Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome or Gorlin syndrome, is a rare multisystem disorder with an estimated prevalence of around 1 in 100,000 on average. Vismodegib, an oral smoothened (SMO) inhibitor that blocks the activation of the sonic hedgehog (SHH) pathway, is used in patients with NBCCS. We present an interesting case of a 38-year-old female with Gorlin-Goltz syndrome and her response to vismodegib therapy over two and a half years. She had an excellent initial response to vismodegib for a year during which all her skin basal cell carcinoma (BCC) lesions decreased in size considerably; her dentigerous cysts remained the same size. Though she continued therapy despite several side effects, this was only followed by tumor regrowth and the emergence of new BCC lesions in a more aggressive manner. We discussed the proposed mechanism of resistance to vismodegib (based on our case and literature review) along with its clinical implications. Our case highlights that vismodegib resistance might lead to progression of Gorlin syndrome to a more aggressive version, and points out the need to determine the optimal regimen (combining vismodegib with other agents) and optimal therapy duration (continuous treatment vs. discontinuation after best response) for treatment of NBCCS.
Clear cell type renal carcinoma accounts for about 80% of all renal cell carcinomas. We present a 39-year-old male with clear cell renal carcinoma of the right kidney, stage I: T1 b (5 cm) N0 M0, who developed cutaneous metastases in the right submandibular region 28 months after nephrectomy. Our case is unique as i) the patient with stage I cancer (at the time of nephrectomy) presented with an isolated cutaneous nodule in a location distant from the primary site; ii) cutaneous nodule developed while being treated with pazopanib for metastatic lesions in the lung and adrenal; and iii) nivolumab and ipilimumab combination therapy decreased the vascularity of the nodule though it did not halt the nodule growth. Physicians should be knowledgeable about this rare clinical entity and its varied presentation. Further studies are necessary to determine optimal treatment, as the current therapeutic agents for metastatic renal carcinoma might not be adequate for cutaneous metastasis.
Thrombosis with Thrombocytopenia Syndrome (TTS) or Vaccine-induced Immune Thrombotic Thrombocytopenia (VITT) had been reported in patients receiving the Ad26.COV2.S vaccination (Johnson & Johnson [J&J]/Janssen) vaccine. They frequently presented with cerebral venous sinus thrombosis (CVST), but venous or arterial thrombosis at other locations can be present. The majority of those affected are younger adult females. Therefore, after a brief pause from April 13–23, 2021, the Centers for Disease Control and Prevention (CDC) and the U.S. Food and Drug Administration (FDA) recommended caution in using this vaccine in females under 50 years. Based on the reported 28 cases of TTS after this vaccination (data till April 21, 2021) by CDC, 22 were females (78%), and 6 were male. None of those males had CVST but had thrombosis at other locations. We report the first case of a young male with TTS and CVST following Ad26.COV2.S vaccine presented with severe headache and diagnosed with acute right transverse and sigmoid cerebral venous sinus thrombosis, multiple right-sided pulmonary emboli, and right hepatic vein thrombosis. He was treated with parenteral anticoagulation with argatroban and intravenous immune globulin with the improvement of his symptoms. A heparin-induced thrombocytopenia with thrombosis (HITT) like syndrome caused by the genesis of a platelet-activating autoantibody against platelet factor 4 (PF4) triggered by adenoviral vector-based COVID-19 vaccinations is understood to be the underlying pathophysiology. TTS with CVST should be considered when patients present with headaches, stroke-like neurological symptoms, thrombocytopenia, and symptom onset 6–15 days after Ad26.COV2.S vaccination.
e19508 Background: Multiple myeloma (MM) diagnostic costs, including bone marrow (BM) studies: (flow (F), aspirate (manual differential) (A) and biopsy (Bx)) are increasing. BM studies already have underlying discordance issues that may lead to repetitive studies. Thus, elucidation of characteristics associated with concordant/discordant BM studies in identifying plasma cell percentage (PC%) of ≥10, a key MM diagnostic criteria, arises. Methods: A retrospective chart review (total of152 patients diagnosed with MM and managed at UTMB through 1/2016-1/2018) was completed. 56 subjects met inclusion, PC ≥10% in any BM study, and exclusion criteria. Subjects were grouped into BMA vs BMBx and BMF vs BMBx groups and subdivided into MM subtypes for exploratory review. Two-sample Independent t-test (CI 95%) and descriptive statistics were used for comparison of variables. Two-sided p value ≤ 0.05 was considered significant. Results: Sensitivities in identifying BM PC≥10% were as follows: BMA (66.1%), BMF (39.3%) and BMBx (96.4%) (Gold standard: BMA+BMF+BMBx (100%)). Concordance rates were at 60.7% between BMA and BMBx and 35.7% between BMF and BMBx. Larger BMBx spicule size (mean(cm) = 1.3(1.1-1.48) x 0.27(0.22- 0.31) x 0.21(0.19-0.22), p = 0.037) and higher B2 microglobulin (B2m) levels (mean(mcg/mL) = 11.92 (8.04- 15.79), p = 0.003) were associated with BMA and BMBx concordance in typical/secretory MM types but not in oligo-secretory and non-secretory subtypes of MM, nor is associated with BMF and BMB concordance or discordance. Meanwhile, # of BM acquisition attempts, tool types (hand trochar vs drill) for BM acquisition, LDH and CRP levels had no significant associations with concordance or discordance in any BM study groups. Conclusions: BMF is the least sensitive in identifying PC≥10% likely due to PC damage during flow cytometry, and it may be prudent to just perform BMA with BMBx to save on costs. The associations between larger spicule sizes and higher B2m levels to BMA and BMBx concordance are likely due to an increase in the chance of identifying monoclonal PCs in bigger samples, and greater monoclonal PC tumor burden, respectively, and may have predictability benefits.
Nivolumab, an antiprogrammed death-1 checkpoint inhibitor, has been approved for use in unresectable/metastatic renal cell carcinoma (RCC). Nivolumab-induced pneumonitis, a rare, but often severe and potentially life-threatening immune-related adverse event, has been reported, typically, early during the treatment. Due to its low incidence, more studies are needed to better elucidate this condition and its possible effects on cancer progression. We now present a 57-year-old Hispanic male patient with metastatic RCC-clear cell type who, after his 34th cycle of nivolumab (16 months after being on nivolumab), developed a late-onset, immune-related adverse event (IRAE) including a grade 3 pneumonitis, which resolved completely, clinically, and on serial lung imaging with steroids and drug discontinuation. His cancer remained stable with no progression for 18 months despite discontinuation of nivolumab which showed tumor progression resistance. This case report is aimed at providing further information regarding the rare phenomena of a late-onset IRAE, in particular, a grade 3 nivolumab-induced pneumonitis which also responded rapidly to treatment, as well as at discussing this immunotherapy’s durable tumor suppressive effect and a possible associated factor to this phenomenon.
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