Table 1.

Hereditary hematopoietic malignancies screening form.

Step 1: Draw the family pedigree using standard symbols
Step 2: Utilize screening questions to guide workup [see Table 1 of Ref. (1) for specific syndromes corresponding to letter designations]	Consider:
Do you/does anyone in your family have chronic low blood counts, including low red blood cells (anemia), low platelets (thrombocytopenia or ITP), low white blood cells (leukopenia, monocytopenia, and lymphopenia)? Has anyone required a transfusion for a low blood count?	ANRD26, ETV6, RUNX1, GATA2, TERC/TERT, inherited bone marrow failure syndromes, Fanconi anemia, SAMD9, and SAMD9L
Did you or did anyone in your family have thrombocytopenia and/or anemia requiring transfusions in early infancy?	SAMD9
Did you/does anyone in your family bleed or bruise easily? If yes, have they required transfusions for bleeding?	ANKRD26, ETV6, and RUNX1
Do you/does anyone in your family have or have had warts (genital, hands, feet, or any other site?) If yes, where and for how many years?	GATA2
Do you/does anyone in your family get infections easily or severe or unusual types of infections? If yes, how many infections and what type? (e.g., pneumonia, meningitis, sepsis, and fungal) and at what age(s)? Did they require hospitalization or antibiotics?	GATA2, inherited bone marrow failure syndromes, Fanconi anemia, and SAMD9
Does anyone in the family have swelling of one limb larger than the others (also known as lymphedema)? If yes, what limb and is there a known reason why that limb is swollen?	GATA2
Do you/does anyone in your family have deafness? If yes, at what age did it occur and is there a known reason for why that person cannot hear?	GATA2, SRP72, and inherited bone marrow failure syndromes
Do you/does anyone in your family have abnormal nails (e.g., misshapen or missing not due to injury)?	TERC/TERT, inherited bone marrow failure syndromes, and Fanconi anemia
Did you/does anyone in your family get grey hair in their 20s or earlier? Whom and at what age?	TERC/TERT and inherited bone marrow failure syndromes
Have you or anyone in your family had skin cancer or abnormal coloration of the skin, especially around the neck region?	TERC/TERT, inherited bone marrow failure syndromes, Fanconi anemia, and Lynch syndrome
Have you/anyone in your family had a specific skin problem called eczema?	RUNX1
Do you or does anyone in your family have lung disease, including pulmonary fibrosis, or early onset emphysema?	TERC/TERT and inherited bone marrow failure syndromes
Do you or does anyone in your family have a lung disease called pulmonary alveolar proteinosis?	GATA2
Do you/does anyone in your family have a liver disease called cirrhosis? If yes, at what age and is there a known reason why you/they have cirrhosis (for example, heavy alcohol use)?	TERC/TERT and inherited bone marrow failure syndromes
Have you or other family members had other types of cancer, such as head and neck cancer?	TERC/TERT, inherited bone marrow failure syndromes, Fanconi anemia, Li–Fraumeni syndrome (LFS), and BRCA1/2
Have you or other family members had other types of cancer, such as cervical or anal cancer?	TERC/TERT, inherited bone marrow failure syndromes, Fanconi anemia, and LFS
Have you or other family members had other types of cancer, such as early-onset breast cancer, sarcoma, or brain or colon cancers?	LFS, BRCA1/2, and Lynch syndrome
Did you or anyone in your family have growth restriction during both the prenatal and postnatal periods?	Inherited bone marrow failure syndromes and SAMD9
Do you or does anyone in your family have short stature?	Fanconi anemia and SAMD9
Do you or does anyone in your family have intellectual impairment?	Inherited bone marrow failure syndromes, Fanconi anemia, and SAMD9
Do you or does anyone in your family have adrenal insufficiency or hyperpigmentation of the skin?	Fanconi anemia, SAMD9
Do you or does anyone in your family have genital underdevelopment (i.e., microphallus, cryptorchidism, hypospadias, or hypoplastic ovaries)?	Fanconi anemia and SAMD9
Did you or did anyone in your family have delayed puberty or show limited signs of puberty?	Fanconi anemia and SAMD9
Are there any unexplained newborn deaths in the family?	SAMD9
Do you or has anyone in your family have a history of chronic diarrhea? If yes, was there colonic dilatation?	SAMD9
Do you or does anyone in your family have ataxia (lack of muscle coordination affecting voluntary movements such as walking)?	SAMD9L
Step 3: Determine exposure history
Do you smoke? If yes, how many packs per day?
Do you drink alcohol? If yes, how many drinks per day?
Have you been exposed to pesticides? If yes, for what career, what agents, and for how many years?
Have you been exposed to radiation and/or chemotherapy? If yes, what drugs or type of radiation were you exposed to and for what reason?
Have you been exposed to other chemicals such as benzene? If yes, what chemicals, why, and for how long?
Have you been exposed to endocrine disrupting chemicals (i.e., phthalate and bisphenol A) or synthetic estrogen such as diethylstilbestrol?

This table was modified with permission from its original version, published in Ref. (1).