Unusual Bone Marrow Findings in a Patient with Congenital Amegakaryocytic Thrombocytopenia.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 1109-1109
Author(s):  
Melissa J. Rose ◽  
Kathleen K. Nicol ◽  
Thomas G. Gross ◽  
Bryce A. Kerlin
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Aspirate ◽  
Bone Marrow Failure ◽  
Amino Acid Position ◽  
First Year ◽  
Normal Numbers ◽  
Bone Marrow Failure Syndrome ◽  
Platelet Counts ◽  
Morphological Findings ◽  
First Year Of Life

Abstract BACKGROUND: Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare bone marrow failure syndrome that presents with isolated thrombocytopenia within the first year of life. Classic diagnostic bone marrow findings reveal absent or significantly decreased megakaryocytes with otherwise normal marrow cellularity. We present a case of a newborn with CAMT whose initial bone marrow aspirate showed an appropriate number of megakaryocytes. CASE: A caucasian male presented on day-of-life (DOL) 1 with petechiae and a platelet count of 13,000/mcL. Physical exam, WBC count and hemoglobin were otherwise normal. Alloimmune thrombocytopenia evaluation and CMV serology were negative. Platelet transfusions were required almost daily to maintain platelet counts >100,000/mcL in the neonatal period. Tibial bone marrow aspirate performed on DOL 21 revealed normocellular marrow with a normal number of immature megakaryocytes. Figure Figure Cytogenetics were normal and DNA breakage studies were negative. Beyond 1-month-of-age, platelet counts were maintained >25-30,000/mcL with 1–2 transfusions per week. Repeat bone marrow aspirate and biopsy on DOL 102, from the iliac crest, again was normocellular, but was now significant for marked megakaryocytic hypoplasia. Number of Megakaryocytes Found on Serial Bone Marrow Aspirates Age Patient Age-Matched Control 4 slides per aspiration site were examined at the feathered edge at 40× magnification. Data is expressed in average number of megakaryocytes/10 hpf 21 days 3 1.6 102 days 0 2.1 Mutation analysis of the gene responsible for the thrombopoietin receptor MPL was notable for a homozygous point mutation in exon 3, resulting in a substitution of proline for arginine at amino acid position 102. This missense mutation has been previously associated with CAMT. CONCLUSION: This is the third reported case of normal megakaryocyte numbers found on the initial bone marrow aspirate, in a patient who was later diagnosed with CAMT. CAMT should not be excluded from the differential diagnosis of persistent thrombocytopenia within the first year of life, solely based on normal numbers of megakaryocytes on the initial bone marrow. The presence of immature megakaryocytes may represent early morphological findings in CAMT.

RPL5 and RPL11 Diamond Blackfan Anaemia Patients Have An Increased Number Of Hypolabated and Non-Lobulated Megakaryocytes In The Bone Marrow

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 1229-1229
Author(s):  
Steven Leak ◽  
Yvonne Harrington ◽  
Josu de la Fuente
Keyword(s):  
Bone Marrow ◽  
Conflicts Of Interest ◽  
Bone Marrow Failure ◽  
Ribosomal Protein Genes ◽  
Normal Numbers ◽  
Bone Marrow Failure Syndrome ◽  
Maturation Arrest ◽  
Significant Difference ◽  
Erythroid Maturation ◽  
Diamond Blackfan Anaemia

Abstract Diamond Blackfan anaemia (DBA) is an inherited bone marrow failure syndrome most commonly presenting as a red cell aplasia in infancy. It is associated with physical abnormalities and an increased propensity to develop malignancy. DBA affects around 5 per million live births and in approximately 60% of the patients causative mutations in ribosomal protein genes have been documented. In vitro studies suggest that the erythroid maturation arrest occurs during the erythropoietin dependent stage of erythropoiesis occurring at the transition from the erythroid colony forming unit (CFU-e) to proerythroblasts. However, the morphological diagnosis of DBA can be difficult due to the heterogenous findings and the lack of a systematic review of the bone marrow features. Seventy-five patients with clinical and laboratory features consistent with Diamond Blackfan anaemia attend the DBA clinic at St. Mary’s Hospital. The median age is 8.8 years (0.7 – 41.9). Three patients presented in utero (3.9%), 46 patients (60.5%) in the first twelve weeks of life, 13 patients (17.1%) from 3 to 12 months, 10 patients (13.2%) 1 to 5 years, 2 patients (2.6%) 5 to 10 years, 1 patient (1.32%) 10 to 18 years and 1 patient (1.32%) later than 18 years of age. Fifty-one patients (67.1%) have systemic features [the heart involved in 22 patients (28.9%)], 7 patients (9.21%) have short stature only and 18 patients (23.6%) no systemic abnormalities. Thirty-nine patients (51.3%) are transfusion dependent, fifteen (19.7%) steroid responsive, seven (9.4%) are in remission, ten (13.1%) have undergone a bone marrow transplant achieving normal haemopoiesis, five (6.5%) have never developed anaemia of sufficient severity to warrant treatment and 3 are deceased (two transfusion dependent patients due to overwhelming sepsis and one following unrelated bone marrow transplantation). We reviewed the bone marrow aspirates of 29 DBA patients to identify with light microscopy a stage of erythroid maturation arrest and review the morphological features of the myeloid, lymphoid and megakaryocytic cell lineages. Morphological assessment was carried out in the form of a 500 cell differential, in addition to a blinded 500 erythroid:myeloid differential and 50 megakaryocyte assessment. The 500 erythroid:myeloid differential was performed for specific assessment of the erythroid lineage with cells being divided in to proerythroblasts, early, middle and late erythroblasts. Megakaryocyte morphology we specifically focused on nuclear lobulation, categorised as ‘non-lobulation’, ‘hypolobulation’ (second immature lobe) or ‘normal lobulation’. Ten control samples were used for comparison, collected from paediatric healthy bone marrow donors. The paucity of erythroid precursors was restricted to early, middle and late erythroblasts (p≤0.001), with no significant difference in proerythroblast numbers (p=0.26). There was a greater number of non-lobulated megakaryocytes in DBA patients than controls (p=0.009). However, on further characterisation by mutation analysis, only those with the RPL5 and RPL11 mutation maintained the statistical difference, demonstrating that non-lobulation was restricted to this population (figure 1). No correlation with the peripheral platelet count was found. In conclusion, there is a morphologically identifiable stage of erythroid maturation arrest in diagnostic bone marrow aspirates, with retention of normal numbers of proerythroblasts in some patients. There are significantly increased numbers of hypo and non-lobulated megakaryocytes in RPL5/RPL11 DBA patients adding to a growing body of evidence that RPL5 and RPL11 may have particular characteristic features representing a distinct subcategory of DBA. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Lactic Acidosis in a Congenital Bone Marrow Failure Syndrome

2021 ◽  
pp. 1-4
Author(s):  
Fatima Farid Mir ◽  
Anjan Madasu ◽  
Hani Humad ◽  
Asim Noor Rana
Keyword(s):  
Bone Marrow ◽  
Mitochondrial Dna ◽  
Metabolic Acidosis ◽  
Lactic Acidosis ◽  
Liver Failure ◽  
Bone Marrow Failure ◽  
Disease Course ◽  
Bone Marrow Failure Syndrome ◽  
Severe Lactic Acidosis ◽  
End Stage

Fifteen-month-old male child, known to have a congenital bone marrow failure syndrome, presented in a state of shock with severe lactic acidosis following a brief episode of vomiting. Hospital stay was complicated by recurrent bouts of metabolic acidosis and progressive hepatic failure. Blood mitochondrial DNA sequencing revealed a large heteroplasmic 4,977 bp mitochondrial deletion (approximately 40% of all mitochondrial copies) suggestive of Pearson marrow-pancreas syndrome. By virtue of natural disease course, within a month of admission child succumbed to end-stage liver failure with multi-organ failure and died.

Hepatitis-associated Aplastic Anemia Presenting as a Familial Bone Marrow Failure Syndrome

2009 ◽  
Vol 31 (11) ◽  
pp. 884-887 ◽  
Author(s):  
Vicky Rowena Breakey ◽  
Stephen Meyn ◽  
Vicky Ng ◽  
Christopher Allen ◽  
Inderjeet Dokal ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Aplastic Anemia ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndrome

scholarly journals 7. Congenital Bone Marrow Failure Syndrome

2012 ◽  
Vol 101 (7) ◽  
pp. 1977-1985
Author(s):  
Seiji Kojima ◽  
Miharu Yabe
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndrome

scholarly journals A Neonate with Down’s Syndrome and Transient Abnormal Myelopoiesis: Serial Blood and Bone Marrow Studies

Blood ◽  
1970 ◽  
Vol 36 (4) ◽  
pp. 443-447 ◽  
Author(s):  
TAKESHI NAGAO ◽  
BEATRICE C. LAMPKIN ◽  
GEORGE HUG
Keyword(s):  
Bone Marrow ◽  
Marrow Cell ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Male Infant ◽  
First Year ◽  
Electron Microscopic ◽  
Transient Abnormal Myelopoiesis ◽  
Microscopic Studies ◽  
First Year Of Life

Abstract Observations were made of the blood and bone marrow of a male infant with Down’s syndrome during the first year of life. At 4 days of age there were 36,500 myeloblasts/cu.mm. in the blood and 10.8 per cent myeloblasts in the marrow. Initially it appeared the patient had acute myeloblastic leukemia. However, the clinical course and kinetic and electron microscopic studies of his bone marrow cell population indicate he did not have acute leukemia.

scholarly journals ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

2014 ◽  
Vol 94 (2) ◽  
pp. 246-256 ◽  
Author(s):  
Hemanth Tummala ◽  
Michael Kirwan ◽  
Amanda J. Walne ◽  
Upal Hossain ◽  
Nicholas Jackson ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Dna Repair ◽  
Mitochondrial Function ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndrome

scholarly journals Expression of embryonic zeta-globin and epsilon-globin chains in a 10- year-old girl with congenital anemia

Blood ◽  
1993 ◽  
Vol 81 (6) ◽  
pp. 1636-1640
Author(s):  
W Tang ◽  
SP Cai ◽  
B Eng ◽  
MC Poon ◽  
JS Waye ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Normal Level ◽  
Bone Marrow Aspirate ◽  
First Year ◽  
Severe Anemia ◽  
Undetectable Level ◽  
Hemoglobin F ◽  
Globin Chains ◽  
New Variant

A 10-year-old Danish girl with congenital anemia is described. At birth, she had severe anemia and erythroblastosis and was transfused a number of times during the first year. The need for transfusions has since declined steadily. Her reticulocyte counts varied between 2% and 15%, and her bone marrow aspirate showed some dyserythropoietic features. Her hemoglobin F level was consistently elevated, up to as much as 41%. Her erythrocytes had a normal level of I antigen but an undetectable level of i antigen. Moreover, embryonic zeta-globin and epsilon-globin chains were present in some of her circulating erythrocytes. These findings may represent the manifestations of a new variant of congenital anemia.

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