Severe Chronic Neutropenia in Korean Children.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4513-4513
Author(s):  
Mee Jeong Lee ◽  
Hyeon Jin Park ◽  
Hee Young Shin ◽  
Hyoung Jin Kang ◽  
Hong Hoe Koo ◽  
...  
Keyword(s):  
Bacterial Infections ◽  
Conflicts Of Interest ◽  
Clinical Manifestations ◽  
Bone Marrow Examination ◽  
Korean Children ◽  
Hematologic Disorder ◽  
Lost To Follow Up ◽  
Chronic Neutropenia ◽  
Main Clinical Manifestation

Abstract Abstract 4513 Introduction Severe chronic neutropenia (SCN) is a rare hematologic disorder defined by an absolute neutrophil count less than 0.5×109/L for several months or years. They usually suffer from recurrent infections. Principal subtypes of SCN are congenital, cyclic, idiopathic and primary autoimmune neutropenia (AIN). Patients and Methods Medical records collected from a national survey were retrospectively analyzed on newly diagnosed SCN patients in Korea between January, 1999 and December, 2008 in respect to the diagnosis, clinical manifestations, treatments and prognosis of the patients. Results There were 64 patients (Male, 20; Female 44) reported from 16 hospitals: congenital, 19; cyclic, 16; idiopathic, 25; and immune in origin, 4. The main clinical manifestation was various types of bacterial infections. Two cases (1 congenital, 1 cyclic) were diagnosed by family histories. The median age at diagnosis was 12 months (11 days-158 months). A bone marrow examination was done in 45 patients (70.3 %) at the median age of 26 months (1 day-158 months), with the interval between the initial CBC and BM study being 7.3 months (9 days-138 months). The ELA2 mutation, done in 6 patients, was not detected. Only one patient with congenital SCN evolved to AML at 54 months after diagnosis, who is under chemotherapy. Most patients were treated with G-CSF (5-10 μg/kg/day) during infection episodes. The median follow up duration was 23 months (11 days – 176 months). Two patients of congenital SCN died of infection (pneumonia, meningitis) and 8 patients were lost to follow up, and the remaining are alive. Conclusions SCN is a rare hematologic disease with inherent vulnerability to infections, thus early detection with proper management should be important for survival of SCN patients. We propose a nation-wide, prospective study to delineate the prevalence, molecular diagnosis, natural history, the optimal use of G-CSF, and prognostic factors in Korean patients with SCN. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Efficacy of Combined Laparoscopic and Hysteroscopic Repair of Post-Cesarean Section Uterine Diverticulum: A Retrospective Analysis

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Cuilan Li ◽  
Shiyan Tang ◽  
Xingcheng Gao ◽  
Wanping Lin ◽  
Dong Han ◽  
...  
Keyword(s):  
Cesarean Section ◽  
Combined Treatment ◽  
Clinical Manifestations ◽  
Abnormal Uterine Bleeding ◽  
Lower Uterine Segment ◽  
Improvement Rate ◽  
Uterine Scar ◽  
Lost To Follow Up

Background. Diverticulum, one of the long-term sequelae of cesarean section, can cause abnormal uterine bleeding and increase the risk of uterine scar rupture. In this study, we aimed to evaluate the efficacy of combined laparoscopic and hysteroscopic repair, a newly occurring method, treating post-cesarean section uterine scar diverticulum.Methods. Data relating to 40 patients with post-cesarean section uterine diverticulum who underwent combined laparoscopic and hysteroscopic repair were retrospectively analyzed. Preoperative clinical manifestations, size of uterine defects, thickness of the lower uterine segment (LUS), and duration of menstruation were compared with follow-up findings at 1, 3, and 6 months after surgery.Results. The average preoperative length and width of uterine diverticula and thickness of the lower uterine segment were recorded and analyzed. The average durations of menstruations at 1, 3, and 6 months after surgery were significantly shorter than the preoperative one (p<0.05), respectively. At 6 months after surgery, the overall success improvement rate of surgery was 90% (36/40). Three patients (3/40 = 7.5%) developed partial improvement, and 1/40 (2.5%) was lost to follow-up.Conclusions. Our findings showed that combined treatment with laparoscopy and hysteroscopy was an effective method for the repair of post-cesarean section uterine diverticulum.

Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda

2021 ◽  
Vol 14 (10) ◽  
pp. e245160
Author(s):  
Sonali Prasad ◽  
Vidhata Vidhata ◽  
Subhash Prasad
Keyword(s):  
Porphyria Cutanea Tarda ◽  
Clinical Manifestations ◽  
Ocular Involvement ◽  
Slit Lamp ◽  
Uroporphyrinogen Decarboxylase ◽  
Progressive Loss ◽  
The Right ◽  
Lost To Follow Up ◽  
Test Serum

Porphyria cutanea tarda is the most common type of porphyria. It is associated with a deficiency of uroporphyrinogen decarboxylase enzyme responsible for heme synthesis. Clinical manifestations are predominantly dermatological and very rarely present with ocular involvement. Although scleral thinning in the interpalpebral area is a well-documented entity, sight-threatening corneal involvement is rarely described. We, herein report a case of a 58-year-old man who presented with ocular surface dryness, photophobia and mild redness. Slit-lamp biomicroscopy revealed corneo-scleral thinning in both eyes. The diagnosis was confirmed with a urine porphyrin test, serum iron and serum ferritin levels. We started him on conservative management after which he was lost to follow-up. He presented again after 6 years with total corneal opacification and progressive loss of vision in the right eye.

scholarly journals Favorable Outcome in CLL Patients Not Treated Despite Presenting Iwcll Criteria: A Retrospective Analysis of the Brazilian CLL Group

Blood ◽  
2020 ◽  
Vol 136 (Supplement 1) ◽  
pp. 12-12
Author(s):  
Fernanda de Morais Marques ◽  
Verena Pfister ◽  
Flavia Parra ◽  
Mihoko Yamamoto ◽  
Rodrigo Santucci Silva ◽  
...  
Keyword(s):  
Low Income ◽  
Conflicts Of Interest ◽  
International Workshop ◽  
Clinical Manifestations ◽  
Lymphocytic Leukemia ◽  
Public Hospitals ◽  
Low Income Countries ◽  
Treatment Indication ◽  
Treatment Indications

Introduction: Some patients with CLL will require treatment at diagnosis, but many other will remain untreated under observation for several years. In 2008, the International Workshop on Chronic Lymphocytic Leukemia(IWCLL) defined the criteria for treatment indications, which have been widely used in daily practice and in clinical trials. We have observed that many patients tolerate several of these clinical manifestations without treatment need, especially in public hospitals were resources and treatment options are scarce. We identified 5 reference centers for CLL that share the same profile of being more conservative in indicating treatment for CLL patients. We decided to analyze if more conservative local criteria for treatment indication impacts on patients' outcomes. Objective: To describe the outcomes of a series of CLL patients treated according to locally defined more conservative criteria for initiating treatment. Methods: The Brazilian Registry of CLL was started in 2004 as a prospective observational data collection tool. Inclusion criteria for enrollment followed the IWCLL guidelines. We retrospectively evaluated all patients with CLL in the Brazilian Registry of CLL who were followed between January 2013 and April 2020 at the 5 reference centers (3 public and 2 private). The following local criteria were used for treatment indications to all patients included: 1) persistent and progressive symptomatic cytopenias (no predefined minimum levels), 2) Massive or symptomatic lymphadenopathy, 3) Massive or symptomatic splenomegaly, 4) Disease-related symptoms, only if persistent and if other causes were excluded, and 5) Autoimmune complications including anemia or thrombocytopenia non-responsive to steroids. Progressive lymphocytosis and extranodal manifestations were not considered for treatment indication. Results: A total of 581 patients were followed during the observation period of 7 years (median follow-up was 40 months (range: 3-86). Median age was 65 years (range: 32-98) and most patients were male (57%). Binet stage was A in 67%, B in 14% and C in 19% of cases. FISH, performed in only 199 patients (34%), was normal in 47%, and showed del13q in 22%, trisomy 12 in 17%, del11q in 8% and del17p in 7%. According to IWCLL criteria, 257 (44%) presented indication for treatment over the time: 140 (55%) at diagnosis and 117 (45%) during follow-up. Based on the local criteria, 148 (25%) patients met criteria for indication of treatment. Therefore, 109 patients with IWCLL indication were not treated to date according to the local criteria. The IWCLL indications for these untreated patients were: cytopenias in 50 patients (48%), constitutional symptoms in 37 patients (35%), progressive lymphocytosis in 9 (9%), and lymphadenopathy or splenomegaly in 8 (8%). The median observation time for these untreated patients from the time of indication of treatment by IWCLL until the analysis was closed was 39 months, ranging from 3 to 86 months. Of the 109 untreated patients, 12 (13%) died during follow-up: 4 from infections probably unrelated to CLL (all patients were elderly, Binet A, non-neutropenic and non-hypoglobulinemic), 2 from cardiac causes, 1 from a car accident and 5 of unknown causes (lost follow-up after at least 2 years). No deaths were attributable to LLC. Overall survival at 4 years was 90% for the patients who were treated versus 89% for the patients who were not treated (P=0.85). Conclusion: Our data suggest that it is feasible and safe to adopt more conservative criteria to indicate treatment in a CLL patient. A more restrict approach may not only reflect in a significant financial impact to the health care system but also avoid premature exposition to prolonged and/or potentially toxic treatments. This finding might be of special interest to low-income countries. Disclosures No relevant conflicts of interest to declare.

Rituximab Treatment in Childhood Chronic Immune Thrombocytopenic Purpura (ITP).

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4461-4461 ◽  
Author(s):  
Ji Yoon Kim ◽  
Kun Soo Lee ◽  
Hyoung Jin Kang ◽  
Hoon Kook ◽  
Hong Hoe Koo ◽  
...  
Keyword(s):  
Platelet Count ◽  
Immune Thrombocytopenic Purpura ◽  
Medical Records ◽  
Conflicts Of Interest ◽  
Complete Response ◽  
Thrombocytopenic Purpura ◽  
Chronic Itp ◽  
New Treatment ◽  
Lost To Follow Up

Abstract Abstract 4461 Background Immune thrombocytopenic purpura (ITP) is characterized by mucocutaneous purpura and thrombocytopenia caused by circulating anti-platelet auto-antibodies. ITP is usually self-limited in children, but around 20% of patients will develop chronic ITP. The conventional treatments for children chronic ITP include intravenous immunoglobulin (IVIG), corticosteroid therapy, anti-D immune globulin, or splenectomy. Some children with chronic ITP are refractory to these treatments and nowadays begun to try new treatment agents such as rituximab. Rituximab as a monoclonal antibody to CD-20, has shown promising reports to these patients with refractory chronic ITP in adults groups and a few children groups. We investigated this study to evaluate the efficacy of rituximab for childhood chronic ITP in Korea. Methods We reviewed the questionnaires and medical records about the clinical progresses and results in thirteen children from eight clinical institutes, retrospectively. Complete response (CR) was considered if the platelet count was > 100,000/uL. Results Thirteen patients with chronic thrombocytopenia who had been treated with rituximab were investigated. Two patients were lost to follow-up after rituximab. Finally eleven patients were evaluated including one patient with Evans syndrome. Median age was 6.5 year (range, 0.5 ∼ 15.4). Median platelet count at baseline was 13,700/uL (3,000∼46,000). All patients had been treated with conventional therapy including IVIG and steroids. One had done splenectomy. Median follow-up duration was 2.8 years (1.1-5.9). Among 11 patients, CR was achieved in 3 patients (27%). Their platelet count prior to rituximab were < 10,000/uL. They were treated as the regimen of 375 mg/m2/dose weekly for 4 doses. Time from the first rituximab dose to achievement of complete response was 3.9, 4.9 and 5.7 weeks respectively. One patient who was relapsed 6months after the first course of rituximab was received second course of rituximab using the same regimen and achieved a new CR at 9.3 weeks after. There were no reports about severe complication or interruption of medication. Conclusions Therefore, we suggest that rituximab is effective treatment choice in childhood refractory chronic ITP and well tolerated. Disclosures: No relevant conflicts of interest to declare.

PREGNANCY OUTCOME In GENETIC Subtypes of CONGENITAL Neutropenia

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 4722-4722
Author(s):  
Cornelia Zeidler ◽  
Beate Brand ◽  
Ulrike A.H. Grote ◽  
Anna Nickel ◽  
Karl H. Welte
Keyword(s):  
Bacterial Infections ◽  
Conflicts Of Interest ◽  
Clinical Phenotype ◽  
Infectious Complications ◽  
Current Data ◽  
Congenital Neutropenia ◽  
Cyclic Neutropenia ◽  
Live Births ◽  
Genetic Subtypes ◽  
Chronic Neutropenia

Abstract Abstract 4722 Severe congenital neutropenia (CN) comprises a heterogeneous group of disorders with a common hematological and clinical phenotype characterized by a maturation arrest of myelopoiesis at the level of the promyelocyte / myelocyte stage with peripheral blood absolute neutrophil counts (ANC) below 0.5 ′ 109/l and early onset of bacterial infections. Current data on the molecular causes have demonstrated that CN is a multigene disorder with more than 10 genes described to date. Genetic analyses in autosomal dominant and sporadic cases of CN indicate that the majority of these cases are attributable to mutations in the elastase 2 (ELANE) gene encoding neutrophil elastase. However, mutations in the ELANE gene do not discriminate between patients with CN and patients with cyclic neutropenia (CyN). Since 1987, recombinant human Granulocyte-Colony stimulating factor (G-CSF) is available for the treatment of CN. Independent of the genetic subtype, more than 90% of patients respond well to G-CSF with sustained increase of absolute neutrophil counts and prolonged life expectancy. Since our first patients have reached adulthood the desire for parenthood arises. To-date there is only limited data on the infectious risk for affected mothers and their children due to G-CSF treatment during pregnancy. In this study we assessed the outcome of pregnancies reported to the SCNIR in Europe since 1994 with regard to:The neutropenia status in newborns of mothers and fathers with different genetic CN subtypes as an indicator for inheritance.The impact of G-CSF treatment on maternal and newborn complications in women of all neutropenia subtypes with or without G-CSF treatment during pregnancy. Since 1994 the SCNIR has collected long-term follow-up data of 510 patients with severe chronic neutropenia subtypes. 3 patients are diagnosed with congenital (71 ELANE-CN, 31 HAX1, 9 GC6PC3, 47 SDS, 117 unknown, 45 other), 66 with cyclic and 82 with idiopathic neutropenia. Adulthood was reached by 144 out of 304 CN patients. These include 38 ELANE-CN patients (male:14, female:24) and 11 ELA-CyN patients (male: 5, female:6). A total of 20 pregnancies in 12 mothers and 13 newborns by 7 fathers with different genetic subtypes of CN have been reported. Among them are pregnancies of 11 women with ELANE-CN, 8 with ELANE-CyN, 1 with SDS, 13 with an unknown genetic origin of CN (n=9) or CyN (n=4). No pregnancies were reported in patients with HAX1 or G6PC3 although 7 of these patients have reached adulthood. Data on neutropenia status was documented in 24 out of 31 live births. Neutropenia in newborns was diagnosed in 16 out of 30 live births from parents with genetic subtypes of CN. In 8 of the 16 affected newborns neutropenia was related to ELANE mutations. One mother registered with SDS delivered a healthy child. During pregnancy 17 women received G-CSF treatment (CN=11, CyN=4, IDN=2). Regardless of any cytokine treatment no major infectious complications were reported in our cohort. 24 of 31 reported pregnancies resulted in life births. 5 spontaneous terminations occurred in women with respectively without exposure to G-CSF. In addition, 2 still births were reported in women with idiopathic neutropenia, but G-CSF exposure remains unknown. Conclusion: The proportion of newborns with congenital neutropenia indicates the pattern of inheritance by their parents and reveals the need for genetic counseling. However, the acceptance of having affected children may reflect the high quality of life due to G-CSF treatment in affected parents. G-CSF treatment during pregnancy is well tolerated. In terms of G-CSF treatment, no differences in infectious complications during pregnancy in women with or without G-CSF administration were reported in our cohort. Interestingly, the proportion of women receiving G-CSF during pregnancy is highest among the CN subtype indicating the severe clinical phenotype. We therefore recommend the application of G-CSF in patients with severe chronic neutropenia during pregnancy. Disclosures: No relevant conflicts of interest to declare.

scholarly journals P18 Audit on pre-methotrexate screening in a paediatric rheumatology centre

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Rebecca Foster ◽  
Samundeeswari Deepak ◽  
Kishore Warrier ◽  
Satyapal Rangaraj ◽  
Nikki Camina
Keyword(s):  
Conflicts Of Interest ◽  
Digital Health ◽  
Routine Practice ◽  
Nurse Specialist ◽  
Health Records ◽  
Clinical Nurse ◽  
Risk Patients ◽  
Lost To Follow Up ◽  
Positive Results

Abstract Background The BSPAR section council consensus-based guidance is the most widely used guideline on the use of methotrexate. This recommends that varicella immunity status is checked prior to commencing methotrexate and to consider immunisation if the child is non-immune. It also suggests considering checking measles status and testing for TB in high risk patients. We aim to evaluate our practice of screening paediatric rheumatological patients prior to commencing them on methotrexate. All patients in our centre have methotrexate teaching with a clinical nurse specialist prior to commencing treatment. Methods This study included paediatric patients who were prescribed methotrexate in all forms (subcutaneous, intravenous and orally) for rheumatological conditions and uveitis during a 2-year period (2016 – 2018) regardless of when it was first commenced. Digital health records were accessed to obtain the data retrospectively. Patients were excluded if they had been started on methotrexate prior to joining our centre, or were lost to follow up during the study period or if the required data was unavailable. Results 123 patients were identified to have been prescribed methotrexate during the 2-year study period and 102 patients were included in the study. 28 patients were commenced on methotrexate during 2016 /17 and others were commenced anytime between 2008 -2015. 91 (89%) patients had their varicella status checked prior to commencing methotrexate and 7 patients were checked after treatment was commenced. It was not checked in 4 patients (1 sample rejected and not repeated). Of those checked 20 patients were non-immune and 16 were vaccinated. 57 patients had had measles serology checked, 31 of these prior to commencing methotrexate. 35 patients had TB Quantiferon checked prior to methotrexate being started and 39 after. There were no positive results and 6 (8%) indeterminate of which 5 were repeated and 4 were negative. Of the indeterminate results 4 samples were taken prior to commencing methotrexate and 2 after. Conclusion This study shows that local adherence to checking varicella status prior to commencing methotrexate and vaccinating non-immune patients is good. Routine practice for checking measles, hepatitis and TB is varied. The data was captured over a 2-year period but actually included practice of methotrexate commencement over 9 years and thus time span and change in doctors will have contributed to the variation in practice. We believe some results from outreach clinics were not captured. All four tests are often carried out if it is felt the patient is likely to go on to require biologics. An updated guideline would help streamline the pre-DMARD screening and may limit the number of unnecessary investigations. Conflicts of Interest The authors declare no conflicts of interest.

scholarly journals A rare presentation of immune thrombocytopenic purpura

2021 ◽  
Vol 9 (12) ◽  
pp. 3692
Author(s):  
Ponvijaya Yadav ◽  
Vijayashree S. Gokhale ◽  
Rupesh Parati ◽  
Keyuri Mehta
Keyword(s):  
Platelet Count ◽  
Lupus Erythematosus ◽  
Immune Thrombocytopenic Purpura ◽  
Liver Function Tests ◽  
Bone Marrow Examination ◽  
Severe Thrombocytopenia ◽  
Rare Presentation ◽  
Thrombocytopenic Purpura ◽  
Hematologic Disorder

Immune thrombocytopenic purpura (ITP) is defined as a hematologic disorder, characterized by isolated thrombocytopenia without any apparent cause. Some patients may be diagnosed during routine blood investigations or may present with bleeding diathesis. Treatment required for moderate to severe thrombocytopenia or those with bleeding manifestations. We present a case of 43 year old male, sputum positive pulmonary tuberculosis on isoniazid (H), rifampin (R), pyrazinamide (Z), and ethambutol (E) (HRZE) with persistent thrombocytopenia. He developed hepatitis hence isoniazid (INH) and rifampicin were stopped. He had fever, rash, purpura, hematuria and blood tinged sputum with platelet count of 10,000. 4 random donor platelets (RDPs) given. He suffered from mild COVID-19 infection and recovered in 2 weeks but platelets remained low. Bone marrow examination was suggestive of ITP. Inspite of steroid therapy no improvement was seen. Later was treated with injection romiplostim, and started on systemic lupus erythematosus (SLE) regimen for tuberculosis and discharged with regular follow up. Last platelet count being 1,20000/dl, liver function tests normal and now restarted on HRZE.

ACUTE PROMYELOCYTIC LEUKEMIA (APL) IN PATIENTS AGED > 70 Years.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4160-4160
Author(s):  
Paola Finsinger ◽  
Massimo Breccia ◽  
Clara Minotti ◽  
Ida Carmosino ◽  
Laura Cannella ◽  
...  
Keyword(s):  
Overall Survival ◽  
Acute Promyelocytic Leukemia ◽  
Conflicts Of Interest ◽  
Case Reports ◽  
Promyelocytic Leukemia ◽  
Very Elderly ◽  
Free Survival ◽  
All Trans Retinoic Acid ◽  
Lost To Follow Up

Abstract Abstract 4160 Acute Promyelocytic Leukemia (APL) is a rare subtype of Acute Myeloid Leukemia (AML) more common in younger adults, with a median age of 45 – 50 years at onset. The use of All-trans Retinoic Acid (ATRA) as tailored treatment has made APL a very curable disease also in patients aged > 60 years; however, there are only few case reports in very elderly APL patients. To address this issue, we revised clinical data and treatment results in 12 patients aged > 70 years with newly diagnosed APL followed at our Institution from 1/91 to 12/2008. Clinical characteristics at onset were as follows: M/F 7/5, median age 74.7 years (range 70.0 – 80.8), M3/M3v 11/1, median WBC 1.3 × 109/l (range 1.0 – 7.4), median PLTS 53 × 109/l (range 12 – 302), BCR1/BCR3 6/6. According to Sanz risk score, 7 patients were at low-risk and 5 at intermediate-risk; 6/12 patients had arterial hypertension, 4/12 a concomitant cardiologic disease, 3/12 a cerebro-vascular disease and 2/12 a previous neoplasia. Induction therapy consisted of ATRA + Idarubicin in 8 patients (2/8 with reduced Idarubicin dosage) and ATRA alone in 4 patients; in this latter group, however, 2/4 needed to add chemotherapy (CHT) based on Mitoxantrone + AraC due to hyperleukocytosis during ATRA treatment. All patients achieved both morphological and molecular Complete Remission (CR) after a median time of 50 (range 29 – 65) and 105 (range 51 – 239) days, respectively. Infective complications were observed in 10/12 patients (4 episodes of FUO, 6 sepsis, 2 cystitis and 1 oral abscess) while ATRA syndrome occurred in 2/12 patients; in addition, there were 3 episodes of cardiac ischemia and 3 episodes of paroxystic atrial fibrillation. All but one patient received consolidation therapy (based on CHT alone in 7 patients, CHT + ATRA in 3 patients and ATRA alone in 1 patient), followed by maintenance treatment in 8 patients. Four patients had a relapse (hematological in 3 cases and molecular in 1 case) after 8, 11, 35 and 56 months respectively. At present, 6 patients are still alive, 4 died due to disease progression (3) or senectus while in CR (1) and 2 were lost to follow-up while in CR: mean event-free survival and overall survival were 89.2 months (95%CI 52.6 – 125.8) and 99.9 months (95%CI 65.0 – 134.7), respectively. In conclusion, ATRA-based treatment of APL is safe and effective also in very elderly patients, with long-lasting disease-free and overall survival. Disclosures: No relevant conflicts of interest to declare.

The Population Based Incidence of Myelodysplastic Syndrome (MDS): Utility of Multiple Data Sources and Follow-up.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 245-245
Author(s):  
Rajat Kumar ◽  
Charles Musuka ◽  
Humaira Khair ◽  
Matthew D. Seftel ◽  
David Szwajcer ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Cancer Registry ◽  
Conflicts Of Interest ◽  
Bone Marrow Examination ◽  
Cancer Registries ◽  
Population Based ◽  
Accurate Estimate ◽  
Teaching Hospitals ◽  
Course Of Illness

Abstract Abstract 245 Background: The incidence of MDS in Canada is not known. Diagnosis of MDS is often challenging as dysplastic features on bone marrow may be non-specific, requiring exclusion of other disorders. The province of Manitoba, with a population of 1.2 million, has a cancer registry which has included patients with MDS since 2001. In this province, hematology diagnostic services are centralized at two teaching hospitals and the few bone marrows performed outside are reviewed centrally. This provided us with the opportunity to use registry data and bone marrow records to determine the incidence of MDS. We hypothesized that for an accurate estimate, a proportion of MDS cases would require follow-up data. Methods: Retrospective study to examine all cases of MDS, which included chronic myelomonocytic leukemia (CMML) diagnosed in Manitoba. All adult Manitobans diagnosed with MDS and CMML (excluding RAEB-T), from 01/2006 to 12/2007 were identified from the cancer registry using ICD-O-3 topography code C42.1 and morphology codes 9980/3, 9982/3, 9983/3, 9985/3, 9986/3, 9987/3, 9989/3 and 9945/3. Bone marrow records for the same period were reviewed to identify all cases that had features of MDS. The clinical charts of all these patients were reviewed centrally to exclude those whose clinical course or repeat investigations suggested an alternative diagnosis. Results: A total of 80 patients with newly diagnosed MDS were identified. The age adjusted incidence of MDS was 3.26/100,000. Incidence was higher in men (4.05/100,000) as against women (2.57/100,000). Incidence varied significantly with age at diagnosis: <49yr: 0.12; 50–59yr: 2.24; 60–69yr: 10.63; 70–79yr: 20.41 and >80yr: 21.93. Eleven cases (13.75%) were not known to the cancer registry but were detected on reviewing the bone marrow data. From the registry, nine cases (11.25%) were excluded as the chart review and follow-up revealed alternative diagnoses. Conclusions: The incidence of MDS for Manitoba is similar to published rates in Europe and the USA. This may be an underestimation of the actual incidence, as elderly patients may not undergo bone marrow examination if the therapeutic intervention is only supportive. Cancer registries that include MDS based on one-time bone marrow reports should include a review process of confirming or excluding the diagnosis of MDS based on follow up investigations and course of illness. Disclosures: No relevant conflicts of interest to declare.

Barth Syndrome and Severe Chronic Neutropenia.

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 3787-3787 ◽  
Author(s):  
Shannon Collins ◽  
Audrey Anna Bolyard ◽  
Tracy M. Marrero ◽  
Lan Phan ◽  
David C. Dale
Keyword(s):  
Bone Marrow ◽  
Bacterial Infections ◽  
Clinical Manifestations ◽  
Barth Syndrome ◽  
Growth Delay ◽  
Skin Infections ◽  
Day Range ◽  
Before And After ◽  
Clinically Significant ◽  
Chronic Neutropenia

Abstract Abstract 3787 Barth syndrome is an X-linked recessive genetic condition characterized by neutropenia, cardiomyopathy, growth delay, muscle weakness, and 3-methylglutaconic aciduria (an increase in organic acid caused by abnormal mitochondria). Its clinical manifestations are variable and can include fatigue, hypotonia, and dilated cardiomyopathy. Symptoms usually appear at birth or within the first few months of life. Mutations in the tafazzin (TAZ) gene cause Barth syndrome. The Severe Chronic Neutropenia International Registry (SCNIR) is building a base of information about the natural history and response to granulocyte colony stimulating factor (G-CSF) treatment for patients with Barth syndrome and other causes of chronic neutropenia. Through the SCNIR, we follow the clinical course and treatment of seven male subjects (median age 17 years, range: 6–28 years) with Barth syndrome observed for up to 11 years (median 9, range 3–11). Six of these seven subjects were neutropenic prior to G-CSF treatment, the median absolute neutrophil count (ANC) was 0.293 × 109/L (range 0 – 1.260). The seventh subject was not consistently neutropenic, median ANC 2.107 × 109/L (range 0.779 – 3.520). Sixteen bone marrow evaluations were performed on four of the seven subjects. Four of 16 bone marrows were prior to G-CSF exposure (3 subjects). Two of three subjects manifest eosinophilia in the marrow but not in the blood. Marrow exams for two of the three subjects' evaluations were read as normocellular marrow, and one of the three was read as hypocellular with a decrease in cells of the myeloid series. Twelve of the 16 bone marrow evaluations were performed in two subjects who were receiving G-CSF. One of the four subjects had bone marrow evaluations both before and after G-CSF exposure. His pre G-CSF evaluations displayed hypocellular bone marrow, and his post G-CSF evaluations showed normocellular bone marrow and eosinophilia. None of the marrow evaluations before or on G-CSF suggested myelodysplasia or showed evidence of acute myeloid leukemia. The six neutropenic subjects have all received G-CSF for a median of 96 months (range 28 – 137) at a median dose of 1.57 mcg/kg/day (range 0.43 to 2.18). The total G-CSF exposure for all six subjects is 507 months. The median ANC of the six subjects prior to G-CSF treatment was 0.293 × 109/L (range 0–1.260). The median ANC on G-CSF was 2.056 × 109/L (range 1.640–3.403). Prior to receiving G-CSF, three of the seven subjects reported mouth ulcers. Two of seven subjects reported skin infections, including one subject who reported infections around the G-tube used to maintain his nutritional status. One of seven subjects reported an episode of bacteremia. Of the six subjects who received G-CSF, three reported a reduced number of mouth ulcers and two of six reported reduced skin infections (G-tube, port-a-cath). None of the subjects experienced unusual side effects or clinically significant complications associated with G-CSF therapy. These data indicate that patients with Barth syndrome and neutropenia have ulcers and patterns of infections similar to other patients with chronic neutropenia. They are responsive to G-CSF treatment and it appears to be safe and effective to reduce their predisposition to bacterial infections. Disclosures: Dale: Amgen: Consultancy, Research Funding.

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