Bone marrow failure syndromes

Bone Marrow Failure Syndromes

Bone Marrow Failure Part 1

Are patients with Fanconi Anemia more susceptible to basal cell carcinoma or squamous cell carcinoma of the skin ? 

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SCC

Bone Marrow Failure Part 1
Bone marrow failure syndromes Part 1

What are the indications for paroxysmal nocturnal hemoglobinuria anticoagulation prophylaxis?

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Platelets above 100,000, Coumadin preferred, 50% PNH clone presence, no other contraindications to
anticoagulation

Bone marrow failure syndromes Part 1
Bone marrow failure syndromes

How do you treat PRCA secondary to parvovirus B19 IgG or IgM?

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IVIG with or without immunosuppressive therapies

Bone marrow failure syndromes
Bone marrow failure syndromes

Which 2 bone marrow failure syndromes can cause squamous cell carcinoma?

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Dyskeratosis congenita and Fanconi Anemia

Bone marrow failure syndromes
Bone marrow failure syndromes

What are the characteristics of Job syndrome ?

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High IgE, high eosinophilia, eczema, hyperextensibility, scoliosis, osteopenia

Bone marrow failure syndromes
Bone marrow failure syndromes

Which mutation causes Job syndrome ?

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STAT3

Bone marrow failure syndromes
Bone marrow failure syndromes

Which solid tumors are most common with Diamond Blackfan anemia?

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Sarcoma

Bone marrow failure syndromes
Bone marrow failure syndromes

What are the characteristics of Bloom syndrome?

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High-pitched voice, infertility, High incidence of cancers, short stature, sun sensitive skin, large ears

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the difference between non-stem cell transplant treatments for dyskeratosis congenita and Fanconi
anemia versus Diamond Blackfan?

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Diamond Blackfan – prednisone
Dyskeratosis Congenita and Fanconi anemia – androgens

Bone marrow failure syndromes
Bone marrow failure syndromes

What unique physical exam features distinguishes congenital dyserythropoietic anemia have?

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Hypoplastic ribs, café au lait spots, syndactyly

Bone marrow failure syndromes
Bone marrow failure syndromes

Which treatment can be attempted in aplastic anemia patients who fail ATG and cyclosporine (horse
and rabbit) ?

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Eltrombopag

Bone marrow failure syndromes
Bone marrow failure syndromes

Which conditioning regimen is used for allogenic stem cell transplant for aplastic anemia?

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ATG + CsA 4000 mg/m2
No total body radiation irradiation or busulfan

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the mutation in congenital amegakaryocytic thrombocytopenia?

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MPL

Bone marrow failure syndromes
Bone marrow failure syndromes

Which congenital anemia syndrome has defects in the radii of their arms ?

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Diamond Blackfan

Bone marrow failure syndromes
Bone marrow failure syndromes

Which cellular organelle does Pearson syndrome effect ?

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Mitochondria

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the inheritance pattern of shwachman diamond syndrome?

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Bi-allelic mutations of the SBDS gene 7q11

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the cause of Shwachman diamond anemia ?

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failure to generate ribosomal 60s subunit

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the severe form of Shwachman Diamond anemia called ?

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Pearson Syndrome

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the difference between solid and hematologic malignancies with respect to age in Fanconi
anemia?

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The incidence of AML plateaus but the incidence of solid malignancies continues to increase linearly

Bone marrow failure syndromes
Bone marrow failure syndromes

What would hemoglobin electrophoresis show for Fanconi anemia?

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High hemoglobin F

Bone marrow failure syndromes
Bone marrow failure syndromes

What are the 2 different inheritance pattern for Fanconi anemia ?

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Autosomal recessive inheritance and X-linked recessive

Bone marrow failure syndromes
Bone marrow failure syndromes

Which mutation is responsible for congenital amegakaryocytic thrombocytopenia ?

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TPO receptor AKA MPL gene

Bone marrow failure syndromes
Bone marrow failure syndromes

Which signs and symptoms can help distinguish Blackfan Diamond anemia from Shwachman Diamond
Anemia?

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Presence of pancreatitis is suggestive of Shwachman

Bone marrow failure syndromes
Bone marrow failure syndromes

Which special test can help determine Blackfan Diamond anemia ?

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Red blood cell ADA enzyme

Bone marrow failure syndromes
Bone marrow failure syndromes

Which gene mutations are responsible for Diamond Blackfan syndrome?

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RPS19

Bone marrow failure syndromes
Bone marrow failure syndromes

Which inheritance pattern is seen with dyskeratosis congenita?

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autosomal dominant, autosomal recessive, sex-linked

Bone marrow failure syndromes
Bone marrow failure syndromes

What cancers are dyskeratosis congenita patient susceptible to?

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Head and neck cancer

Bone marrow failure syndromes
Bone marrow failure syndromes

Where is the chromosomal defect in dyskeratosis congenita?

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Telomerase defect

Bone marrow failure syndromes
Bone marrow failure syndromes

How is Fanconi anemia diagnosed?

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DNA damage with mitomycin to assess for chromosome breaks

Bone marrow failure syndromes
Bone marrow failure syndromes

Which supportive growth factors are acceptable for Fanconi anemia?

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Neupogen and Depo

Bone marrow failure syndromes
Bone marrow failure syndromes

What must be taken into consideration when performing an allogeneic stem cell transplant for Fanconi
anemia?

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Lower dose chemotherapy and radiotherapy for conditioning because of high susceptibility to secondary
malignancies

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the first line treatment for Fanconi anemia?

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Androgens plus steroids

Bone marrow failure syndromes
Bone marrow failure syndromes

Which primary and secondary cancers are most common with Fanconi anemia?

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Squamous cell carcinoma of the head and neck, vulva, skin

Bone marrow failure syndromes
Bone marrow failure syndromes

What does the bone marrow biopsy in Fanconi anemia show?

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Hypocellular bone marrow

Bone marrow failure syndromes
Bone marrow failure syndromes

What are 2 erythroid lineage bone marrow failure syndromes?

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Diamond Blackfan syndrome and shwachman diamond syndrome

Bone marrow failure syndromes
Bone marrow failure syndromes

Which 2 multilineage bone marrow failure syndromes are important?

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Fanconi anemia
Dyskeratosis Congenita

Bone marrow failure syndromes
Bone marrow failure syndromes Part 2

Which gene is responsible for Schwartzman Diamond syndrome?

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SBDS gene

Bone marrow failure syndromes Part 2
Bone marrow failure syndromes

What presentation of Schwartzman Diamond helps distinguish it from other BM failure syndromes?

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Pancreatitis and neutropenia

Bone marrow failure syndromes
Bone marrow failure syndromes

Which bone marrow failure syndrome has associated pancreatitis ?

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Schwachman Diamond

Bone marrow failure syndromes
Bone marrow failure syndromes

Which bone marrow failure syndrome has the highest head and neck squamous cell carcinoma risk?

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Diskeratosis congenita

Bone marrow failure syndromes
Bone marrow failure syndromes

Which 2 tests can help with a diagnosis of Diamond Blackfan anemia?

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Hemoglobin F and red blood cell ADA

Bone marrow failure syndromes
Bone marrow failure syndromes

Which lung pathology develops in dyskeratosis congenita?

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Idiopathic pulmonary fibrosis

Bone marrow failure syndromes
Bone marrow failure syndromes

Which bone marrow failure syndrome is secondary to a telomere defect?

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Dyskeratosis congenita

Bone marrow failure syndromes
Bone marrow failure syndromes

Which congenital bone marrow failure has oral leukoplakia?

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Dyskeratosis congenita

Bone marrow failure syndromes
Bone marrow failure syndromes

What is a major side effect of androgens for Fanconi anemia?

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Liver tumor

Bone marrow failure syndromes
Bone marrow failure syndromes

Which therapy works for inherited bone marrow failure syndromes but does not acquired BM failure
syndromes?

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Androgens

Bone marrow failure syndromes
Bone marrow failure syndromes

What are the top 3 diagnoses on the differential for hypocellular bone marrow biopsy?

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hypocellular myelodysplastic syndrome
,Aplastic anemia, bone marrow failure syndromes including Fanconi anemia, dyskeratosis congenita,
diamond Blackfan syndrome, shwachman diamond syndrome

Bone marrow failure syndromes
Bone marrow failure syndromes

Which country has the highest incidence of aplastic anemia?

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Thailand

Bone marrow failure syndromes
Bone marrow failure syndromes

which single treatment modality is available for acquired versus inherited bone marrow failure
syndrome?

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ATG and cyclosporine as an option for acquired but not for inherited BM failure syndrome

Bone marrow failure syndromes
Bone marrow failure syndromes

What side effect must be monitored with danazol?

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Liver function tests

Bone marrow failure syndromes
Bone marrow failure syndromes

Which test is diagnostic of Fanconi anemia?

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Mitomycin-induced lymphocyte chromosome breaks

Bone marrow failure syndromes
Bone marrow failure syndromes

Which infections are commonly seen with Job syndrome?

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Candida infections

Bone marrow failure syndromes
Bone marrow failure syndromes

Which disease has an MPL mutation?

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Congenital thrombocytopenia

Bone marrow failure syndromes
Bone marrow failure syndromes

If a lymphocyte DNA damage test is negative in a patient with high suspicion for Fanconi anemia, what other test can aid in making the diagnosis?

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Repeat the test on skin fibroblasts

Bone marrow failure syndromes
Bone marrow failure syndromes

What conditioning regimen is recommended for patients with aplastic anemia?

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Cytoxan and ATG

Bone marrow failure syndromes
Bone marrow failure syndromes

What therapy can be offered to patients with severe aplastic anemia who fail rabbit and hoarse ATG but
are not candidates for stem cell transplant?

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TPO mimetic such as eltrombopag

Bone marrow failure syndromes
Bone marrow failure syndromes

What laboratory and physical exam anomalies are seen with congenital dyserythropoietic anemia?

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Labs – Elevated bilirubin, iron overload
PE- splenomegaly

Bone marrow failure syndromes
Bone marrow failure syndromes

Which of the bone marrow failure syndromes respond to steroids?

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Diamond Blackfan

Bone marrow failure syndromes
Bone marrow failure syndromes

Is there any concern for hematologic malignancies in Kostman syndrome?

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yes

Bone marrow failure syndromes
Bone marrow failure syndromes

Which therapy is indicated for the treatment of WHIM ?

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Prelixofor

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the mutation that drives WHIM syndrome?

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CXCR4

Bone marrow failure syndromes
Bone marrow failure syndromes

What is a difference between Bloom syndrome and Fanconi anemia with respect to chromosome
breaks?

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The presence of chromosome breaks before mitomycin and DEB

Bone marrow failure syndromes
Bone marrow failure syndromes

Which mutation and which cytogenetic abnormalities are most common with Shwachman Diamond
syndrome?

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SBDS mutation, monosomy 7

Bone marrow failure syndromes
Bone marrow failure syndromes

Which solid tumor is most common with Diamond Blackfan anemia?

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Sarcoma

Bone marrow failure syndromes
Bone marrow failure syndromes

Which genes are commonly seen mutated in dyskeratosis congenita?

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DKC, ERC, TERT, TINF2

Bone marrow failure syndromes
Bone marrow failure syndromes

What physical exam feature is seen in the oral cavity of job syndrome?

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2 rows of teeth

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the first-line treatment for parvovirus B19 induced pure red cell aplasia?

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IVIG

Bone marrow failure syndromes
Bone marrow failure syndromes

Which bone marrow failure syndrome has the highest propensity for squamous cell carcinoma?

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Dyskeratosis congenita

Bone marrow failure syndromes
Bone marrow failure syndromes

What percentage of PNH clones require treatment?

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More than 10%

Bone marrow failure syndromes
Bone marrow failure syndromes

Does paroxysmal nocturnal hemoglobinuria cause a hypocellular or hypercellular bone marrow ?

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Hypercellular, this is different from aplastic anemia associated PNH

Bone marrow failure syndromes
Bone marrow failure syndromes

Which 2 physical exam features are notable in Fanconi anemia ?

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Short stature and microcephaly

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the long-term outcome of patients with thrombocytopenia with absent radii?

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High percentage self resolution

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the systemic treatment for WHIM?

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Growth factor and IVIG

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the local treatment of skin lesions for WHIM?

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Surveillance and removal of HPV positive skin lesions

Bone marrow failure syndromes
Bone marrow failure syndromes

What mutation leads to WHIM?

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CXCR4

Bone marrow failure syndromes
Bone marrow failure syndromes

What does myelokathexis mean?

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Retention of neutrophils in the bone marrow

Bone marrow failure syndromes
Bone marrow failure syndromes

What is the inheritance pattern of WHIM?

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Autosomal dominant

Bone marrow failure syndromes
Bone marrow failure syndromes

What do the neutrophils look like on a smear for myelokathexis?

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4 leaf clover appearance

Bone marrow failure syndromes
Bone marrow failure syndromes

What does WHIM stand for?

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Warts hypogammaglobulinemia infection myelokathexis

Bone marrow failure syndromes
Bone marrow failure syndromes

Which protein is defective with diamond Blackfan syndrome?

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RPS19

Bone marrow failure syndromes
Bone marrow failure syndromes

Which of the bone marrow failure syndromes can see spontaneous resolution with steroids and should
not be offered bone marrow transplant up-front ?

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Diamond Blackfan syndrome

Bone marrow failure syndromes
Bone marrow failure syndromes

Which inherited MDS/AML mutation leads to a high risk of developing acute myeloid leukemia ?

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RUNX1

Bone marrow failure syndromes
Bone marrow failure syndromes

How do you treat WHIM syndrome?

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Prelixafor

Bone marrow failure syndromes
Bone marrow failure syndromes

What complete blood count changes are seen with Fanconi anemia?

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Elevated MCV

Bone marrow failure syndromes
Bone marrow failure syndromes

Which cells can be used for culture to make a diagnosis of Fanconi anemia?

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Lymphocytes and skin fibroblasts – do not use bone marrow cells

Bone marrow failure syndromes
Bone marrow failure syndromes Part 1

Which 2 agents should be used for Fanconi anemia testing?

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DiEpoxy Butane and mitomycin

Bone marrow failure syndromes Part 1
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