Introduction BCR-ABL1, resulting from t(9;22), is the oncogenic driver of chronic myeloid leukemia and the therapeutic target of the disease. Molecular studies have been the gold standard modality for patient assessment since the advent of tyrosine kinase inhibitor therapy. In spite of that, there are cytogenetic abnormalities that can render the disease unresponsive to conventional therapy, thus making cytogenetics an important component of patient management guidelines. Case presentation We present a case of a Tajik, Afghan patient with chronic myeloid leukemia with del(6)(q23.3q27), t(9;22)(q34;q11.2), monosomy 11, monosomy 12, and marker chromosome who, despite having typical clinical and hematological disease with initial response to therapy, progressed to blast crisis very early and thus required special interventions. Conclusion Cytogenetic monitoring is an important pillar in the management of patients with chronic myeloid leukemia that cannot be ignored. It should therefore be a part of patient management not only during diagnosis but also during management. We present an unusual cytogenetic abnormality in a patient with chronic myeloid leukemia that resulted in early disease progression.
Background: Acute promyelocytic leukaemia results from reciprocal translocation between the long arms of chromosomes 15 and 17. This translocation leads to the formation of chimeric gene, which is both the diagnostic marker as well as the therapeutic target of the disease. Additional chromosomal abnormalities are randomly encountered either at diagnosis or during therapy. Here, we present a case of acute promyelocytic leukaemia that had a rare cytogenetic profile at diagnosis. Case presentation:Our patient was a 14-year-old boy, who presented with characteristic clinical and morphological features of acute promyelocytic leukaemia. Karyotypic analysis revealed trisomy of chromosome 8 with deletion of 9p in addition to t(15;17).The patient passed away within the first 8 h of presentation while receiving conventional chemotherapy and haemodynamic resuscitation. Conclusion:Our patient presented with a rare cytogenetic profile and rapidly progressive disease. According to our extensive literature search, this was the first case of acute promyelocytic leukaemia having pathognomonic t(15;17) along with trisomy 8 and 9q deletion.
Background Hilus cell tumours is considered an uncommon branch of androgen producing neoplasms that accounts for < 5% of all ovarian tumours. They are mostly benign and have characteristic gross and microscopic features. Here we present the first case of a hilus cell tumour in association with bilateral serous cystadenomas. Case presentation A 65-year-old lady with no symptoms of virilization, presented with postmenopausal dysfunctional uterine bleeding and radiological investigations revealing bilateral ovarian cysts that required a total abdominal hysterectomy with bilateral salpingo-oophorectomy. Gross and microscopic evaluation confirmed the diagnosis of hilus cell tumour associated with bilateral serous cystadenomas. Conclusions This was the first case of hilus cell tumour in association with bilateral serous cystadenomas of the ovaries. Although, majority of hilus cell tumours that have been reported in the literature were benign, further studies are required to determine the behavior of the disease.
Purpose Cancer is one of the leading causes of mortality and morbidity, and therefore, tremendous research work is continuously being done around the world with consideration of etiopathogenesis as well as identification of therapeutic targets. Decades of continuous war in Afghanistan has left the medical infrastructure of the country in a miserable situation. There is a serious deficiency in research work in the fields of pathology and oncology at the moment with minimal data available to elaborate about the demographic characteristics of various malignant disorders in the country, which would be indispensable to pave the way for further research and development. Patients and Methods A descriptive cross-sectional study was conducted to describe the prevalence, distribution, and important histopathological features of malignant tumors reported at tertiary level in Afghanistan. Results Out of 2328 consecutive cases of solid malignant tumors included in our study, 93.8% were primary and 6.2% were metastatic. Breast was the most common site of origin for primary malignancy (29.5%) in females; however, in males, esophagus was the leading site for primary malignant tumors (16.3%). Invasive ductal carcinoma was the most common histologic type of malignancy in females (87.9%). However, in both genders, squamous cell carcinoma of esophagus and skin, osteosarcoma of bone and soft tissue, and glioblastoma of central nervous system were the most common histologic types of malignancies diagnosed. Small intestine was a frequently involved site affected by extranodal non-Hodgkin lymphomas. Overall, the majority of the cancers were diagnosed in stage-II. Conclusion Findings in our study were somewhat similar to data presented elsewhere in the world, with some significant differences that could be related to the local factors. Our study revealed that most of the malignant tumors were diagnosed in later stages of the disease, attributable to scarcity of specialized oncology institutions and public awareness.
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