Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn.

Bloch-Sulzberger Syndrome, also known as Incontinence Pigmentosa (IP), is a rare genodermatosis in which skin involvement occurs in almost all patients. Additionally, other ectodermal tissues like the central nervous system, eyes, hair, nails, and teeth may also be impacted. An X-linked dominant inheritance pattern characterizes the condition. But in our situation, IP caused a mutation in the body cells. There are four steps to the dermatological results. We describe the case of a 12-day-old female who had cutaneous features. It is crucial to make an early diagnosis using criteria like cutaneous symptoms so that quick diagnoses and interventions for other organs can be made to control more deadly complications in the future.

Breast Cancer Management Consensus By The Society of Surgeons and Surgical Oncology Society of Pakistan.

The Society of Surgeons of Pakistan and The Society of Surgical Oncology of Pakistan with factions from various major centres comprising of surgical oncology, medical and radiation oncology collaborated to reach consensus on breast cancer management guidelines and a framework of "good practice" minimum standards of care. The aim of the task force was to enhance treatment standards, which have a direct correlation with improving patient mortality and morbidity and long-term survival whilst taking into consideration economic limitations of access to leading centers of excellence as well as minimum expertise required in health care. These multidisciplinary guidelines, whilst not exhaustive, aim to provide an algorithm of care for breast cancer patients at tertiary care centres and district level hospitals to provide most appropriate treatment.

Central nervous system involvement in Multiple Myeloma-Diagnosis, treatment and outcome: A case report.

Multiple Myeloma is a clonal proliferation of plasma cells with bone marrow as the primary site of occurrence. Extramedullary multiple myeloma is uncommonly seen either at presentation or later during the course of the disease. Central nervous system involvement by multiple myeloma is an extremely rare entity with a dismal outcome. This case report focuses on a 45-year-old male who presented with bone aches. Investigation findings leading to the diagnosis included elevated calcium levels, lytic lesions on radiological examination and clonal plasma cells in bone marrow biopsy. During his treatment, the patient was given chemotherapy regimens containing Lenalidomide, Bortezomib, Cyclophosamide, and Prednisolone. Thereafter, he developed neurological complications (CNS myelomatosis), which resulted in his demise. The clinical presentation, diagnosis, treatment and outcome of this rare condition is detailed below.

Prevalence Of FLT-3 Mutation In Acute Myeloid Leukaemia.

BACKGROUND: FLT-3 mutation is a valuable prognostic marker in patients of AML being related with bad prognosis and poor clinical response to conventional chemotherapeutic agents. Frequency of FLT-3 mutation in AML varies from 25% to 35%. The objective of this study was to determine prevalence of FLT-3 mutation in patients with Acute Myeloid Leukaemia. METHODS: This observational cross-sectional Study was conducted in Department of Oncology, Jinnah Hospital Lahore from 1st October 2018 to 31st March 2019. Patients with acute myeloid leukaemia, aged 15-60 years, of both genders were included. After taking consent, demographic data was noted. Three ml of sample of blood was obtained from each patient and sent for detection of FLT-3 mutation. Data was analysed using SPSS version 20.0. Chi square test was applied, pvalue <0.05 significant. RESULTS: A total of 180 patients were enrolled in this study. The mean±SD age of patients was 34.72±14.3 years, among which 38.3% were female and 61.7% male. The mean±SD duration of disease was 3.39±2.8 months. The mean±SD haemoglobin level, TLC and platelet counts were 7.2±2.3 g/dl, 30,913±63,573 per cm and 58.6±52.3×103 per cm. The blast cell (%) count was 69.6±19.8. FLT-3 mutation was present in 18.9%. CONCLUSIONS: We conclude that FLT-3 mutation to be present in only a minority of patients with Acute Myeloid Leukaemia having no significant association with age, sex, haemoglobin, WBCs and blast counts.

Sustained superior long-term outcomes and cytogenetic responses with imatinib mesylate in chronic phase chronic myeloid leukaemia: report from a developing country.

OBJECTIVE: Imatinib mesylate is now a standard treatment for chronic myeloid leukaemia. Primary objective of our study was to report long-term survival outcomes in patients receiving Imatinib in chronic phase. Secondary objectives included determination of cytogenetic responses and toxicity profile of Imatinib mesylate. METHODS: Three-hundred and four consecutive patients with chronic phase chronic myeloid leukaemia were evaluated between January 2001 to December 2007, for event-free survival, overall survival, complete cytogenetic response and toxicity profiles. Event-free and overall survivals were calculated by Kaplan-Meier estimates. Cox regression analysis was performed to evaluate the prognostic factors for survival. Univariate and multivariate analyses were performed for factors predictive of a complete cytogenetic response. RESULTS: Median follow-up was 48 months. Estimated 5-year event-free and overall survivals of all patients were 79% and 86%, respectively. On Cox regression analysis significant predictive factors for event-free survival were age < 50 years (P 0.002), complete cytogenetic response (P < 0.0001), low Sokal score (P 0.007), complete clinical (P < 0.0001) and haematological response (P < 0.0001). Complete cytogenetic response was achieved in 206 (67.8%) patients. On multivariate analysis, low Sokal score (P < 0.0001) and early chronic phase disease (P < 0.0001) emerged as the most significant predictors for achieving a complete cytogenetic response. An estimated 5.8% patients lost their complete cytogenetic response. Grade III/IV toxicity was observed in only 21 patients. CONCLUSIONS: Long-term treatment with Imatinib mesylate results in superior and durable responses in chronic phase chronic myeloid leukaemia. Our survival outcomes are similar to reported rates in the Western population.

Survival of women with locally advanced breast cancer at a teaching hospital in Lahore.

OBJECTIVES: To correlate the clinical features of women presenting with locally advanced breast cancer with event-free survival (EFS) and overall survival (OS) and to evaluate the patterns of relapse. METHODS: A total of 200 patients presenting consecutively over 9 years with Stage III breast cancer were evaluated for age, socio-economic status (SES), tumour size and grade, number of involved lymph nodes, stage III sub-categories, estrogen and progesterone receptor (ER/PR) status, treatment profiles and responses, and sites of relapse. EFS and OS at 5 and 10 years were calculated. RESULTS: Median age was 45 years. Poorly differentiated tumours were found in 127 patients, while 128 had larger tumours (T3 and T4). Eighty women had extensive nodal involvement (N2 and N3), and 86 had Stage IIIA tumours. Chemotherapy was given to 44 patients before surgery and one of these patients achieved pathological complete response. At 5 and 10 years, EFS was 25% and 7%, and OS was 52% and 31%, respectively. By Cox regression analysis, significant predictors of EFS included tumour size (95% CI 1.14-1.72), nodal involvement (95% CI 1.06-1.59) and ER/PR positive tumours (95% CI 1.08-2.29). Predictors of OS included nodal involvement (95% CI 0.98-3.3) and ER/PR positive tumours (95% CI 1.08-2.29). No patient in stage IIIC was alive at 10 years. Loco-regional disease was the most common site of relapse (28.5%). CONCLUSIONS: Locally advance breast cancer at our centre is associated with poor survival, and most patients relapsed by 5 years.