Pancytopenia With Predominant Thrombocytopenia in a 37-Year-Old Female With Li Fraumeni Syndrome

Abstract

Patient: 37-year-old Hispanic female. History of Present Illness: The patient is a known carrier of the TP53 mutation. Her surgical history includes a total abdominal hysterectomy, bilateral salpingo-oophorectomy, ovarian cystectomy, tonsillectomy, left upper chest port replacement, and fourth left toe amputation due to an Aspergillus infection. She has been diagnosed with gastroesophageal reflux disease, hypertension, and herpes simplex virus. The patient has frequent episodes of neutropenic fever along with other bacterial and viral infections secondary to stage I triple-positive breast cancer. She is on many medications to treat her numerous conditions. In summer 2011, she underwent a bilateral mastectomy, which presented with 1.3 cm infiltrating ductal carcinoma with high-grade ductal carcinoma in situ (DCIS) and negative sentinel lymph nodes. No malignancy was found in the left breast, only intraductal papilloma. Prior to the initiation of chemotherapy, she presented with new onset thrombocytopenia. Family History: Both the patient’s father and half brother have been diagnosed with brain tumors; her father subsequently expired. Several paternal aunts, first cousins, and a half sister were diagnosed with breast cancer prior to age 50. A paternal half sister has stage IV breast cancer with metastasis to the bone. Social History: Married, no children; denies any use of tobacco, alcohol, or illicit drugs. 1. Which of the patient’s laboratory findings are abnormal? 2. What does the patient’s peripheral smear reveal? Based on these findings, what is the differential diagnosis? Based on the principal laboratory results and peripheral blood smear findings, what additional test(s) is/are required to aid in the diagnosis? 3. What is the patient’s most likely diagnosis and what additional test(s) is/are appropriate to confirm diagnosis? 4. What is the significance of being a carrier for the TP-53 mutation? 5. What is the patient’s …