Advanced Lung Adenocarcinoma Patient with ERBB2 Amplification Identified by Comprehensive Genomic Profiling Benefits from TrastuzumabTao, Chi-Wei;Chen, Mei-Yin;Tseng, Ching-Min;Lapke, Nina;Chen, Shu-Jen;Tan, Kien Thiam
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/9072173pmid: 32190395
For non-small-cell lung cancer (NSCLC) patients without established actionable alterations in genes such as <i>EGFR</i> or <i>ALK</i>, options for targeted therapy remain limited in clinical practice. About 5% of lung adenocarcinoma patients have tumors with <i>ERBB2</i> genetic alterations, with even fewer patients harboring <i>ERBB2</i> amplification. Currently, clinical trials mainly use IHC, FISH, or mutation testing to identify potential responders to ERBB2-targeting agents. The use of next-generation sequencing (NGS) to detect <i>ERBB2</i> alterations, including copy number variants, is rare. In this study, we present an EGFR- and ALK-negative advanced NSCLC case for which we conducted comprehensive tumor genomic profiling to identify potentially actionable alterations. The tumor harbored an <i>ERBB2</i> amplification, and trastuzumab-based therapy resulted in an excellent response, with a necrotic regression of the patient’s lung lesion. Although he developed brain metastasis four months after trastuzumab initiation, he survived for an additional period of eight months without local recurrence or other systemic metastasis. This case report shows that the use of comprehensive genetic testing enables the identification of rare actionable alterations in NSCLC patients without other options for targeted treatment.
Dual EGFR and ABL Tyrosine Kinase Inhibitor Treatment in a Patient with Concomitant EGFR-Mutated Lung Adenocarcinoma and BCR-ABL1-Positive CMLWatanabe, Kousuke;Kage, Hidenori;Nagoshi, Saki;Toyama, Kazuhiro;Ohno, Yoshiyuki;Shinozaki-Ushiku, Aya;Nakazaki, Kumi;Suzuki, Hiroshi;Kurokawa, Mineo;Nagase, Takahide
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/4201727pmid: 32257476
Tyrosine kinase inhibitor (TKI) combination is expected to increase in the era of precision medicine. TKI combination may be required to treat double primary cancers, each having a targetable gene, or to treat a single malignancy with multiple targetable genes. Here, we demonstrate the first report of dual EGFR and ABL TKI treatment in a patient with concomitant EGFR-mutated lung adenocarcinoma and BCR-ABL1-positive chronic myeloid leukemia (CML). A 60-year-old man with an 8-year history of CML was diagnosed as advanced EGFR-mutated lung adenocarcinoma. Complete molecular response of CML had been achieved by imatinib, and ABL-TKI had been switched to nilotinib four years previously due to muscle cramps. We discontinued nilotinib and started afatinib. Although partial response of lung adenocarcinoma was achieved, cytogenetic relapse of CML was observed following nilotinib discontinuation. We applied the previously described framework of cytochrome P450 3A4-mediated oral drug-drug interactions and selected gefitinib and nilotinib to treat both malignancies. We effectively and safely administered this combination for seven months. The present report is the first to demonstrate the safety and efficacy of dual EGFR and ABL TKI treatment in a patient with concomitant EGFR-mutated lung adenocarcinoma and CML.
The Challenges of Managing Ovarian Cancer in the Developing WorldMulisya, Olivier;Sikakulya, Franck K.;Mastaki, Mbusa;Gertrude, Tambavira;Jeff, Mathe
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/8379628pmid: 32231827
Ovarian cancer has high morbidity and mortality rates among cancers of the reproductive system. The disease typically presents at late stage when the 5-year relative survival rate is only 29%. Similarly, access to prevention, early diagnosis, treatment, and palliative care for cancer-related disease is insufficient. The availability of cancer treatments in Africa is especially poor. <i>Case</i>. A 17-year-old lady, nulliparous, was admitted with complaint of abdominal swelling and loss of weight and a huge left ovarian cyst revealed by ultrasound scan. Laparotomy was done, and a mass which resembled a hemorrhagic solid tumor was found. Grossly, the left ovarian mass measured <span class="inline_break"><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="32.221pt" style="vertical-align:-0.3499298pt" id="M1" height="8.69875pt" version="1.1" viewBox="-0.0498162 -8.34882 32.221 8.69875"><g transform="matrix(.013,0,0,-0.013,0,0)"><path id="g113-50" d="M384 0V27C293 34 287 42 287 114V635C232 613 172 594 109 583V559L157 557C201 555 205 550 205 499V114C205 42 199 34 109 27V0H384Z"/></g><g transform="matrix(.013,0,0,-0.013,6.24,0)"><path id="g113-54" d="M153 550H386L412 615L406 623H120L82 318C104 327 142 338 184 338C294 338 347 275 347 187C347 112 305 39 221 39C160 39 119 71 97 89C88 97 80 96 71 90C59 80 50 67 49 57C48 45 52 36 66 23C80 9 123 -12 169 -12C221 -11 288 15 342 59C403 109 431 165 431 225C431 308 366 395 238 395C212 395 165 379 127 364L153 550Z"/></g><g transform="matrix(.013,0,0,-0.013,12.48,0)"><path id="g113-47" d="M113 -12C146 -12 170 11 170 46C170 78 146 103 114 103S58 78 58 46C58 11 82 -12 113 -12Z"/></g><g transform="matrix(.013,0,0,-0.013,15.444,0)"><path id="g113-49" d="M241 635C89 635 35 457 35 312C35 153 89 -12 240 -12C390 -12 443 166 443 312C443 466 390 635 241 635ZM238 602C329 602 354 454 354 312C354 172 330 22 240 22C152 22 124 173 124 313S148 602 238 602Z"/></g><g transform="matrix(.013,0,0,-0.013,24.59,0)"><path id="g117-42" d="M528 54L331 254L528 455L492 493L294 291L96 493L60 455L257 254L60 54L96 16L294 217L492 16L528 54Z"/></g></svg><span class="ibiop"/><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="32.221pt" style="vertical-align:-0.3499298pt" height="8.69875pt" version="1.1" viewBox="35.076183799999995 -8.34882 32.221 8.69875"><g transform="matrix(.013,0,0,-0.013,35.126,0)"><path id="g113-51" d="M412 140C382 77 369 73 315 73H129L270 222C362 320 402 379 402 466C402 571 322 635 234 635C177 635 130 609 99 576L42 495L64 475C90 514 133 568 201 568C274 568 318 519 318 435C318 349 255 267 193 193C144 135 87 78 32 23V0H405C417 45 427 89 440 131L412 140Z"/></g><g transform="matrix(.013,0,0,-0.013,41.366,0)"><use xlink:href="#g113-49"/></g><g transform="matrix(.013,0,0,-0.013,47.606,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,50.57,0)"><use xlink:href="#g113-49"/></g><g transform="matrix(.013,0,0,-0.013,59.716,0)"><use xlink:href="#g117-42"/></g></svg><span class="ibiop"/><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="15.821pt" style="vertical-align:-0.3499298pt" height="8.69875pt" version="1.1" viewBox="70.2021838 -8.34882 15.821 8.69875"><g transform="matrix(.013,0,0,-0.013,70.252,0)"><path id="g113-57" d="M249 635C141 635 70 555 70 471C70 401 114 353 179 316C143 294 106 267 90 252C68 231 45 202 45 157C45 50 130 -12 237 -12C322 -12 435 52 435 169C435 256 372 304 303 343C349 374 375 398 383 407C401 429 411 458 411 487C411 569 344 635 249 635ZM238 603C285 603 337 567 337 482C337 422 310 385 276 358C205 393 145 426 145 500C145 552 179 603 238 603ZM248 20C183 20 125 70 125 163C125 218 158 268 206 300C284 261 355 217 355 143C355 66 308 20 248 20Z"/></g><g transform="matrix(.013,0,0,-0.013,76.492,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,79.456,0)"><use xlink:href="#g113-49"/></g></svg></span> cm and a left salpingectomy was performed. Two months later, she came back with lower limb swelling progressively increased in a week with vulvar edema, with a palpable mass. She was discharged on request by her relatives for traditional medicine. One year later, she passed on in an unrevealed picture. The management of ovarian cancer is too challenging in low-resource countries, from hospital settings to the communities with poor cancer awareness. It is therefore imperative that healthcare resources, policies, and planning focus to be coordinated in a rational way.
Complete Remission of Multiple Brain Metastases in a Patient with EGFR-Mutated Non-Small-Cell Lung Cancer Treated with First-Line Osimertinib without RadiotherapyAmeku, Koken;Higa, Mariko
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/9076168pmid: 32257480
Osimertinib has demonstrated efficacy against stable or asymptomatic central nervous system (CNS) metastases of epidermal growth factor receptor (<i>EGFR</i>) mutation-positive non-small-cell lung cancer (NSCLC) in phase 2 and 3 clinical trials that allowed prior CNS radiotherapy. However, the efficacy of osimertinib only or the optimal treatment combination or sequence of radiotherapy has not been investigated. A 74-year-old woman diagnosed with T4N1M1c Stage IVB lung adenocarcinoma with <i>EGFR</i> mutation presented with a left upper lobe mass and multiple bilateral lung metastases. A total of more than 20 asymptomatic multiple brain metastases with a maximum diameter of 12 mm were diagnosed simultaneously. Osimertinib was administered as first-line treatment. Whole brain radiotherapy was deferred because she had no neurological symptoms. After 5 weeks, the multiple brain metastases disappeared completely, together with the response in the lung lesions. This case demonstrated that first-line treatment with osimertinib could even achieve complete remission of multiple brain metastases comprising as many as twenty lesions of <i>EGFR</i>-mutated NSCLC without radiation therapy. Radiation therapy for brain metastases can be deferred or even withheld. A new treatment strategy for <i>EGFR</i> mutated NSCLC with CNS metastases should be investigated using osimertinib, especially regarding optimal combination or sequence of radiotherapy.
Response to Dabrafenib and Trametinib of a Patient with Metaplastic Breast Carcinoma Harboring a BRAF V600E MutationSeo, Takuji;Noguchi, Emi;Yoshida, Masayuki;Mori, Taisuke;Tanioka, Maki;Sudo, Kazuki;Shimomura, Akihiko;Yonemori, Kan;Fujiwara, Yasuhiro;Tamura, Kenji
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/2518383pmid: 32206360
<i>Background</i>. Metaplastic breast carcinomas are rare and carry poor prognoses. They are also more aggressive than other breast cancers and are known for their resistance to chemotherapy. Prolonged treatment with dabrafenib and trametinib is a therapy for malignant melanoma that improves the progression-free survival and overall survival. Such molecular-targeted therapies are also being developed for cancers with BRAF mutation, a driver of malignant melanoma. <i>Case Presentation</i>. A 57-year-old woman with metaplastic breast cancer and chemotherapy-refractory massive pleural effusion. After contained anthracycline regimen failure, her breast cancer progressed to an advanced stage. We ordered next-generation sequencing- (NGS-) based tumor molecular profiling from core needle biopsy of the breast. The NGS report indicated the presence of a BRAF V600E mutation. After initiation of dabrafenib and trametinib, her symptom and the pleural effusion were decreased. The first assessment of CT scans showed a decreased pleural effusion and shrunken subcutaneous lesions. Approximately 2 weeks later, a new lesion appeared. She died from 12 weeks after initiation of dabrafenib and trametinib treatment. <i>Conclusion</i>. To the best of our knowledge, this is the first report of BRAF mutation breast cancer treated with dabrafenib and trametinib and it heralds the possibility of targeted therapy for rare breast cancers.
Metastasis of Ewing Sarcoma to the Pancreas: Case Report and Literature ReviewPolimera, Hyma;Moku, Prashanth;Abusharar, Shady Piedra;Vasekar, Monali;Chintanaboina, Jayakrishna
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/7075048pmid: 32257479
Ewing sarcoma (ES) is a highly aggressive malignant bone cancer. ES is part of the Ewing sarcoma family of tumors (ESFT), which express characteristic t(11;22) translocation as well as higher levels of CD99. Given that metastasis and tumor burden are significant prognostic factors in patient’s response to treatment, prompt diagnosis is needed to effectively treat ESFT patients. However, the challenges in classifying and characterizing ESFT complicate effective management and treatment of ES. In this report, we present a rare case of ES metastasis to the pancreas. Upon review of the literature, we found 39 cases of ESFT involving the pancreas, but only 3 were metastatic to the pancreas while the remaining cases of ESFT primarily originated from the pancreas. Given the rarity of such metastasis, the positive outcome in our patient’s case may explain the importance of prompt diagnosis in order to initiate appropriate treatment.
Metastatic Small-Cell Lung Cancer Presenting as Primary Adrenal InsufficiencyEsperti, Shawn;Stoelting, Austen;Scibelli, Nicolina;Moccia, David;Patel, Dveet;Haughton, Michael;Mangano, Andrew
2020 Case Reports in Oncological Medicine
doi: 10.1155/2020/7018619pmid: 32257478
A 40-year-old male smoker with HIV was admitted for cough, hypotension, and abdominal pain for 5 days. Chest radiography showed a right lower lobe consolidation. CT of the chest, abdomen, and pelvis revealed paratracheal adenopathy, a <span class="inline_break"><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="25.981pt" style="vertical-align:-0.3499298pt" id="M1" height="8.69875pt" version="1.1" viewBox="-0.0498162 -8.34882 25.981 8.69875"><g transform="matrix(.013,0,0,-0.013,0,0)"><path id="g113-54" d="M153 550H386L412 615L406 623H120L82 318C104 327 142 338 184 338C294 338 347 275 347 187C347 112 305 39 221 39C160 39 119 71 97 89C88 97 80 96 71 90C59 80 50 67 49 57C48 45 52 36 66 23C80 9 123 -12 169 -12C221 -11 288 15 342 59C403 109 431 165 431 225C431 308 366 395 238 395C212 395 165 379 127 364L153 550Z"/></g><g transform="matrix(.013,0,0,-0.013,6.24,0)"><path id="g113-47" d="M113 -12C146 -12 170 11 170 46C170 78 146 103 114 103S58 78 58 46C58 11 82 -12 113 -12Z"/></g><g transform="matrix(.013,0,0,-0.013,9.204,0)"><path id="g113-57" d="M249 635C141 635 70 555 70 471C70 401 114 353 179 316C143 294 106 267 90 252C68 231 45 202 45 157C45 50 130 -12 237 -12C322 -12 435 52 435 169C435 256 372 304 303 343C349 374 375 398 383 407C401 429 411 458 411 487C411 569 344 635 249 635ZM238 603C285 603 337 567 337 482C337 422 310 385 276 358C205 393 145 426 145 500C145 552 179 603 238 603ZM248 20C183 20 125 70 125 163C125 218 158 268 206 300C284 261 355 217 355 143C355 66 308 20 248 20Z"/></g><g transform="matrix(.013,0,0,-0.013,18.35,0)"><path id="g117-42" d="M528 54L331 254L528 455L492 493L294 291L96 493L60 455L257 254L60 54L96 16L294 217L492 16L528 54Z"/></g></svg><span class="ibiop"/><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="34.07pt" style="vertical-align:-0.3499298pt" height="8.69875pt" version="1.1" viewBox="28.8361838 -8.34882 34.07 8.69875"><g transform="matrix(.013,0,0,-0.013,28.886,0)"><path id="g113-53" d="M456 178V225H360V632H320C217 496 115 347 20 206V178H280V106C280 40 276 34 189 27V0H445V27C364 34 360 39 360 106V178H456ZM280 225H82C149 335 214 431 278 520H280V225Z"/></g><g transform="matrix(.013,0,0,-0.013,35.126,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,38.09,0)"><use xlink:href="#g113-54"/></g><g transform="matrix(.013,0,0,-0.013,46.506,0)"><path id="g190-100" d="M390 111C344 68 312 56 269 56C212 56 118 102 118 241C118 346 175 401 241 401C277 401 312 388 342 360C350 352 355 349 361 349C372 349 394 371 394 392C394 403 391 411 378 422C362 436 329 449 288 449H287C250 449 190 432 138 392C71 341 37 274 37 197C37 90 112 -12 238 -12C297 -12 363 32 407 90L390 111Z"/></g><g transform="matrix(.013,0,0,-0.013,52.005,0)"><path id="g190-110" d="M797 0V26C739 32 732 36 732 103V296C732 394 682 449 605 449C576 449 550 437 529 423C504 407 475 389 446 366C425 418 382 449 334 449C303 449 279 437 253 421C222 403 201 385 180 371V452C135 432 85 419 41 411V388C99 379 102 374 102 310V103C102 38 93 32 27 26V0H238V26C189 32 180 38 180 103V338C210 363 250 390 289 390C351 390 377 348 377 275V103C377 37 368 32 306 26V0H520V26C465 32 456 38 456 101V296C456 314 455 326 453 338C491 369 529 390 565 390C628 390 653 345 653 274V107C653 36 642 32 583 26V0H797Z"/></g></svg></span> mass invading the right bronchus intermedius, and dense bilateral adrenal masses, measuring <span class="inline_break"><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="25.981pt" style="vertical-align:-0.3499298pt" id="M2" height="8.69875pt" version="1.1" viewBox="-0.0498162 -8.34882 25.981 8.69875"><g transform="matrix(.013,0,0,-0.013,0,0)"><use xlink:href="#g113-54"/></g><g transform="matrix(.013,0,0,-0.013,6.24,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,9.204,0)"><use xlink:href="#g113-53"/></g><g transform="matrix(.013,0,0,-0.013,18.35,0)"><use xlink:href="#g117-42"/></g></svg><span class="ibiop"/><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="34.07pt" style="vertical-align:-0.3499298pt" height="8.69875pt" version="1.1" viewBox="28.8361838 -8.34882 34.07 8.69875"><g transform="matrix(.013,0,0,-0.013,28.886,0)"><use xlink:href="#g113-53"/></g><g transform="matrix(.013,0,0,-0.013,35.127,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,38.091,0)"><path id="g113-49" d="M241 635C89 635 35 457 35 312C35 153 89 -12 240 -12C390 -12 443 166 443 312C443 466 390 635 241 635ZM238 602C329 602 354 454 354 312C354 172 330 22 240 22C152 22 124 173 124 313S148 602 238 602Z"/></g><g transform="matrix(.013,0,0,-0.013,46.506,0)"><use xlink:href="#g190-100"/></g><g transform="matrix(.013,0,0,-0.013,52.005,0)"><use xlink:href="#g190-110"/></g></svg></span> on the right and <span class="inline_break"><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="25.981pt" style="vertical-align:-0.3499298pt" id="M3" height="8.69875pt" version="1.1" viewBox="-0.0498162 -8.34882 25.981 8.69875"><g transform="matrix(.013,0,0,-0.013,0,0)"><use xlink:href="#g113-53"/></g><g transform="matrix(.013,0,0,-0.013,6.24,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,9.204,0)"><use xlink:href="#g113-57"/></g><g transform="matrix(.013,0,0,-0.013,18.35,0)"><use xlink:href="#g117-42"/></g></svg><span class="ibiop"/><svg xmlns:xlink="http://www.w3.org/1999/xlink" xmlns="http://www.w3.org/2000/svg" width="34.07pt" style="vertical-align:-0.3499298pt" height="8.69875pt" version="1.1" viewBox="28.8361838 -8.34882 34.07 8.69875"><g transform="matrix(.013,0,0,-0.013,28.886,0)"><path id="g113-51" d="M412 140C382 77 369 73 315 73H129L270 222C362 320 402 379 402 466C402 571 322 635 234 635C177 635 130 609 99 576L42 495L64 475C90 514 133 568 201 568C274 568 318 519 318 435C318 349 255 267 193 193C144 135 87 78 32 23V0H405C417 45 427 89 440 131L412 140Z"/></g><g transform="matrix(.013,0,0,-0.013,35.126,0)"><use xlink:href="#g113-47"/></g><g transform="matrix(.013,0,0,-0.013,38.09,0)"><use xlink:href="#g113-49"/></g><g transform="matrix(.013,0,0,-0.013,46.506,0)"><use xlink:href="#g190-100"/></g><g transform="matrix(.013,0,0,-0.013,52.004,0)"><use xlink:href="#g190-110"/></g></svg></span> on the left. Laboratory studies showed white blood cell count of 18.5 K/mm<sup>3</sup>, sodium of 131 mmol/L, creatinine of 1.6 mg/dL, and CD4 count of 567 cells/mm<sup>3</sup>. The random morning cortisol level was 7.0 <i>μ</i>g/dL, the ACTH stimulation test yielded inappropriate response, and a random serum ACTH was elevated at 83.4 pg/mL. MRI brain revealed no pituitary adenoma confirming primary adrenal insufficiency. The adrenal CT washout study was consistent with solid mass content, concerning for metastasis. Bronchoscopy with endobronchial mass and paratracheal lymph node biopsy confirmed small-cell lung cancer (SCLC). Intravenous steroids, 100 mg hydrocortisone every 8 hours, improved his hypotension and abdominal pain. PET scan revealed metabolically active right paratracheal mass, right hilar mass, and bilateral adrenal masses. Treatment included palliative chemotherapy consisting of carboplatin/etoposide/atezolizumab and chest radiation. We present this novel case to demonstrate SCLC’s ability to cause primary adrenal insufficiency, as well as evaluate clinical response to chemotherapeutics.