A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases

@#Individuals with double aneuploidy of Down-Turner syndrome are very rare and to date, fewer than 50 cases have been reported, worlwide. We report a case of a male infant who presented with dysmorphic features of upslanting eyes, flat nasal bridge, wide spaced nipples and macroglossia. Based on the clinical features, he was diagnosed with Down syndrome. His peripheral blood sample was taken and sent for cytogenetic analysis for confirmation. Chromosome analysis of his lymphocyte cell culture revealed a mosaic pattern of double aneuploidy with monosomy X identified in 31 metaphases and trisomy 21 in 14 metaphases: (45,X[31]/47,XY,+21[14]). Further analysis with fluorescence in situ hybridization (FISH) using Vysis LSI SRY Spectrum Orange/CEP X Spectrum Green Probe and Vysis CEP Y Spectrum Aqua Probe and Vysis LSI 21 Spectrum Orange Probe performed on the cells (nuclei and metaphases) has confirmed the presence of the abnormal two cell lines (81% monosomy X and 19% trisomy 21) in the patient. Ultrasound investigations of his pelvic region showed normal testes and no evidence of uterus, ovary or vagina. To the best of our knowledge, this is the first Down-Turner syndrome reported in Malaysia. In conclusion, this case demonstrates the importance of Giemsa-banded karyotype and FISH analyses as diagnostic tools in identifying the chromosomal abnormality and determining the ratio of the normal:abnormal cells present in the patient. An annotated bibliography of earlier reported cases of Down-Turner with documented karyotyping is also included in this report.

Anaplastic Large Cell Lymphoma Presenting as a Soft

Anaplastic large cell lymphoma (ALCL) is a rare tumour, accounting for approximately 3% of adult non-Hodgkin lymphomas.1 Primary systemic ALCL frequently involves both lymph nodes and extranodal sites. A 44-year-old woman presented with a firm, mobile mass in the left iliac fossa region. Ultrasound findings showed a well defined inhomogenous soft tissue mass, measuring 4x4x2.6cm in the deep subcutaneous region. Histopathological examination revealed that the mass was infiltrated by large lymphoid cells with marked nuclear atypia including kidney-shaped nuclei. These neoplastic cells expressed anaplastic lymphoma kinase (ALK) (both nuclear & cytoplasmic staining), CD30 and EMA but not for T-cell (CD45RO and CD3), and B-cell (CD20 & CD79α) markers. Fluorescence in situ hybridization (FISH) analysis showed a t(2;5)(p23;q35) chromosomal translocation. Subsequently the patient developed shortness of the breath and a thoracic computed tomography (CT) scan showed a mass encasing the right upper lobe bronchus. She also had bilateral axillary lymph nodes, measuring 1 cm in diameter (biopsy was not done). The mediastinum and endobronchial region did not show any abnormalities. She received 6 cycles of CHOP chemotherapy and remained disease free 2 years after diagnosis. ALCL, rarely present as a soft tissue tumour and this disease should be included as a differential diagnosis of any soft tissue mass.

Immunohistochemical Study of p53 Expression in Premalignant and Malignant Cervical Neoplasms

One of the most important cervical cancer risk factors is human papillomavirus (HPV) infection. The p53 gene is one of the most important targets of the HPV E6 gene. E6 protein has the ability to stimulate p53 degradation, inhibits several functions of wild-type p53 and it competes with its function including suppression of malignant growth. The aim of this study is to determine the differences in p53 expressions in pre-malignant and malignant cervical neoplasms. This is a retrospective study on 100 cases of cervical neoplasms. There were 21 cases of CIN 1, 8 cases of CIN 2, 25 cases of CIN 3, 36 cases of squamous cell carcinoma, 7 cases of adenocarcinoma and 3 cases of adenosquamous carcinoma. All cases were evaluated by immunohistochemistry using p53 monoclonal antibody. Thirty six of the 54 pre-malignant cases (66.7%) were positive for p53 protein, in contrast to the malignant cases in which, 40 of the 46 cases (87.0%) were positive. The majority of CIN showed absent to focal staining (29/54, 53.7%). In contrast, 84.8% (39/46) of the invasive carcinoma showed regional to diffuse staining. The expression of p53 is greater in the malignant cervical neoplasms than the pre-malignant cervical lesions, suggesting that p53 overexpression is not an early phenomenon in the pathogenesis of cervical cancer. It is also shown to be slightly higher in percentage in CIN 2 and 3 when compared with CIN 1. However, a number of cases were p53 negative, suggesting that other factors may be involved and further HPV studies are indicated.