Pancytopenia is a common indication for bone marrow examination and can have numerous causes. Cytotoxic therapies, including myeloablative radiation therapy and chemotherapy, are common, but predictable, causes of pancytopenia in patients being treated systemically for neoplasia. New-onset pancytopenia outside this setting, in both children and adults, can prove to be a diagnostic dilemma, and causes include congenital and acquired bone marrow failure syndromes, marrow space-occupying lesions, peripheral destruction of hematopoietic cells, autoimmune disorders, infection, and ineffective marrow production. Often, the workup of new-onset pancytopenia is extensive and should include a detailed clinical, medication, recreational drug, and environmental exposure history. Although bone marrow examination often reveals an underlying condition causing pancytopenia, it is not always conclusive. Understanding the various disorders that may cause pancytopenia can aid in the recommendation of additional testing and clinical evaluation when the marrow studies are not specific for a single etiology. Here, we provide a systematic overview of many of the causes of new-onset pancytopenia.

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Many diseases can cause bone marrow failure, resulting in greatly reduced to absent hematopoiesis with subsequent pancytopenia. Inherited causes of bone marrow failure encompass a small but important group of these diseases Table 1 Although rare, these diseases should always be considered as a potential cause of new-onset pancytopenia in children because they have serious clinical and treatment implications. Fanconi anemia (FA), first reported in 1927,1 describes a syndrome of chromosomal instability characterized by progressive pancytopenia in addition to cancer susceptibility and congenital abnormalities. Although the congenital abnormalities initially described by Fanconi1 included skeletal abnormalities of the radius and thumb, small stature, and urogenital abnormalities, these abnormalities have been extended to include gastrointestinal and neurologic abnormalities in addition to more generalized skeletal defects.2 However, the clinical presentation of congenital abnormalities can vary widely, and 40% of affected patients report no physical findings.2 Approximately 10% of patients with FA develop leukemia, predominantly myeloid, with a smaller proportion, approximately 5%, developing solid tumors, including squamous cell carcinomas of the aerodigestive tract,3 at an incidence of 500- to 700-fold higher than the general population.

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Source: https://academic.oup.com/ajcp/article/doi/10.1309/AJCP50AEEYGREWUZ/1765887/The-Differential-Diagnosis-and-Bone-Marrow
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