Pitfalls in Portacath location using the landmark technique: case report

A 34 year old woman diagnosed with breast cancer and liver metastases underwent a left subclavian Portacath insertion. During the procedure, the clinical features and the findings of intra-operative investigations provided conflicting evidence of the catheter position. This report highlights the potential difficulties in establishing long-term central venous access, the limitations of common investigations and safety issues relating to the process of subclavian line insertion.     

Cytologic diagnosis of ocular melanocytoma: a case report

BACKGROUND: Pigmented lesions of the eye represent a challenging field from both clinical and pathologic approaches. The importance of a correct diagnosis in this case is enhanced by the delicate structures involved and their difficult accessibility. CASE: We report a case of a 51-year-old man with acute vision loss and the feeling of a foreign body in the left eye diagnosed with vitreous hemorrhage. A small, pigmented lesion in the proximity of optic nerve head was detected. After a 9-year follow-up, a definitive diagnosis of melanocytoma was achieved in vitrectomy cytology. Smears showed a population of plump, cohesive melanocytes and elongated cells with cytoplasmic melanin and uniform rounded nuclei. No change in the lesion has occurred 3 years after vitrectomy. CONCLUSION: Fine needle aspiration proved to be helpful and reliable for the correct diagnosis of melanocytoma, which does not require additional treatment.     

Cytologic diagnosis of tumoral calcinosis: a case report

A 55-year-old male with end-stage renal disease on hemodialysis presented with neck pain of 1 year's duration. A computed tomography (CT) scan was performed as part of his workup, and a posterior cervical neck mass was detected. CT-guided fine needle aspiration was performed with an immediate cytologic interpretation of tumoral calcinosis. On air-dried Diff-Quik and alcohol-fixed Papanicolaou-stained smears, the specimen demonstrated coarse-to-fine calcific debris. A final diagnosis of tumoral calcinosis was rendered. A literature search revealed that this diagnosis is rarely made by touch imprint cytology of core needle biopsy and/or needle aspiration cytology, although it can be a relatively easy and straightforward diagnosis.     

Pitfalls in the diagnosis of acromegaly

Acromegaly is a disfiguring and disabling illness which, when inadequately treated, reduces life expectancy. An implication of the ability to offer effective treatment is the increased onus on physicians of all sorts to ensure acromegaly is diagnosed and treated as early as possible. To this end, criteria for the diagnosis of acromegaly have been proposed in the consensus statement of Giustina et al. However, other data suggest that the proposed criteria are not rigorous enough and strict adherence to the guidelines would result in failure to diagnose a significant number of patients. A review of published experience suggests that the combination of a GH nadir during an oral glucose tolerance test of <0.25 microg/l plus a normal age-related insulin growth factor-I level makes the diagnosis of acromegaly extremely unlikely.     

Diagnosis of human neurocysticerocosis in endemic countries: a clinical study in Honduras

With the purpose of evaluating the available methodology for neurocysticercosis (NCC) diagnosis, 60 neurological patients were studied during a 4-year period in Honduras. Neurological evaluation, Computed Tomography (CT), cysticercosis Enzyme-Linked Immunoelectrotransfer blot (EITB) assay, electroencephalographic studies, and collection of epidemiological information were performed to assess a final diagnosis. The presenting clinical manifestations were: epileptic seizures (52%), headache without intracranial pressure (27%) and intracranial hypertension (10%). A protocol for the diagnosis of NCC is suggested. According to this protocol, patients with active (live) cysticercus and/or antibodies in Cerebrospinal fluid (CSF) were diagnosed as definitive cases of NCC, whereas those with only brain calcifications were diagnosed as probable cases. NCC diagnosis was definitive in 14 (23%) patients, probable in 32 (54%) and ruled out in 14 (23%). Of the patients with epileptic seizures, six (19%) had definitive and 20 (65%) had probable NCC. Overall seropositivity was 28%. EITB positivity varied from 14 to 100%, and from 20 to 35% in definitive and probable cases of NCC, respectively. When compared to CT, EITB overall sensitivity for definitive, active cases, was 50% in serum and 63% in CSF. These results suggest that brain images combined with neurological evaluation remains the best approach for neurocysticercosis diagnosis, and that EITB, even though its variable sensitivity, offers valuable information, especially if performed in CSF.     

Cytologic diagnosis of hemophagocytic lymphohistiocytosis in ascitic fluid: a case report

BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome, is a rare, fatal hematopoietic disease. Its cytologic features may be subtle because the abnormal histiocytes may not be recognized if one is not aware of this entity. We report a case of HLH involving the ascitic fluid. CASE REPORT: A 73-year-old man developed weakness, lethargy, decreased appetite and progressive shortness of breath after a cholecystectomy. Physical examination revealed hypotension, tachycardia and chest dullness with decreased breath sounds bilaterally. Radiologic examination revealed bilateral pleural effusions. The patient accumulated fluid in the peritoneal cavity, lungs, retroperitoneum and mediastinum. Bone marrow biopsy showed abundant histiocytes infiltrating the marrow cavity, and many of these histiocytes contained cellular debris. A diagnosis of HLH was therefore made. The abdominal paracentesis specimen contained many similar histiocytes exhibiting erythrophagocytosis and lymphophagocytosis. These abnormal histiocytes were positive for CD68 and negative for AE1/AE3, confirming the diagnosis of HLH. The patient died soon after from disseminated aspergillosis. CONCLUSION: HLH is cytologically characterized by the presence of abnormal histiocytes with ingested cellular debris. In serous effusions they should not be confused with mesothelial cells. Immunohistochemical studies may help confirm the diagnosis.     

An interesting diagnosis for a presacral mass: case report

A presacral mass can present a diagnostic dilemma for the surgical oncologist. Differential diagnoses include congenital causes such as teratoma or chordoma, neurological causes such as neurilemoma or neurofibroma or other malignancies such as lymphoma or sarcoma. Diagnosis usually requires imaging such as CT and MRI and tissue biopsy. We present an unusual cause of a presacral mass being extramedullary haematopoiesis, found incidentally in a 71 year old female. Extramedullary haematopoiesis is defined as the production of myeloid and erythroid elements outside of the bone-marrow. This diagnosis is extremely rare in the presacral area especially in a patient with no haematological abnormalities. A review of the literature is presented.     

Cytomorphologic diagnosis of malignant lymphoma arising in the heart: a case report.

BACKGROUND: Primary malignant lymphoma of the heart is extremely rare. Because its clinical signs and symptoms are typically nonspecific, it is often very difficult to detect cardiac involvement while the patient is alive. We describe a case of malignant lymphoma involving predominantly the heart and pericardium and diagnosed by pericardiac effusion cytology antemortem. CASE: An 83-year-old woman presented with dyspnea on exertion. Echocardiography revealed a low-echoic tumor mass close to the right ventricular wall and massive pericardiac effusion. Diagnosis of diffuse large B-cell lymphoma was made by cytomorphologic examination and flow cytometry of the tumor cells obtained from the effusion. Although chemotherapy was instituted immediately, the patient died of progressive heart failure. Diffuse large B-cell lymphoma predominantly involving the intracardiovascular region was confirmed at autopsy. CONCLUSION: From the experience in this case, we conclude that cytopathologic examination of sonographically guided aspiration of the cardiovascular region is very useful for antemortem diagnosis of primary malignant lymphoma of the heart.     

Pitfalls in the diagnosis of malignant melanoma

The histological appearance of benign melanocytic naevi and malignant melanomas can be variable, causing in a significant number of cases severe differential diagnostic problems. The early, thin (less than 1 mm) melanomas have to be differentiated from naevi containing dominant junctional or lentiginous component or pagetoid melanocytosis and from some epithelial tumours, while in cases of thick lesion the diagnosis of thick melanoma, Spitz naevus, deep penetrating naevus or cellular blue naevus should be considered for example. The morphology of the so-called atypical Spitz naevus and atypical pigmented spindle cell naevus show overlapping with malignant melanoma and sometimes in these cases the biological behaviour cannot be assessed. The variable appearance of malignant melanoma is illustrated by the fact that different superficial soft tissue tumours with epithelioid and/or spindle cells or with pigment can mimic it. The rare balloon cell and signet ring cell melanoma is a mimicker of primary or metastatic carcinoma and the desmoplastic variant is often misdiagnosed as benign mesenchymal lesion. Lymph node metastasis of melanoma, when the primary tumour is not known, may raise the possibility of interdigitating reticulum cell tumour or anaplastic large cell lymphoma.     

Intraoperative cytologic diagnosis of unsuspected cardiac myxoma: a case report

BACKGROUND: Atrial myxoma is the most common primary intracardiac tumor. The diagnosis is generally primary intracardiac tumor, based on classical clinical findings coupled with echocardiographic or magnetic resonance image findings demonstrating a cardiac mass. CASE: Unsuspected atrial myxoma was found in a woman who had been diagnosed with invasive lobular carcinoma of the breast. The echocardiographic findings in the presence of fever favored a clinical working diagnosis of infective endocarditis complicating a suspected cardiac metastasis. While intraoperative frozen section examination could not rule out metastatic invasive lobular carcinoma, cytologic touch imprint findings were diagnostic of myxoma. This appears to be the first report of concurrent breast carcinoma and atrial myxoma. To our knowledge, this is also the first report of intraoperative cytologic diagnosis of cardiac myxoma. CONCLUSION: In myxoma cases with a complicated clinical setting in which frozen section examination may be equivocal, intraoperative cytologic examination may be a useful diagnostic tool.     

Cytologic diagnosis of small cell anaplastic hepatoblastoma: a case report

BACKGROUND: Small cell anaplastic hepatoblastoma (HB) is the least common subtype of HB. There are few articles in the literature describing the cytologic characteristics of this rare subtype. CASE: A 5-year-old girl present with a progressively enlarging abdominal mass. Ultrasound examination revealed the mass to be arising within the right lobe of the liver. Fine needle aspiration (FNA) of the mass revealed primitive cells with a high nuclear/cytoplasmic ratio and hyperchromatic, ovoid nuclei in poorly cohesive clusters as well as dispersed singly. These cells closely resembled those of small round cell tumors of childhood. CONCLUSION: The cytologic differential diagnosis of undifferentiated HB must include small round cell tumors of childhood. With knowledge of the typical cytomorphologic appearance of HB in association with clinical and radiologic information, one can offer a reliable preoperative diagnosis on FNA.     

Cytopathologic and genetic diagnosis of pulmonary amebiasis: a case report

BACKGROUND: Amebiasis is a parasitic infection with Entamoeba histolytica. Pulmonary amebiasis is rare since the infection is commonly manifested as amebic colitis or liver abscess. Most pleuropulmonary amebiasis is seen in patients with amebic liver abscesses. A pulmonary amebic lesion without either a liver abscess or amebic colitis is extremely rare. Thus, reported cases of sputum cytologic diagnosis of a pulmonary amebic lesion from a patient without a liver abscess are also very rare. CASE: A 53-year-old man presented with a dry cough and mild fever. Chest radiography revealed an abnormal solitary mass lesion in the right upper lung field. The clinical diagnosis was a bacterial lung abscess. Sputum cytologic examination demonstrated many trophozoites of E. histolytica. Following sputum cytodiagnosis, serologic tests revealed a slightly high but almost normal titer of IgG antibodies to E. histolytica, indicating the possible presence of the pathogen. Polymerase chain reaction (PCR) using E. histolytica-specific primers for DNA extracted from the sputum sample revealed specific DNA product. CONCLUSION: Pulmonary amebiasis without either a liver abscess or amebic colitis must be distinguished from bacterial abscesses and neoplastic disease. A sputum cytologic examination combined with PCR for DNA extracted from a sputum sample is a good approach to the diagnosis of a pulmonary amebic abscess.     

Pitfalls in the genetic diagnosis of hereditary hemochromatosis

The widespread use of the genotype assay that identifies the common C282Y mutation in the HFE gene has allowed an earlier diagnosis to be made in many subjects. A significant number of these patients may have no evidence of phenotypic disease and have a normal serum ferritin level. This phenomenon is more common when the genotype assay is used to screen populations rather than higher-risk groups such as family members of a proband with hereditary hemochromatosis. Moreover, patients with significant iron overload may be wild type for the C282Y mutation and have no other demonstrable mutation of the HFE gene. The HFE genotype assay has recently been found to give a false-positive C282Y homozygous result in half of the subjects in one population screening study due to the presence of a single nucleotide polymorphism (SNP) that interfered with primer binding in the PCR assay. The problem may be overcome by using alternate primers. A number of other groups have confirmed the finding but in a much smaller number of subjects, whereas others found that their assays were not affected by the SNP. The use of the HFE genotype assay as the sole diagnostic criterion for hereditary hemochromatosis is not recommended. The genotype assay should be used as an adjunct to the established methods of demonstrating iron overload and be viewed as a predictor of either the presence of iron overload or the subsequent development of iron overload during an individual's lifetime.     

Pitfalls in the diagnosis of leg pain.

Problems may confront the practitioner in the diagnosis of leg pain related to exercise. The diagnostic features of the history and the physical examination that will help to elucidate the various causes of leg pain are outlined in this article, and the necessity for re-examination of the patient after a period of exercise is stressed. In most patients the diagnosis can most easily be made by means of clinical methods, without recourse to special investigations.     

Late diagnosis of a neglected cervical carcinoma in an elderly woman: a case report

We report the case of an 88-year-old, Greek patient who was referred to our department with a bleeding mass that occupied her entire vagina. This exophytic tumor had extensive ulcerated areas and originated from the cervix. The biopsies taken from the mass confirmed it to be squamous cell carcinoma. Despite the giant size of the tumor, the parametria and middle and lower vagina were not infiltrated. Rather, the neglected mass created a severe septic condition that was progressing to disseminated intravascular coagulation DIC status. Because of the patient's advanced age and critical condition, we performed a "toilet" operation to remove the tumor mass. We subsequently administered radical radiation therapy with satisfactory results.     

The role of laparoscopy in the diagnosis and treatment of peritoneal carcinomatosis: a case report

A patient presented with deep venous thrombosis and an elevated CA-125 level, but normal pelvic ultrasound and abdominal and pelvic CT scans. Laparoscopy revealed diffuse carcinomatosis and a diagnosis of stage IIIc, poorly differentiated epithelial ovarian carcinoma was made. Laparoscopy may provide an alternative means of diagnosis when conventional imaging fails, and may facilitate the placement of catheters for subsequent intraperitoneal therapy.     

Advanced adenoma diagnosis with FDG PET in a visibly normal mucosa: a case report

A 56 year old aromatherapist presented with advanced renal failure following chronic coal tar creosote vapour inhalation, and a chronic tubulo-interstitial nephritis was identified on renal biopsy. Following dialysis dependence occult inhalation continued, resulting in seizures, ataxia, cognitive impairment and marked generalised cerebral atrophy. We describe for the first time a case of creosote abuse by chronic vapour inhalation, resulting in significant morbidity. Use of the polycyclic aromatic hydrocarbon-containing wood preservative coal tar creosote is restricted by many countries due to concerns over environmental contamination and carcinogenicity. This case demonstrates additional toxicities not previously reported with coal tar creosote, and emphasizes the health risks of polycyclic aromatic hydrocarbon exposure.