Q465: Inherited Bone Marrow Failure Syndromes

*Note: Primary Disease for Infusion: If the recipient was diagnosed with an inherited bone marrow failure syndrome and developed MDS or AML, report the primary disease for infusion as MDS or AML, respectively.

Question 1: Date of diagnosis of primary disease for HCT / cellular therapy

Report the date of the first pathological diagnosis (e.g., bone marrow or tissue biopsy) of the disease or the date of genetic / molecular testing. Enter the date the sample was collected for examination. If the diagnosis was determined at an outside center, and no documentation of a pathological or laboratory assessment is available, the dictated date of diagnosis within a physician note may be reported. Do not report the date symptoms first appeared.

If diagnosed in utero, report the date of birth as the diagnosis date.

For any congenital diseases, the date of birth should be reported as the diagnosis date.

If the exact diagnosis date is not known, use the process described in General Instructions, Guidelines for Completing Forms.

Questions 465: Specify the inherited bone marrow failure syndrome classification

Indicate the inherited bone marrow failure syndrome classification of the primary disease for infusion.

• Diamond-Blackfan anemia: A rare genetic disorder that affects the ability of the marrow from producing red blood cells. These recipients may present with anemia but may also exhibit physical abnormalities such as: small head size, cleft lip, webbed neck, defects of the hands and a short stature.

If Diamond-Blackfan anemia is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

• Telomere Biology Disorders including Dyskeratosis congenita (DKC1, TERT, TERC, and other mutations): A genetic form of a bone marrow failure where the recipient is unable to produce sufficient blood cells. Subdivisions of dyskeratosis congenita includes dyskeratosis congenita (autosomal dominant), Scoggins type, dyskeratosis congenita (autosomal recessive), dyskeratosis congenita (X-linked), Zinsser-Cole-Engleman syndrome, Hoyeraal-Hreidarsson syndrome, and Revesz syndrome.

If Telomere Biology Disorders including Dyskeratosis congenita (DKC1, TERT, TERC, and other mutations) is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

• Fanconi anemia: A rare genetic blood disorder that prevents the body from producing a sufficient number of new blood cells to function properly. Abnormal blood cells may also be produced. These recipients are short in stature, exhibit skeletal abnormalities, and have an increased risk of developing solid tumors, MDS, and leukemias.

If Fanconi anemia is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Fanconi Pre- and Post-Infusion (2029 / 2129) forms will come due.

• Severe congenital neutropenia (Elastase deficiency / ELAINE or Kostmann disease / HAX1 mutations): A rare group of disorders that are characterized by neutropenia. These disorders are present at birth. Kostmann syndrome is included in this disease classification.

If Severe congenital neutropenia (Elastase deficiency / ELAINE or Kostmann disease / HAX1 mutations) is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, no disease specific forms will come due.

• Shwachman-Diamond syndrome (DNAJC21, EFL1, or SBDS mutations): A rare autosomal recessive disorder which is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.

If Shwachman – Diamond (DNAJC21, EFL1, or SBDS mutations) is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

• Germline SAMD9 variant (MIRAGE Syndrome): A rare genetic disorder which is characterized by myelodysplasia (M), infection (I), restrictions of growth ®, adrenal hypoplasia (A), genital phenotypes (G)m and enteropathy (E).

If Germline SAMD9 variant (MIRAGE Syndrome) is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

• Germline SAMD9L variant (SAMD9L-related Ataxia Pancytopenia Syndrome)*: A rare genetic disorder characterized by variable hematologic cytopenias and cerebellar ataxia with a predisposition to bone marrow failure, MDS, and AML.

If Germline SAMD9L variant (SAMD9L-related Ataxia Pancytopenia Syndrome) is selected and the recipient is randomized to the Comprehensive Report Form (CRF) track, the Aplastic Anemia Pre- and Post-Infusion (2028 / 2128) forms will come due.

If the primary disease for infusion is not listed, select Other inherited bone marrow failure syndrome.

Section Updates:

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