T-cell depleted bone marrow transplantation for plasma cell myeloma. Report of a case and review of the results of BMT for myeloma

A 37-year-old male patient with advanced refractory plasma cell myeloma underwent T-cell depleted bone marrow transplantation (BMT) after 7 years of active disease previously treated with combination chemotherapy and irradiation. After the BMT there was marked clinical improvement and the patient is currently in good clinical condition two years after the BMT was performed. However, residual myeloma cells are still seen in the marrow and stable levels of paraprotein are still present in the serum. No GVHD was encountered after BMT. The problems of BMT in myeloma are discussed with a review of the current pertinent literature.     

Townes-Brocks syndrome. Report of a case and review of the literature

The authors report a new case of Townes-Brocks syndrome with cardiac defect, ossicular anomalies and dominant transmission. The intrafamilial variability of the phenotype and the difficulty of diagnosis in isolated cases are underlined.     

Mixed medullary-follicular thyroid carcinoma. Report of a case and review of the literature

OBJECTIVE: The aim was to describe the case of a female patient with a mixed medullary-follicular thyroid carcinoma. METHODS: The patient underwent thyroidectomy for the treatment of multinodular goiter. A tumor was found which exhibited the features of a mixed medullary-follicular thyroid carcinoma. Immunohistochemistry was performed. RESULTS: Immunohistochemistry was positive in the area of the carcinoma for calcitonin and thyroglobulin. She developed extensive metastatic deposits in the bones of the pelvis and in the calvarium causing hyperthyroidism. CONCLUSION: A patient with a mixed medullary-follicular thyroid carcinoma is described, who had elevated levels of both calcitonin and thyroglobulin and developed metastatic deposits, which could produce thyroid hormones.     

Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.     

Plasmacytoid transitional cell carcinoma. Report of a case with initial presentation mimicking multiple myeloma.

The case of a 63-year-old man with a previously undescribed morphologic variant of transitional cell carcinoma of the urinary bladder is reported. The patient initially presented with multiple lytic bony metastases of the ribs and skull. Aspiration biopsy of one of the lytic lesions of the skull showed tumor cells with a striking plasmacytoid appearance, similar to the plasma cells seen in myeloma, leading to an initial observer's diagnosis of multiple myeloma. Subsequently, a bladder tumor with the same cytomorphology was found; immunohistochemical and ultra structural studies performed on the aspirated material and on the bladder biopsy specimen clearly established the epithelial nature of this neoplasm.     

Candida parapsilosis meningitis in a patient with AIDS. Report of a case and review of the literature

BackgroundCandida parapsilosis is an important species in the genus Candida that plays a significant role in hospitalized patients with nosocomial infections. In patients with HIV infection or AIDS, central nervous system involvement by Candida species is exceptional.Case reportHere we report a case of an acute meningoencephalitis due to C. parapsilosis in an adult patient with AIDS. We describe the clinical manifestations, the diagnosis methods, antifungal therapy and outcome.ConclusionsC. parapsilosis is uncommonly reported as a cause of meningitis in AIDS patients. A higher index of suspicion and culture is necessary to confirm the diagnosis of candidal meningoencephalitis.     

Fine needle aspiration cytology of granulomatous mastitis. Report of a case and review of the literature

A case of granulomatous mastitis diagnosed by fine needle aspiration (FNA) cytology alone is reported. A 24-year-old pregnant woman presented with a six-week history of a rapidly enlarging breast mass, considered clinically to be malignant. The FNA smears contained numerous aggregates of epithelioid histiocytes admixed with Langhans' and foreign-body giant cells, lymphocytes, neutrophilic leukocytes and apoptotic debris, leading to a diagnosis of granulomatous mastitis. The features of granulomatous mastitis and its differential diagnoses are discussed.     

Extra-skeletal multiple myeloma presenting with an atrial mass: a case report and a review of the literature

ABSTRACT: INTRODUCTION: Extraskeletal presentation at diagnosis or during the course of multiple myeloma is a rareevent. The prognosis is usually very poor. At the moment there is no agreed gold standard forthe treatment of this presentation. CASE PRESENTATION: A 79-year-old Caucasian woman was treated at our hospital for right atrial myelomalocalization. Our patient showed the following signs and symptoms of congestive heartfailure: dyspnea, hypotension, cyanosis and facial edema. Surgery was not consideredfeasible due to the extent of the disease. Our patient underwent external-beam radiationtherapy using an intensity modulated technique, thus obtaining a persistent completeremission. Our patient has been in continuous complete local remission for 25 months sincethe end of radiotherapy. CONCLUSION: The role of radiotherapy is not defined in multiple myeloma with extraskeletal presentation.Our regimen seems to be effective in controlling the disease in this patient.This case report adds to the existing literature as it describes an unusual presentation of thedisease and a new therapeutic approach to this rare presentation of multiple myeloma.     

Thyromegaly secondary to simultaneous papillary carcinoma and histiocytosis X. Report of a case and review of the literature

The cytologic and histologic findings are reported in a case of papillary carcinoma arising within a thyroid gland pathologically enlarged by histiocytosis X. Fine needle aspiration (FNA) biopsies of a thyroid nodule in a patient with longstanding histiocytosis X produced a scanty amount of colloid, a moderately dense mixed inflammatory infiltrate and numerous small papillary fragments lined by cuboidal-to-columnar cells. Both the inflammatory cells and the epithelial cells showed nuclear grooves; the two populations of neoplastic cells were distinguished, and the correct diagnosis of the nodule was made, by recognizing the greater amount of granular cytoplasm of the mononucleated Langerhans' cells. The rare involve-of the thyroid by histiocytosis X is reviewed; this case, which appears to be the first reported instance of the co-occurrence of histiocytosis X and papillary carcinoma of the thyroid, indicates that patients with histiocytosis X should be observed for the development of thyroid carcinoma and that FNA biopsy can make the distinction between the two conditions.     

Apatinib for heavily treated patients with non-small cell lung cancer: Report of a case series and literature review

Although many strategies have been developed for non-small cell lung cancer (NSCLC), more secondary and further treatments are needed due to drug resistance or tumor recurrence. Apatinib is a novel oral antiangiogenic agent and in this study, we aim to investigate the clinical value of apatinib in heavily pretreated NSCLC. Here, we reported the characteristics, efficacy and adverse events of three patients treated with apatinib (500?mg/day). We also summarized the currently available evidence and ongoing clinical trials regarding the use of apatinib in NSCLC. Two cases of adenocarcinoma and one case of squamous cell carcinoma were treated with apatinib due to disease progression after previous treatments of chemotherapy and epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI). All patients responded to apatinib rapidly and underwent drug resistance shortly afterwards. The patient with squamous cell carcinoma died of hemoptysis. Other adverse events were acceptable. All previous relevant studies were compared and showed similar results but a longer progression-free survival. Additionally, ongoing clinical trials were systematically searched and listed. In conclusion, apatinib shows some efficacy in heavily treated NSCLC and generally tolerable toxicity in non-squamous NSCLC. More solid evidence will be accessible in near future.     

Mycetoma caused by Exophiala jeanselmei. Report of a case successfully treated with itraconazole and review of the literature

We report a case of black grain mycetoma in a 74-years-old man who presented with a 50-yr. history of sinus-tract formation in the right foot. This is the first case of an Exophiala jeanselmeimycetoma successfully treated with itraconazole. In addition a review of the literature on this subject was done.     

Granular cell tumour of the soft tissues: a case report and literature review

Granular cell tumours (GCT) of the soft tissues are rare benign tumours but some time may be difficult to distinguish from malignant neoplasms. It is important that clinicians are aware of their existence. We present a new case of GCT of the soft tissues followed by a brief review of literature.     

Anti-Ri-associated paraneoplastic cerebellar degeneration. Report of a case and revision of the literature

Paraneoplastic cerebellar degeneration associated with anti-Ri antibodies mainly presents with opsoclonus-myoclonus-ataxia. We report here the case of a patient with anti-Ri-antibody paraneoplastic syndrome, who presented four years after treatment for small-cell lung cancer (SCLC) with oscillopsia and gait disorder. On neurological examination vertical nystagmus, ataxic gait and postural tremor of all four limbs was detected. He died one year after the onset of the symptoms because of a acute exacerbation of his severe chronic obstructive pulmonary disease. No SCLC relapse or new cancer has been detected during the one-year follow-up period.To our knowledge, our patient is the first case of anti-Ri associated disorder with oscillopsia and vertical nystagmus as the initially prominent clinical features. The findings of this case study support the variability of anti-Ri-antibody-associated paraneoplastic syndrome. Further studies must be directed to better characterize the mechanisms underlying this syndrome. Finally, paraneoplastic neurological syndromes should be kept in mind also when a neoplastic disease is not demonstrated.     

Disseminated histoplasmosis with lesions restricted to the larynx in a patient with AIDS. Report of a case and review of the literature

Histoplasmosis is an endemic and systemic mycosis, caused by the dimorphic fungus Histoplasma capsulatum var capsulatum. Disseminated disease in immunocompromised patients generally results from the reactivation of latent foci after a prolonged period of asymptomatic infection. We report a case of laryngeal histoplasmosis as the unique clinical manifestation of a progressive form of the disease in a patient with advanced HIV/AIDS disease. Histopathological analysis of laryngeal biopsy smears revealed granulomas containing Histoplasma-like organisms. Treatment with amphotericin B followed by itraconazole resulted in complete remission of laryngeal lesions. To our knowledge, this is the third case report of laryngeal histoplasmosis in a patient with AIDS.     

Primary squamous cell carcinoma of the pancreas: a case report and review of the literature

ABSTRACT: INTRODUCTION: Primary squamous cell carcinoma of the pancreas is a rare tumor with poor prognosis and is found in the literature only as case reports. The optimal management course remains poorly defined. We present a case of primary basaloid squamous cell carcinoma of the pancreas metastatic to the liver, which was treated with surgery and systemic chemotherapy. Our patient survived for 15 months: the longest survival reported in the literature to date. CASE PRESENTATION: A 70-year-old Caucasian man presented to hospital with a three-month history of weight loss, pruritus and icterus. Imaging studies confirmed the presence of an operable mass lesion in the head of the pancreas. Following a pancreaticoduodenectomy, histology results led us to make a diagnosis of squamous cell carcinoma. Postoperative restaging showed multiple metastases in the liver. He underwent palliative systemic chemotherapy with cisplatin and 5-fluorouracil achieving partial response and an excellent quality of life. He then went on to start second-line chemotherapy, but unfortunately died of sepsis soon thereafter. CONCLUSIONS: This case report emphasizes that achievement of a worthwhile objective and symptomatic palliative response is possible using platinum-based chemotherapy in squamous cell carcinoma of the pancreas.