A case representing coexistence of acute myeloblastic leukemia and dedifferentiated liposarcoma: the possible role of chemotherapy in triggering dedifferentiation

Acute myelogenous leukemia (AML) is a hematological disorder that is characterized by an abnormal proliferation of immature myeloid cells. Dedifferentiated and well-differentiated liposarcomas are the two pathological subtypes of liposarcoma, based on the WHO classification. Transition from well-differentiated to dedifferentiated liposarcoma is a well-recognized phenomenon. Well-differentiated tumors are known to have low malignancy grade. However, when dedifferentiation occurs, the tumor acquires the aggressive features of a fully malignant lesion. This process largely is believed to progress in a time-dependant manner; however, time is not the only factor of importance. The potential roles of other factors in this transition are still unclear. To date, the coexistence of AML and liposarcoma has not been reported in the literature. In this paper, we report on a case of coexistence of AML and liposarcoma, and on the unusual behavior of a well-differentiated tumor after dedifferentiation occurs.     

The efficacy of acetazolamide on visual functions in a patient with choroid metastasis of breast carcinoma

Breast carcinoma is the most frequent cancer in women and is the second leading cause of death. Choroid metastasis of breast carcinoma can be found either at presentation or in remission. It is frequently encountered in disseminated breast cancer with multiple organ metastasis. It has been proposed that the oedema-reducing effect of acetazolamide is due to stimulated ion and fluid removal from the retina to the choroid. A 40-year-old female patient on adjuvant chemotherapy for breast cancer was found to have an isolated choroid metastasis. Clinical and radiological remission was achieved after orbital radiotherapy, chemotherapy and acetazolamide treatment. In this case report, we emphasise the possible beneficial effect of acetazolamide in patients with choroid metastasis.     

Evaluation of Pulmonary and Extrapulmonary Tuberculosis in Immunocompetent Adults: A Retrospective Case Series Analysis

Objective

It was the aim of this study to evaluate the demographic factors and clinical features of extrapulmonary tuberculosis (EPTB) compared to those of pulmonary tuberculosis (PTB) among adult immunocompetent patients.

Subjects and Methods

A total of 427 patients with clinically, radiologically and histopathologically confirmed TB were enrolled in the study, in our clinic at a tertiary care hospital in Turkey, during a 5-year period (2007-2012). Patient data were obtained retrospectively. Among the 427 patients, 55 patients with both PTB and EPTB and who were using steroids or had taken immunosuppressive drugs were excluded from the study.

Results

Of the 372 patients, 227 (61%) were males and 168 (45.2%) had EPTB; 204 (54.8%) patients had PTB. The most frequent sites of EPTB were the lymph nodes (n = 45, 12.1%), pleura (n = 40, 10.7%) and brain (n = 7, 1.8%). The most common symptoms were cough (n = 174, 46.7%), night sweats (n = 127, 34.1%) and fever (n = 123, 33%). Compared to EPTB patients, PTB patients were less likely to have received Bacillus Calmette-Guérin vaccination (odds ratio 0.41, 95% confidence interval 0.2-0.63; p < 0.001). Eighty-one (48.2%) of the EPTB and 146 (71.6%) of the PTB patients were males. Pulmonary involvement was more common among men (n = 146, 71.6%) than among women (n = 58, 28.2%; p = 0.000).

Conclusion

There was a high incidence of EPTB in our study. Early diagnosis of EPTB is crucial for treatment, and atypical presentations of TB should be kept in mind for immunocompetent patients living in endemic areas. Females especially should be investigated for EPTB.Key Words: Tuberculosis, Extrapulmonary tuberculosis, Clinical features     

Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis

A male patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2 by means of two-color fluorescence in situ hybridization (FISH). This duplication is typical for the vast majority of Charcot-Marie-Tooth type 1A (CMT1A) cases. Analysis of DNA extracted from peripheral blood used to detect an EcoRI/SacI 3.2-kb junction fragment with probe pLR7.8 confirmed the CMT1A duplication, but also revealed a 7.8-kb fragment usually observed in patients with a hereditary neuropathy with liability to pressure palsies (HNPP). Both fragments observed in one patient canot result from one unequal crossover. In EcoRI/SacI Southern hybridization experiments with probe pLR7.8 DNA of his healthy parents also revealed a 7.8-kB restriction fragment. A subsequent two-color FISH analysis, however, indicated a normal status for interphase nuclei of the parents. Hence we hypothesize that the 7.8-kb fragment observed in our patient and his parents is not the product of unequal crossover during meiosis but due to a polymorphism of the SacI site in a proximal CMT1A-REP element. Received: May 28, 1998 / Accepted July 27, 1998 / Published online: December 9, 1998