Case Study

Testicular germ-cell cancer is the most common solid malignancy affecting males in puberty and adulthood. Ponti et al. report the case of a 45-year-old man who was initially misdiagnosed with stage I seminoma, developed brain metastases and finally died. Pathology review showed large B-cell lymphoma in the primary tumor. The authors underline the need for accurate histology review in testicular tumors with unusual clinical features.

The prognosis for patients with advanced melanoma and CNS metastases is poor. Hodi et al. report the case of a 63-year-old female who was diagnosed with metastatic melanoma from an unknown primary tumor. The authors discuss the use of the human monoclonal antibody against CTLA-4, ipilimumab, in patients with metastatic melanoma.

The tumor suppressor syndrome neurofibromatosis type 2 (NF2) is transmitted in an autosomal dominant fashion. Plotkin et al. report the case of a 48-year-old man who was diagnosed with progressive NF2-related vestibular schwannomas and received erlotinib therapy, which resulted in improved audiologic and radiographic responses. The authors discuss the potential effectiveness of targeted therapies for progressive vestibular schwannoma in NF2 patients.

Patients treated with irradiation for Hodgkin's lymphoma are at increased risk of breast cancer. Alm El-Din et al. report the case of a 57-year-old woman who was diagnosed with breast cancer 15 years after receiving mantle irradiation for Hodgkin's lymphoma and was managed with lumpectomy and partial breast irradiation. The authors suggest partial breast irradiation as a feasible approach for women who develop breast cancer after Hodgkin's lymphoma and decline mastectomy.

Proteus syndrome is a rare hamartoma syndrome that is characterized by the presence of germlinePTEN mutations and causes benign and malignant tumors. Marsh et al. report the case of a 16-month boy who was diagnosed with Proteus syndrome, and was managed with oral rapamycin. On the basis of this patient's promising outcome, the authors discuss the rationale for rapamycin therapy for patients with disorders within the PTENhamartoma tumor syndrome spectrum.

Allogeneic hematopoietic stem-cell transplantation is the only curative treatment for the majority of patients with high-risk or advanced hematologic malignancies. Schöttker et al. describe the case of a male patient with acute lymphoblastic leukemia who received cord-blood, third-party CD34⁺stem-cell, and T-cell transplantation after experiencing primary graft failure. The authors discuss the therapeutic potential of this combined non-HLA restricted transplantation for patients with hematologic disorders.

Methotrexate-associated lymphoproliferative disorders are rare conditions mostly observed in patients receiving immunosuppression therapy. Tran and coauthors report the first documented case of methotrexate-associated mantle-cell lymphoma in a 75-year-old patient with myasthenia gravis. After cessation of methotrexate, the patient was treated with anthracycline-based combination chemoimmunotherapy and maintenance rituximab therapy and achieved complete remission. The authors discuss the management options for patients with methotrexate-associated mantle-cell lymphoma.

Cardiac angiosarcomas are characterized by a difficult clinical diagnosis and poor prognosis. Pigott et al. report the case of a 37-year-old man diagnosed with primary cardiac angiosarcoma with systemic metastases who was managed with neoadjuvant and adjuvant chemotherapy with doxorubicin, and complete resection of the tumor. The authors discuss the combination of treatments undertaken, and suggest a multidisciplinary approach to improve outcome in patients with cardiac angiosarcoma.

Placental-site trophoblastic tumors (PSTTs) are often resistant to chemotherapy and have a high incidence of lung metastasis. Cole et al. report the case of a 52-year-old woman who was diagnosed with metastatic chemoresistant PSTT. The patient was managed with abdominal hysterectomy, salpingo-oophrectomy, radiotherapy, chemotherapy, and thoracotomy with wedge resection. The authors discuss the treatment options for patients with PSTTs, especially for those with persistent metastatic disease.

Urachal adenocarcinomas are rare primary adenocarcinomas of the bladder for which there is no current chemotherapy regimen. Mohile and co-authors report the case of a 67-year-old woman who was diagnosed with metastatic urachal adenocarcinoma and achieved complete remission of the disease after irinotecan, 5-fluorouracil and leucovorin therapy. The authors discuss the current management options for patients with urachal adenocarcinomas and emphasize the need to evaluate the role of newly discovered agents in the treatment of this disease.

Tubercular lymphadenitis of the cervical lymph nodes can be easily confused with node metastases. Chaturvedi et al. present the case of a 66-year-old man who was diagnosed with tongue carcinoma. PET–CT imaging suggested extensive neck-node metastases but frozen sections revealed tuberculosis of the neck nodes. The patient underwent surgery and received multidrug antitubercular therapy. The need for cautious interpretation of PET–CT reports, especially in tuberculosis-endemic areas, is discussed.

Patients with primary plasma-cell leukemia (PCL) are usually treated with regimens used for multiple myeloma because no official guidelines exist for the treatment of PCL. Ballanti et al. discuss the case of a 68-year-old man with primary PCL who developed sustained ventricular tachycardia that was thought to be caused by thalidomide. The authors emphasize the need for complete cardiac evaluation and clinical monitoring of patients undergoing thalidomide treatment.

Poorly differentiated thyroid cancers (PDTCs) are usually aggressive tumors with high rates of recurrence and distant metastases that are often resistant to radioactive iodine therapy. Tuttle and colleagues present the case of a 55-year-old man who was diagnosed with metastatic PDTC and was managed with radioactive iodine therapy. The authors discuss the current management options for patients with PDTCs that are nonresponsive to RAI therapy and highlight the need for the discovery of new systemic treatments for these patients.

For patients with non-small-cell lung cancer (NSCLC) and brain metastasis, effective treatment strategies are required because systemic chemotherapy is usually ineffective. Pan and colleagues present the case of a 73-year-old man who was diagnosed with NSCLC with brain metastasis, who carried anEGFR mutation and was managed with erlotinib and whole-brain irradiation. The authors discuss the treatment options for patients with metastatic NSCLC and propose erlotinib as an appropriate therapy for patients with a high probability of harboring classic EGFRmutations.

Germline mutations inPTEN result in the uncommon Cowden Syndrome. Heterozygous mutations of SDH B, C and D are associated with the hereditary pheochromocytoma–paraganglioma syndrome. Zbuk et al. present the first-reported case of a woman with both PTEN and SDHCmutations, which resulted in multiple neoplasias. The authors highlight the need for predictive genetic tests and close clinical surveillance of patients with suspected Cowden or pheochromocytoma–paraganglioma syndromes.

Small-cell carcinomas of the prostate or high-grade prostate cancer with neuroendocrine differentiation are often lethal phenotypes with no direct pathognomonic symptoms. This article presents the case of a 52-year-old man diagnosed with high-grade prostate cancer and small-cell/neuroendocrine features who was managed with transurethral resection, androgen blockade, total pelvic exenteration, nephrostomy placement, and chemotherapy. The author highlights the treatment and management course in such patients and the need for early diagnosis of this aggressive type of tumor.

Isolated extramedullary relapse of acute myeloid leukemia after allogeneic transplantation is a rare phenomenon, which is not well understood. Owonikoko et al. describe the case of a patient with primary refractory acute myeloid leukemia who received chemotherapy treatment on protocol, salvage therapy, matched-unrelated-donor stem-cell transplants and donor-lymphocyte infusion. The patient received radiation therapy and gemtuzumab to treat numerous extramedullary sites of disease and remains disease free with no further cytotoxic therapy since gemtuzumab administration. The authors highlight the safety and efficacy of gemtuzumab in the treatment of patients with isolated extramedullary relapse.

Children with Down syndrome who develop transient myeloproliferative disorder or acute megakaryoblastic leukemia harbor somatic mutations in theGATA1 gene, a phenomenon specific to this syndrome. Heald and colleagues report the first case of a stillborn fetus with Down syndrome-associated acute megakaryoblastic leukemia/transient myeloproliferative disorder and a GATA1mutation. The authors discuss the management of fetuses with suspected or confirmed diagnosis of Down syndrome and highlight the need for genetic screening and counseling based on maternal age.

Cervical cancer is one of the most frequent malignancies diagnosed during pregnancy. Karam et al. report the case of a 28-year-old woman who was diagnosed with poorly-differentiated stage IB2 squamous-cell cervical carcinoma at 23 weeks of gestation. The patient received neoadjuvant cisplatin, underwent radical cesarean hysterectomy and after delivery commenced pelvic radiation therapy with cisplatin chemosensitization. The authors discuss the treatment and management options for women diagnosed with cervical carcinoma during pregnancy and review the reported experience with the use of chemotherapy in such cases.

Localized rectal adenocarcinoma responds well to 5-fluorouracil/radiation-based therapy. Willett et al. present the case of a 55-year-old woman who was diagnosed with extensive and locally invasive carcinoma of the rectum and received bevacizumab in combination with chemoradiotherapy. Upon completion of neoadjuvant therapy, the patient underwent abdominoperineal resection with posterior vaginectomy, hysterectomy and bilateral salpingo-oophorectomy. The authors discuss the complete response seen in this patient and insights into the application and clinical management of using anti-VEGF therapy with chemoradiation.