Numerous hemoglobin (Hb) gene mutations have been identified, leading to a spectrum of phenotypes ranging from asymptomatic carrier states to complicated hemolytic anemias. We report a rare case of asymptomatic hypoxemia in a father and his teenage daughter both of whom were found to be carriers of Hb gene variant Zara. Workup for alternative cardiovascular causes of hypoxemia was unremarkable. Further sequencing of the alpha globin locus showed both individuals to be heterozygous for the Hb Zara c.274C>A (p.Leu92Ile) variant of unknown significance in the alpha2-globin gene. This is the first documented association of this Hb variant with familial asymptomatic hypoxemia, highlighting the importance of evaluating for hemoglobinopathies in patients with reduced oxygen saturation.
Background: Neoadjuvant endocrine therapy (NET) has long been limited to patients who were deemed medically unfit for immediate surgery or on clinical trials. Coronavirus disease 2019 (COVID-19) resulted in a global pandemic, which led to deferral of elective surgeries including breast surgeries for early stage breast cancer patients during March - June 2020. Institutional guidelines were developed based on societal recommendations, including NCCN, to use NET as a bridge to surgery. Objective: Primary objective was to establish a database of early stage HR+ Her2/neu- breast cancer patients diagnosed during COVID-19 who were treated with NET as a bridge to surgery. Secondary endpoints include correlation between duration of NET and changes in pathological variables. Method: This was a single institution, retrospective observational study from Perlmutter Cancer Center at NYU Langone Hospital and NYU Langone Hospital - Long Island of DCIS and early stage breast cancer patients diagnosed from March 15, 2020 - June 1, 2020 during COVID-19 pandemic. Inclusion criteria were males and females older than 18 years of age and initial diagnosis of DCIS or early stage HR+ Her2/neu- breast cancer who did not require neoadjuvant chemotherapy by established guidelines. Descriptive statistics were calculated separately by DCIS and invasive breast cancer using SAS version 9.4. Results: From March 15 - June 1, 2020, 13 patients who were diagnosed with DCIS and 41 patients with early stage HR+ Her2/neu- invasive breast cancer received NET (Table 1). Of the 41 patients with invasive breast cancer, 19 (46%) had Oncotype DX assay on biopsy specimens; 12/19 (63%) had scores 10-14 and 7/19 (37%) had scores 15-25. 38/41 (92.7%) had post-surgery Ki-67% and 16/38 (42.1%) demonstrated maturation arrest (Ki-67 <2.7%). 26/41 (63%) invasive breast cancer patients had pre and post Ki-67% checked while on aromatase inhibitors (AI); 21/26 (81%) had a decrease in Ki-67%, 2/26 (7.7%) patients had no change, and 3/26 (11.5%) had an increase. Of those 21 patients, the percent change of Ki-67% from baseline was mean 69.15% ± 22.58 and median 71.83%. No significant associations with changes (pre to post) in Ki-67%, T stage, ER% and PR% in NET for ≤4 weeks and >4 weeks (Table 2). Median duration of NET in invasive breast cancer was 6.85 weeks. 1 patient had a complete pathological response after NET and 2 patients were upstaged from DCIS to invasive carcinoma at the time of surgery. Conclusion: While the sample sizes are small, this is a unique cohort of early stage surgically resectable breast cancer patients who were treated with NET during the COVID-19 pandemic. This real-world data confirms pathological changes, especially decrease in Ki-67% even with short duration use of NET that has been reported in trials of neoadjuvant AI. Long term follow-up for survival outcome is planned. Table 1.Demographics of early stage breast cancer patients diagnosed during COVID-19.DCIS (n=13)Invasive Breast Cancer (n=41)Total (n=54)Menopause status (n, %)Pre-menopause7 (53.8)6 (14.6)13 (24.1)Post-menopause6 (46.2)35 (85.4)41 (75.9)Diagnosis (n, %)Self-Palpated08 (19.5)8 (14.8)Screening13 (100)33 (80.5)46 (85.2)Age (n, %)≤503 (23.1)5 (12.2)8 (14.8)50+10 (76.9)36 (87.8)46 (85.2)Clinical Stage (n, %)Tis13 (100)013 (24.1)I037 (90.2)37 (68.5)II04 (9.8)4 (7.4)NET in weeks (n, %)≤43 (23.1)11 (26.8)14 (25.9)4+10 (76.9)30 (73.2)40 (74.1)Genomic Testing (n, %)Oncotype DX019 (86.4)19 (86.4)ProSigna03 (13.6)3 (13.6)Mammaprint000 Table 2.No significant associations with changes in pre to post in T stage, ER%, PR% or Ki-67% in patients treated with NET for ≤4 weeks and >4 weeks.≤4 weeks>4 weeksp-valueChange in T stage0.5810Decrease2 (27.27%)8 (26.67%)No change7 (63.64%)15 (50%)Increase1 (9.09%)7 (23.33%)Change in ER%0.2444Decrease4 (36.36%)9 (30%)No change4 (36.36%)5 (16.67%)Increase3 (27.27%)16 (53.33%)Change in PR%1.0000Decrease7 (70%)21 (70%)No change2 (20%)5 (16.67%)Increase1 (10%)4 (13.33%)Change in Ki-67%0.3224Decrease4 (66.67%)17 (85%)No Change1 (16.67%)1 (5%)Increase1 (16.67%)2 (10%) Citation Format: Julie Huang, Joshua Feinberg, Bahram Dabiri, Jordan Baum, Meredith Akerman, Anthony Pasquarella, Abhinav Rohatgi, Shubhada Dhage, Amber Guth, Nina D'Abreo. Neoadjuvant endocrine therapy (NET) as bridge therapy for early stage breast cancer during COVID-19: A single institution experience [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P2-15-03.
Background: Coronavirus disease 2019 (COVID-19) resulted in a global pandemic, which led to deferral of surgeries for early stage breast cancer during March - June 2020. Institutional guidelines were developed to use neoadjuvant endocrine therapy (NET) as a bridge to surgery. As a follow up to initial data presented at SABCS 2020 demonstrating patient acceptance of NET, the present study provides results from a survey which explored psychosocial factors associated with medication compliance. Objective: Primary objective was to identify any barriers to compliance with NET. Method: This was a single institution, prospective study that surveyed patients diagnosed with DCIS and early stage breast cancer at Perlmutter Cancer Center at NYU Langone Hospital and NYU Langone Hospital - Long Island from March 15, 2020 - June 1, 2020. Questions were based on the Beliefs about Medicines Questionnaire specific for endocrine therapy (BMQ-AET) and the Medication Adherence Report Scale. Responses were recorded on a Likert scale and included 7 questions regarding perceptions about breast cancer treatment, 10 questions addressing experience with NET, and 5 questions gauging at adherence to NET. Inclusion criteria were males and females older than 18 years old, with an initial diagnosis of DCIS or early stage HR+ Her2/neu- breast cancer, who were prescribed NET. Descriptive statistics were calculated and subgroups were compared using Fisher’s exact tests. Analyses were performed using SAS version 9.4. Results: From March 15 - June 1, 2020, 13 patients were diagnosed with DCIS and 29 patients with HR+ Her2/neu- breast cancer for whom NET was recommended. Demographics are shown in Table 1. All 42 patients were female with an average age of 60.9 years. Majority of patients were post-menopause (74%) and predominantly white (64%), with an income of less than $60,000 (52.4%). Average NET duration was 6.7 weeks. Survey responses displayed in Table 2 indicate statistically significant p values in bold. Patients >50 years old, post-menopause and invasive breast cancer had a stronger belief that NET would be helpful, resulting in greater perception to breast cancer treatment and higher adherence to NET. Patients treated with NET for greater than 4 weeks also felt that NET would make them feel well compared to ≤4 weeks. Interestingly, no significant differences in responses based on education or income level were observed. Conclusion: COVID-19 pandemic presented a unique opportunity to use NET, which is often underutilized outside of clinical trials. In this single institution prospective study, we found that post-menopause patients greater than 50 years old with invasive breast cancer perceived hormonal therapy as beneficial to their health, resulting in increased medication compliance. These findings can be used when counseling patients currently treated with NET as well as those patients may be appropriate for NET in the post-COVID era. Table 1.Demographics of early stage breast cancer patients diagnosed during COVID-19.DCIS (n=13)Invasive Breast Cancer (n=29)Total (n=42)Menopause Status (n, %)Pre-menopause7 (53.8)4 (13.8)11 (26.2)Post-menopause6 (46.2)25 (86.2)31 (73.8)Diagnosis (n, %)Self-Palpated06 (20.7)6 (14.3)Screening13 (100)23 (79.3)36 (85.7)Age (n, %)≤504 (30.8)4 (13.8)8 (19)50+9 (69.2)25 (86.2)34 (80.9)Average Age (range)54.9 (40 – 72)63.6 (32 – 85)60.9 (32 – 85)Race (n, %)White7 (53.8)20 (69%)27 (64.3)Non-White6 (46.2)9 (31%)15 (35.7)Education (n, %)K-121 (7.7)6 (20.7)7 (16.7)College and Graduate12 (92.3)23 (79.3)35 (83.3)Income (n, %)$0 – $60,0005 (38.5)17 (58.6)22 (52.4)$>60,0017 (53.8)12 (41.3)19 (45.2)No response1 (7.7)01 (2.4)NET in Weeks (n, %)≤45 (38.5)7 (24.1)12 (28.6)4+8 (61.5)22 (75.9)30 (71.4) Table 2.Perceptions of breast cancer and hormonal therapy.Perceptions About Hormonal TherapyPerceptions About Breast Cancer TreatmentAdherence To Hormonal TherapyMy health at present depends on me taking hormone treatment (p-value)Hormone treatment is a mystery to me (p-value)My health in the future will depend on me taking hormone treatment (p-value)Taking hormone treatment makes me feel I am taking positive steps to remain well (p-value)How much do you feel that your current hormone therapy can help? (p-value)How much do you feel that you need your current hormone therapy? (p-value)I miss out on a dose (p-value)I stop taking medication for a while (p-value)Age >50 vs. ≤500.04020.56510.00580.08330.04770.87370.04831.0000Post-Menopause vs. Pre-Menopause0.00330.02720.00530.13380.00060.24520.01661.0000Invasive vs. DCIS0.00381.00000.00450.16480.01810.00011.00000.0133Non-White vs. White0.47420.04340.76400.05220.91430.77730.61280.1369Duration of NET: ≤4 vs. >4 weeks0.43190.49971.00000.02840.11390.75430.05220.8833Screening vs. Self-Palpated0.51100.02560.62571.00000.44230.05930.47760.6353K-12 vs. College/Graduate0.43660.65400.16151.00000.41450.67531.00000.8321Income: ≤$60,000 vs. >$60,0000.54590.27860.59900.85690.09530.07000.78980.0581 Citation Format: Julie Huang, Joshua Feinberg, Meredith Akerman, Anthony Pasquarella, Abhinav Rohatgi, Bahram Dabiri, Jordan Baum, Shubhada Dhage, Amber Guth, Nina D'Abreo. Neoadjuvant endocrine therapy (NET) during COVID-19: Single institution survey of patients’ perspectives [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P5-14-20.
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