case studies in cancer research

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Treatment with olaparib in a patient with PTEN-deficient endometrioid endometrial cancer

Oral poly(ADP)-ribose polymerase (PARP) inhibitors have been shown to have great promise in the treatment of cancer in BRCA mutation carriers. This case provides evidence that these agents are efficacious in patients with PTEN deficiency but no BRCA mutations, opening up a new patient cohort for this treatment.

• Martin D. Forster
• Konstantin J. Dedes
• L. Rhoda Molife

Complete molecular response in CML after p210 BCR–ABL1-derived peptide vaccination

A 63-year-old woman with chronic myeloid leukemia who achieved a complete cytogenic response after 6 years of interferon-alpha went on to lose molecular response 2 years after treatment cessation. In this Case Study, Monica Bocchia and colleagues demonstrate the positive outcome in this patient following treatment with a therapeutic vaccine that consists of the p210 BCR–ABL1-derived peptide. The patient has maintained a complete molecular response for over 39 months.

• Monica Bocchia
• Marzia Defina
• Francesco Lauria

A case of variant angina in a patient under chronic treatment with sorafenib

A 63-year-old male patient under chronic treatment with sorafenib for an unresectable multifocal hepatocellular carcinoma (HCC) presented with suspected variant angina. Spontaneous spasm occurred during cardiac catheterization and was revealed during coronary angiogram with the unusual feature of a retrograde transient filling of a contralateral branch. Italo Porto and colleagues contend that the effects of sorafenib treatment were primarily responsible for the major cardiovascular event observed in this case, and suggest that clinicians should be aware of this possible severe complication of sorafenib therapy.

• Italo Porto
• Filippo Crea

Alemtuzumab as a bridge to allogeneic SCT in atypical hemophagocytic lymphohistiocytosis

This Case Study describes a patient with multiple relapses of atypical HLH that became refractory to treatment with numerous immunosuppressive agents. As HLH is driven by CD52 + T cells and histiocytes, alemtuzumab was used as targeted therapy to induce stable remission and enable allogeneic stem-cell transplantation to be successfully performed.

• Matthew P. Strout
• Stuart Seropian
• Nancy Berliner

Renal recovery with lenalidomide in a patient with bortezomib-resistant multiple myeloma

This Case Study describes a patient with multiple myeloma and renal impairment who developed acute renal failure after three cycles of bortezomib-based primary therapy. Second-line lenalidomide and dexamethasone, with lenalidomide dose adjustment according to the patient's renal function, was well tolerated. This therapy elicited a rapid, durable partial tumor response and prompt improvement in the patient's kidney function.

• Heinz Ludwig
• Niklas Zojer

T-cell lymphoproliferative disorder potentially induced by imatinib in a patient with GIST

A 71-year-old male patient was diagnosed with a KIT -positive gastrointestinal stromal tumor (GIST). The patient received adjuvant imatinib but developed several subcutaneous and intra-abdominal tumor lesions after 4 months of treatment. A T-cell lymphoproliferative disorder was suspected. The authors discuss the potential of imatinib to induce reversible clonal T-cell proliferations in patients with GIST who develop new tumor manifestations that are suspicious for relapse.

• Mareike Verbeek
• Justus Duyster

Interaction between capecitabine and brivudin in a patient with breast cancer

This Case Study describes a patient with breast cancer who was treated with capecitabine and experienced a severe adverse event when treated with brivudin for a herpes infection. The authors discuss drug–drug interactions and management of the associated toxic effects.

• José M. Baena-Cañada
• María J. Martínez
• Pedro Muriel-Cueto

Refractory neuroendocrine tumor—response to liposomal doxorubicin and capecitabine

This Case Study describes a patient with metastatic typical carcinoid of the lung who had not responded to initial therapy with a somatostatin analog and chemotherapy (cisplatin and etoposide). She achieved an impressive and long-lasting response to the combination of capecitabine and lyposomal doxorubicin, without reporting any severe adverse effects. The authors discuss the diagnosis, examine differential diagnosis and briefly review the available treatment options in this setting.

• Gianluca Masi
• Lorenzo Fornaro
• Alfredo Falcone

Breast cancer in a BRCA2 mutation carrier with a history of prostate cancer

This case study discusses a patient initially diagnosed with high-risk prostate cancer who underwent androgen deprivation therapy. The patient subsequently presented with ductal carcinoma in situ and was found to be a BRCA2 mutation carrier with a strong family history of breast cancer.

• Seema Panchal
• Orli Shachar
• Louise Bordeleau

Neoadjuvant polychemotherapy in locally advanced Merkel cell carcinoma

This case study discusses two patients with locally advanced Merkel cell carcinoma. The authors describe how neoadjuvant polychemotherapy was used to treat these patients allowing curative-intent surgery plus radiotherapy.

• Thomas Jouary
• Nathalie Lalanne
• Alain Taieb

Eleven years disease-free: role of chemotherapy in metastatic BRCA2 -related breast cancer

Lasting complete remission from widespread bone metastases is rare. The case of a 41-year-old premenopausal woman diagnosed with right-sided infiltrating ductal breast carcinoma and BRCA2 mutation is described. She received high-dose anthracycline-based induction chemotherapy followed by autologous bone marrow transplantation with high-dose alkylator and platin-based conditioning regimens. The authors comment on the reasons for this unusual and sustained complete remission from widely metastatic breast cancer and the patient-specific factors that may have contributed to this outcome.

• Fleur Huang
• Yael B. Kushner
• William D. Foulkes

A stepwise approach to the management of metastatic midgut carcinoid tumor

The authors present a case of a 48-year-old man with a history of diarrhea, flushing and upper abdominal pain who was subsequently diagnosed with metastatic carcinoid tumor. The authors discuss the importance of a stepwise approach in a multi-disciplinary team setting to provide effective patient care.

• Sanjeev Bhattacharyya
• Dorothy M. Gujral
• Martyn E. Caplin

Breast cancer and pregnancy: how safe is trastuzumab?

Breast cancer during pregnancy is increasingly being encountered, and establishing the safety of trastuzumab in this setting is important. The case of a 29-year-old woman diagnosed with node-positive, HER2-positive breast cancer is described. She underwent surgery followed by chemotherapy and radiotherapy and then received trastuzumab. The authors suggest that short-term trastuzumab exposure may be safe and they recommend careful monitoring of the amniotic fluid and cardiac assessment of the mother and fetus.

• Hatem A. Azim Jr
• Fedro A. Peccatori
• Aron Goldhirsch

Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation

MSH2 mutations are associated with the development of colorectal cancer and are a common cause of Lynch syndrome. Jeans et al . describe the case of a 37-year-old woman with a germline MSH2 mutation who developed rectal adenocarcinoma and 7 years later presented with a primitive neuroectodermal tumor. The authors suggest that diagnosis of Lynch syndrome should be considered in cases where individuals with previous malignancies associated with this syndrome present with cerebral tumors.

• Alexander F. Jeans
• Ian Frayling
• Olaf Ansorge

Restoration of chemosensitivity by bortezomib: implications for refractory myeloma

Resistance to chemotherapy remains one of the major challenges in the treatment of patients with multiple myeloma. Chim et al . report the case of a 59-year-old woman with multiple myeloma, who progressed after treatment with conventional chemotherapeutic agents. Addition of bortezomib to her treatment regimen resulted in complete regression of her disease. The authors suggest that bortezomib can restore chemosensitivity of myeloma cells in heavily pretreated, chemorefractory patients with multiple myeloma.

• Chor Sang Chim
• Yu Yan Hwang
• Tony W. Shek

Unintended pregnancy during radiotherapy for cancer

Women with cancer treated with radiotherapy who become pregnant have an increased risk of poor fetal outcome. The case of a 27-year-old woman who became pregnant while receiving radiotherapy for Hodgkin lymphoma and gave birth to a healthy infant is described. The authors suggest that careful evaluation of fetal exposure to radiation should be performed in each individual case to allow pregnant patients to decide on the fate of their pregnancy.

• Saskia N de Wildt
• Nobuko Taguchi
• Gideon Koren

A case of prolonged disease-free survival in a patient with choroidal metastasis from breast cancer

A choroidal metastasis usually presents as blurred vision or decreased visual acuity and is usually an indicator of poor outcome. The authors describe the case of a 57-year-old woman with a history of breast cancer that presented with distorted vision and decreased visual acuity in her left eye. The authors discuss the use of radiation and hormonal therapy to manage this case of choroidal metastasis from breast carcinoma.

• Raymond W Jang
• Mary Doherty
• Ellen Warner

Noninvasive detection of therapeutic cytolytic T cells with 18 F–FHBG PET in a patient with glioma

The authors present the case of a 57-year-old male who was diagnosed with grade IV glioblastoma multiforme and enrolled in a clinical trial of adoptive cellular immunotherapy. The authors used PET imaging technology to image the T cells non-invasively and report the first case using a non-invasive imaging reporter gene/probe technology.

• Shahriar S Yaghoubi
• Michael C Jensen
• Sanjiv S Gambhir

Complete response of stage IV anal mucosal melanoma expressing KIT Val560Asp to the multikinase inhibitor sorafenib

Anal mucosal melanoma is a disorder with limited treatment options and is associated with a poor prognosis. The authors describe the case of a 79-year-old man who was diagnosed with stage IV anal mucosal melanoma expressing the KIT Val560Asp mutation, and was treated with surgery, radiotherapy, and a combination of sorafenib and temozolomide therapy. The authors discuss the potential therapeutic use of sorafenib in anal mucosal melanoma patients with specific mutations such as the KIT Val560Asp mutation.

• Alfonso Quintás-Cardama
• Alexander J Lazar
• Patrick Hwu

Treatment of diffuse large B-cell lymphoma of the liver with yttrium-90 microsphere embolization

The treatment options for patients with chemoresistant diffuse large B-cell lymphoma are limited. Fenske et al . describe the case of a 41-year-old man with chemorefractory lymphoma, who was treated with yttrium-90 microsphere embolization of his hepatic tumors. The patient's lymphoma progressed and he died, but there was no evidence of recurrence in the liver. The authors discuss yttrium-90 microsphere embolization for patients who have chemoresistant lymphoma with involvement of the liver.

• Timothy S Fenske
• Heather Benjamin
• William S Rilling

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