A case report of a young female with plasma cells leukemia

Plasma cell leukemia (PCL) is a rare and aggressive variant of plasma cell dyscrasias that can occur either de novo (primary) or as a leukemic transformation of end-stage multiple myeloma (MM). PCL is known with a poor prognosis and with a different biologic background, clinical, and laboratory features. Primary PCL presents more often with extramedullary involvement, anemia, thrombocytopenia, hypercalcemia, elevated serum 2-microglobulin, and lactate dehydrogenase levels, in addition to impaired renal function in comparison with MM. Here, we report a case of a young female who was admitted with excessive thirst, polyuria, lower backache, fever, and weight loss over 2 months. Peripheral blood smear showed numerous atypical looking plasma cells, and immunophenotyping on bone marrow (BM) aspirate demonstrated the presence of clonal plasma cells. She was admitted to adult hematology ward in Hiwa Hemato-Oncology Hospital, Sulaimani, Kurdistan, Iraq and received four cycles of bortezomib, thalidomide, and dexamethasone chemotherapy, followed by two more cycles of dexamethasone, cyclophosphamide, etoposide, and cisplatin, and later, she proceeded to autologous BM transplantation. More details of the case are presented below

Demographic features of neuroblastoma in Iraq-Kurdistan Region- Sulaimani

Background: Neuroblastoma is the third most common cancer in pediatric age group; it is the most common malignancy in the 1st year of life. The majority of the patients (50%–65%) have advanced disease at diagnosis. Diagnoses, staging investigations, and risk categorization have a great success in neuroblastoma, trying to classify the patient into risk groups according to the age, stage, and molecular study and this in turn has important value in the treatment strategies. Despite of this improvement in the early diagnosis and treatment protocol, neuroblastoma stills is one of the malignant diseases that are associated with high morbidity and mortality. Objectives: The aims of this study were to evaluate the pattern of presentation, studying the correlation between age, sex, and site of primary tumor with disease staging in patients with neuroblastoma. Patients and Methods: This study was done prospectively over a period of 6 years from February 2008 to February 2014. Sixty-two patients with newly diagnosed pediatric neuroblastoma admitted to Hiwa Hematology/Oncology hospital were included in this study. Age, sex, clinical patterns, staging, and important laboratory findings were assessed. The patients staged according to the International Neuroblastoma Staging System. We divided our patients into three groups according to the risk categories. Results: Data analyzed using SPSS- 13 and P value obtained by Chi-square test, a median age at diagnosis was about 24 months with male predominance. Most common site of the primary tumor was the abdomen; approximately 69% of our patients with neuroblastoma studied were Stage 4. Conclusion: The stage in our study was age dependent, but it was neither depending on the sex nor the site of the primary tumor

A novel missense mutation in the <it>CLCN7</it> gene linked to benign autosomal dominant osteopetrosis: a case series

Abstract Introduction Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton. The absence or malfunction of osteoclasts is found to be strongly associated with the disease evolution. Currently, four clinically distinct forms of the disease have been recognized: the infantile autosomal recessive osteopetrosis, the malignant and the intermediate forms, and autosomal dominant osteopetrosis, type I and type II forms. The autosomal recessive types are the most severe forms with symptoms in very early childhood, whereas the autosomal dominant classes exhibit a heterogeneous trait with milder symptoms, often at later childhood or adulthood. Case presentation Case 1 is the 12-year-old daughter (index patient) of an Iraqi-Kurdish family who, at the age of eight years, was diagnosed clinically to have mild autosomal dominant osteopetrosis. Presently, at 12-years old, she has severe complications due to the disease progression. In addition, the same family previously experienced the death of a female child in her late childhood. The deceased child had been misdiagnosed, at that time, with thalassemia major. In this report, we extended our investigation to identify the type of the inheritance patterns of osteopetrosis using molecular techniques, because consanguineous marriages exist within the family history. We have detected one heterozygous mutation in exon 15 of the Chloride Channel 7 gene in the index patient (Case 1), whereas other mutations were not detected in the associated genes TCIRG1, OSTM1, RANK, and RANKL. The missense mutation (CGG>TGG) located in exon 15 (c.1225C>T) of the Chloride Channel 7 gene changed the amino acid position 409 from arginine to tryptophan (p.R409W, c.1225C>T). Case 2 is the 16-year-old son (brother of the index patient) of the same family who was diagnosed clinically with mild autosomal dominant osteopetrosis. We have identified the same heterozygous mutation in exon 15 of the Chloride channel 7 gene in this patient (Case 2). The missense mutation (CGG>TGG) located in exon 15 (c.1225C>T) of the Chloride channel 7 gene changed the amino acid position 409 from arginine to tryptophan (p.R409W, c.1225C>T). In addition to the clinical diagnosis of both cases, the missense mutation we identified in one allele of the Chloride channel 7 gene could be linked to autosomal dominant osteopetrosis-II because the symptoms appear in late childhood or adolescence. Conclusion In this family, the molecular diagnosis was confirmed after identification of the same mutation in the older son (sibling). Furthermore, we detected that the father and his brother (the uncle) are carriers of the same mutation, whereas the mother and her sister (the aunt) do not carry any mutation of the Chloride channel 7 gene. Thus, the disease penetrance is at least 60% in the family. The mother and father are cousins and a further consanguineous marriage between the aunt and the uncle is not recommended because the dominant allele of the Chloride channel 7 gene will be transferred to the progeny. However, a similar risk is also expected following a marriage between the uncle and an unrelated woman. The p.R409W mutation in the Chloride channel 7 gene has not yet been described in the literature and it possibly has a dominant-negative impact on the protein.</p

Demographics and outcome of diffuse large B-cell lymphoma patients in Hiwa Hospital - Iraq-Kurdistan-Sulaimani

Background: Diffuse large B-cell lymphoma (DLBCL) is a heterogeneous form of hematological malignancy which comprises about 30% of lymphomas with variable outcome. Onset is usually in the sixth decade of life with male predominance. Morphological, clinical, and biological variation of DLBCL confirms the coexistence of several subtypes of the disease with distinct behavior of each type. Objective: The aims of this study were to determine the demographics and outcome of patients with DLBCL and compare these parameters with regional and international data. Patients and Methods: A retrospective study was conducted on 61 patients with confirmed diagnosis of DLBCL. The diagnosis was based on histopathological and immunohistochemistry which was done in the Department of Pathology, Shorsh General Hospital in Sulaimani. The cases were randomly selected according to the availability of data since March 2013–March 2017. Results: Median age at diagnosis was about 51 years with peak age of incidence between 50 and 64 years, with female predominance. The most common site of the primary tumor was nodal in which cervical lymph node is the most common site, and majority of the patients were in Stage III with predominance of B-symptoms. Vast majority of the patients have normal chest X-ray, and majority of the patients were in remission over a period of 19 months of follow-up. Conclusion: We found that there is a significant relationship between age, stage, and performance of the patients, while no significant relation between other parameters and the outcome of the patients is near to their Peers internationally