1.Trisomy X and Myelodysplastic Syndrome (MDS) with Eosinophilia
RMT Eusni ; CF Leong ; S Salwati
Malaysian Journal of Medicine and Health Sciences 2012;8(2):65-67
We reported a young patient with myelodysplastic syndrome (MDS) with eosinophilia, in which her
chromosomal analysis revealed the presence of trisomy X and a marker chromosome at chromosome
11. The technique used to detect the chromosomal abnormalities is a multicoloured –fluorescent in
situ hybridization technique (M-FISH). Our observation suggested that these underlying chromosomal
abnormalities were probably responsible for her development of MDS with eosinophilia.
Myelodysplastic syndrome (MDS) is a condition whereby there is ineffective production of
haematopoietic stem cells and poor quality of cells produced. The cause can either be a primary bone
marrow problem, de novo or therapy related. Most MDS cases are secondary rather than primary. Many
chromosomal abnormalities have been found in cases of myelodysplastic syndrome. We described a
case of MDS with eosinophilia in association with presence of trisomy X and a marker chromosome in
chromosome 11.
2.Immunohistochemical Study of p53 Expression in Premalignant and Malignant Cervical Neoplasms
Tan GC ; Sharifah NA ; Salwati S ; Shiran MS ; Hatta AZ ; Ng HO
Medicine and Health 2007;2(2):125-132
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.
3.Anaplastic Large Cell Lymphoma Presenting as a Soft
Siti-Aishah M.A. ; Salwati S. ; Idrus M. ; Rahimah R. ; Salmi A. ; Leong C.F. ; Sharifah N.A.
Medicine and Health 2008;3(1):69-74
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.
4.A case of chronic myeloid leukaemia in blast transformation with leukemic ascites
Mohd Ridzuan Mohd Said ; Ernie Yap ; Wan Fariza Wan Jamaluddin ; Fadilah S Abdul Wahid ; Salwati Shuib
The Medical Journal of Malaysia 2016;71(2):85-87
Chronic Myeloid Leukaemia (CML) is a disease
characterised by a distinctive marker that is the Philadelphia
Chromosome and an ability to transform into blast phase,
which confers a poor prognosis. The median survival was
reported to be between three to six months in correlation to
blast phase. Extramedullary involvement with CML to sites
such as pleural, meningeal and bones have been reported.
We report a case of 41-year-old man who was diagnosed
with CML in blast phase and presented with ascites.
Ultrasound of abdomen showed coarse echotexture of liver
suggestive leukaemic infiltration to the liver. The liver profile
was severely deranged and associated with coagulopathy.
Flow cytometry analysis of the peritoneal fluid revealed
presence of myeloblasts consistent with CML in blast crisis
with leukaemic ascites. Bone marrow biopsy also confirmed
disease transformation. He received standard induction
chemotherapy for acute myeloid leukaemia with dose
modifications based on liver enzymes performance. Our
case highlights an unusual presentation of CML in blast
crisis with leukaemic ascites and the challenges in
managing cytotoxic treatments due to the liver infiltration.
Leukemia, Myeloid, Acute
5.A Rare Case of a Male Infant with Down-Turner Syndrome and Review of Cases
Medicine and Health 2019;14(1):234-243
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.