mammary hamartoma, FNAC making a rapid and very important technique for the diagnosis of this pathology.     

Metaplastic carcinoma of the breast in an HIV-positive patient: a case report

BACKGROUND: Metaplastic carcinoma of the breast is a rare neoplasm that causes diagnostic difficulty on fine needle aspiration smears. Breast carcinoma in HIV-infected patients occurs at a relatively early age, with increased bilateral disease, unusual histology, and early metastatic spread with a poor outcome. CASE: A case of metaplastic carcinoma of the breast arose in a 36-year-old woman who was seropositive for HIV. In the absence of a sarcomatous component and presence of obvious ductal differentiation on aspirates, a diagnosis of high grade infiltrating duct carcinoma, not otherwise specified, was made on fine needle aspiration cytology (FNAC). CONCLUSION: This case underlines the limitations of FNAC in the diagnosis of metaplastic carcinoma of the breast. It also shows that it is imperative to maintain a high index of suspicion for rare pathologies in immunocompromised patients.     

Fine needle aspiration cytology of metastatic choriocarcinoma presenting as a breast lump. A case report

BACKGROUND: While choriocarcinoma is a rapidly invasive, widely metastasizing malignancy, it responds well to chemotherapy, so it is important to obtain an early diagnosis. We report the fine needle aspiration cytology (FNAC) of a case of choriocarcinoma metastatic to the breast. CASE: A 48-year-old female presented with a cough, hemoptysis and epistaxis. Chest computed tomography revealed multiple nodules in both lung fields. Also, a firm, slightly tender mass in the lower outer quadrant of the left breast was palpated. The breast mass was clinically suspected to be a metastatic lung cancer. FNAC of the breast showed a malignant tumor that had been misdiagnosed as a metastatic non-small cell carcinoma of the lung. Histologic examination of a nasal biopsy revealed metastatic choriocarcinoma. CONCLUSION: The cytologic features of choriocarcinoma are quite characteristic, with side-by-side, malignant, mononucleated cells and multinucleated giant cells corresponding to cytotrophoblasts and syncytiotrophoblasts, respectively. The disease is possible to diagnose by a careful examination of FNAC samples.     

Never Out of the Woods: Onset of Events in Long QT Syndrome Late in Life Provoked by Atrial Arrhythmias

The assessment of risk in the asymptomatic patient with long QT syndrome can often be a challenging task, particularly when the available evidence is limited to relatively small retrospective registries, not to mention the need to consider the effect of individual patient factors which are often difficult to quantitate. We describe the relatively uncommon case of a man with a long-standing diagnosis of Long QT 2 syndrome who suffered his first cardiac event in his late 60''s, likely precipitated by the development of paroxysmal atrial tachycardia. A brief review of the available literature on risk assessment in adults with genetically confirmed long QT syndrome who have remained asymptomatic late into adulthood will follow the case.     

O‐6RESPECTIVE ROLES OF FINE NEEDLE ASPIRATION CYTOLOGY AND CORE BIOPSY IN DIAGNOSIS OF SYMPTOMATIC BREAST LESIONS

Introduction: To evaluate and compare the respective roles of fine needle aspiration cytology and core biopsy for diagnosis of symptomatic breast lesions. Methods: Retrospective study on 589 breast fine needle aspiration cytology (FNAC) cases and 88 core biopsies (CB) with no associated FNAC, performed between January and December 2004. A computer database was searched for initial results, subsequent investigations and outcomes. Results: Of the cases that had FNAC performed as an initial investigation, the final diagnosis was reached by FNAC alone in 81.8% of cases. Of these, 59.2% were benign, 6.1% malignant and 2.4% remaining suspicious with 14.1% inadequate samples. There were 31 cases reported as suspicious (C3/C4) on FNAC, of these 14% of C3 and all of C4 were malignant on CB. Of the 86 cases that had both FNAC and CB, CB improved on the FNAC diagnosis of malignancy in 19.8% of cases, half of which were considered inadequate on FNAC. The positive predictive value of malignant cases was 100%, and the negative predictive value 98%. The absolute sensitivity of FNAC in this study was 65% and complete sensitivity 72%. The false negative rate was 8% and false positive rate 0%. The diagnosis of 88 CB without FNAC showed 37.5% to be malignant and 60.2% as benign, with 2.3% as inadequate biopsies. Discussion: FNAC remains the first line investigation in symptomatic breast lesions. Its best use is in the diagnosis of benign disease which constitutes over two thirds of patients in our practice. In suspicious and clinically malignant lesions, it is complemented by CB which may provide additional information relevant to management. In conclusion, the majority benign findings in our patients who had CB without prior FNAC, does not justify the use of CB as a first line investigation. CB is indicated in cases of inadequate or suboptimal FNAC. The continuous use of suspicious categories (C3/C4) in breast cytology is justified by the subsequent outcomes, both benign and malignant.     

Malignancy Risk Analysis in Patients with Inadequate Fine Needle Aspiration Cytology (FNAC) of the Thyroid

Background

Thyroid fine needle aspiration cytology (FNAC) is the standard diagnostic modality for thyroid nodules. However, it has limitations among which is the incidence of non-diagnostic results (Thy1). Management of cases with repeatedly non-diagnostic FNAC ranges from simple observation to surgical intervention. We aim to evaluate the incidence of malignancy in non-diagnostic FNAC, and the success rate of repeated FNAC. We also aim to evaluate risk factors for malignancy in patients with non-diagnostic FNAC.

Materials and Methods

Retrospective analyses of consecutive cases with thyroid non diagnostic FNAC results were included.

Results

Out of total 1657 thyroid FNAC done during the study period, there were 264 (15.9%) non-diagnostic FNAC on the first attempt. On repeating those, the rate of a non-diagnostic result on second FNAC was 61.8% and on third FNAC was 47.2%. The overall malignancy rate in Thy1 FNAC was 4.5% (42% papillary, 42% follicular and 8% anaplastic), and the yield of malignancy decreased considerably with successive non-diagnostic FNAC. Ultrasound guidance by an experienced head neck radiologist produced the lowest non-diagnostic rate (38%) on repetition compared to US guidance by a generalist radiologist (65%) and by non US guidance (90%).

Conclusions

There is a low risk of malignancy in patients with a non-diagnostic FNAC result, commensurate to the risk of any nodule. The yield of malignancy decreased considerably with successive non-diagnostic FNAC.     

Fine needle aspiration cytology in the management of male breast masses. Nineteen years of experience.

OBJECTIVE: To determine the utility and accuracy of fine needle aspiration cytology (FNAC) as well as its sensitivity, specificity and predictive value in the diagnosis of male breast masses. STUDY DESIGN: Data on male breast FNAC done between 1978 and 1997 were retrieved from the records of the cytopathology laboratory. FNAC diagnoses were categorized as positive, negative, inconclusive or unsatisfactory. Cytohistologic correlation was done with data from histopathology records. Sensitivity, specificity, diagnostic accuracy and predictive values of FNAC were calculated using standard statistical methods. RESULTS: Five hundred seven of 13,175 patients undergoing breast FNAC were males. Of them, 393/507 had satisfactory aspirates. Of these, 70 were positive (13.8%), 295 were negative (58%), and 29 were inconclusive (5.7%). A total of 114 FNACs (22.5%) were unsatisfactory. Histopathology was available in 97/507 cases. There were no false positive or false negative diagnoses. FNAC had a sensitivity, specificity and diagnostic accuracy of 100% for male breast lesions. CONCLUSION: This large study shows that FNAC is a very accurate tool for diagnosis of male breast lesions. It is highly sensitive and specific, with good cytohistologic correlation. FNAC should therefore be an integral part of the primary assessment of breast lumps in males.     

Towards a more rapid diagnosis of rapidly progressive glomerulonephritis.

An attempt was made to provide simple practical guidelines to alert general practitioners to the diagnosis of rapidly progressive glomerulonephritis and lead to early referral to hospital. The duration of illness before referral to this hospital and its effect on outcome in patients with crescentic nephritis were assessed retrospectively from the case notes of 24 patients referred over two years. Four patients had Goodpasture''s syndrome, 11 Wegener''s granulomatosis, seven microscopic polyarteritis, and two idiopathic progressive glomerulonephritis. The duration of symptoms before referral to the local hospital was similar in the four groups of patients and varied from one week to 28 months (mean 10 months). The duration of stay in the local hospital was two, nine, 11, and 180 days in the patients with Goodpasture''s syndrome and a mean of four days (range one to eight) in those with Wegener''s granulomatosis and 10 days (one to 18 days) in those with microscopic polyarteritis. In the local hospital the diagnosis was based on the results of renal biopsy and detection of antibodies to glomerular basement membrane in two patients with Goodpasture''s syndrome and on the results of renal biopsy in seven of the other patients aided by the detection of antibodies to the cytoplasm of neutrophils (ANCA) in 10. Three of the 24 patients died and four required maintenance haemodialysis. Patients who present to their general practitioners with persistent non-specific symptoms should have a urine dipstick test and then blood tests and emergency referral to hospital if necessary. Hospital physicians should be aware of the speed and accuracy with which current assays can confirm a diagnosis of rapidly progressive glomerulonephritis.     

Primary non-Hodgkin's lymphoma of the breast: a case report

Extranodal non-Hodgkin's lymphoma (NHL) of the breast is a rare entity. It represents 0.04-1.1% of malignant tumors of the breast. 1.7-2.2% of extranodal lymphomas and 0.7% of all NHL. However, primary NHL (PNHL) is the most frequent hematopojetic tumor of the breast. CASE: A 23-year-old woman presented with a mass in the left breast for 3 months followed by enlarged left axillary lymph nodes. Mammography showed a diffuse increase in the density of the left breast. Other investigations were unremarkable. Both fine needle aspiration cytology (FNAC) and histopathology were diagnostic of NHL. Immunohistochemistry was confirmatory of NHL, diffuse large cell type, of B-cell lineage. CONCLUSION: Primary and secondary lymphomas of the breast, though rare, should be considered in the differential diagnosis of breast malignancies. PNHL of the breast is usually right sided, but this patient had left breast involvement. Diagnosis by FNAC was successful as the cytologic picture is similar to that of any other lymphoid or extranodal NHL. When histopathology and immunohistopathology are conclusive, FNAC, supplemented by immunocytochemistry, can be applied as a simple, reliable and cost-effective tool in the early diagnosis of breast lymphomas.     

中耳术后并发耳廓软骨膜炎致耳廓畸形——1例病例报告及文献回顾

目的:通过报道1例中耳术后并发耳廓软骨膜炎致耳廓畸形患者的病历资料,以加强临床医师对该疾病的认识与防范。方法:对本例患者的病历资料进行回顾性阐述,结合该患者的临床特点揭示中耳术后并发耳廓软骨膜炎的发生发展过程,并通过文献回顾阐述该疾病的发病原因、病原学特点及治疗方法。结果:耳廓软骨膜炎是耳科手术术后较为棘手但相对少见的并发症,最为常见铜绿假单胞杆菌感染所致。治疗方法视患者病情而定,包括抗菌药物应用、脓肿切开引流、病变软骨切除术。对于合并糖尿病的老年患者中耳术后更易引发耳廓软骨膜炎,且疗程更长、预后更差。结论:中耳术后并发耳廓软骨膜炎临床需警惕,对合并糖尿病的老年患者应多加防范;早诊断,早治疗,避免增加患者痛苦、加重其经济负担,并与患者做好充分沟通,避免医疗纠纷的发生。