Case Study

  • Case Study |

    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
    • , Shahneen Sandhu
    • , Sophia Frentzas
    • , Rebecca Kristeleit
    • , Alan Ashworth
    • , Christopher J. Poole
    • , Britta Weigelt
    • , Stan B. Kaye
    •  & L. Rhoda Molife
  • Case Study |

    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
    • , Lara Aprile
    • , Micaela Ippoliti
    • , Rosaria Crupi
    • , Michela Rondoni
    • , Alessandro Gozzetti
    •  & Francesco Lauria
  • Case Study |

    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
    • , Andrea Leo
    • , Luca Miele
    • , Maurizio Pompili
    • , Raffaele Landolfi
    •  & Filippo Crea
  • Case Study |

    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
  • Case Study |

    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
  • Case Study |

    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
    • , Falko Fend
    • , Thomas Licht
    • , Christian Meyer zum Büschenfelde
    • , Jens Stollfuss
    • , Christian Peschel
    •  & Justus Duyster
  • Case Study |

    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
    • , Obdulia García-Olmedo
    • , Reyes Jiménez-Bárcenas
    •  & Pedro Muriel-Cueto
  • Case Study |

    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
    • , Samanta Cupini
    • , Fotios Loupakis
    • , Enrico Vasile
    • , Giacomo G. Baldi
    • , Irene Stasi
    • , Lisa Salvatore
    •  & Alfredo Falcone
  • Case Study |

    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
    • , Frances O'Malley
    • , Pavel Crystal
    • , Jaime Escallon
    • , Juanita Crook
    • , Anita Bane
    •  & Louise Bordeleau
  • Case Study |

    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
    • , François Siberchicot
    • , Anne-Sophie Ricard
    • , Julie Versapuech
    • , Sébastien Lepreux
    • , Michèle Delaunay
    •  & Alain Taieb
  • Case Study |

    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
    • , Adrian Langleben
    •  & William D. Foulkes
  • Case Study |

    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
    • , Christos Toumpanakis
    • , Gilles Dreyfus
    • , Brian R. Davidson
    • , Joseph Davar
    •  & Martyn E. Caplin
  • Case Study |

    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
    • , Sarah J. Liptrott
    • , Chiara Catania
    •  & Aron Goldhirsch
  • Case Study |

    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
    • , Bharat Jasani
    • , Lucy Side
    • , Claire Blesing
    •  & Olaf Ansorge
  • Case Study |

    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
    • , Clara Pang
    •  & Tony W. Shek
  • Case Study |

    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
  • Case Study |

    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
    • , J Jill Hopkins
    •  & Ellen Warner
  • Case Study |

    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
    • , Nagichettiar Satyamurthy
    • , Shradha Budhiraja
    • , David Paik
    • , Johannes Czernin
    •  & Sanjiv S Gambhir
  • Case Study |

    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
    • , Scott E Woodman
    • , Kevin Kim
    • , Merrick Ross
    •  & Patrick Hwu
  • Case Study |

    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
    • , Steven H Kroft
    • , Eric J Hohenwalter
    •  & William S Rilling
  • 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.

    • Giovanni Ponti
    • , Maurilio Ponzoni
    • , Andrés JM Ferreri
    • , Marco Foppoli
    • , Luca Mazzucchelli
    •  & Emanuele Zucca
  • Case Study |

    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.

    • F Stephen Hodi
    • , Darryl A Oble
    • , Jan Drappatz
    • , Elsa F Velazquez
    • , Nikhil Ramaiya
    • , Naren Ramakrishna
    • , Arthur L Day
    • , Andrea Kruse
    • , Suzanne Mac Rae
    • , Axel Hoos
    •  & Martin Mihm
  • Case Study |

    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.

    • Scott R Plotkin
    • , Marybeth A Singh
    • , Caroline C O'Donnell
    • , Gordon J Harris
    • , Andrea I McClatchey
    •  & Chris Halpin
  • Case Study |

    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.

    • Mohamed A Alm El-Din
    • , Jennifer K Feng
    •  & Alphonse G Taghian
  • Case Study |

    Proteus syndrome is a rare hamartoma syndrome that is characterized by the presence of germline PTEN 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 PTEN hamartoma tumor syndrome spectrum.

    • Deborah J Marsh
    • , Toby N Trahair
    • , Janet L Martin
    • , Wey Yeeng Chee
    • , Jan Walker
    • , Edwin P Kirk
    • , Robert C Baxter
    •  & Glenn M Marshall
  • Case Study |

    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.

    • Björn Schöttker
    • , Tobias Feuchtinger
    • , Michael Schumm
    • , Erdwine Klinker
    • , Rupert Handgretinger
    • , Hermann Einsele
    •  & Gernot Stuhler
  • Case Study |

    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.

    • Huy Tran
    • , Catherine Cheung
    • , Devinder Gill
    • , Ujjwal Dua
    • , Jamie Nourse
    • , Richard Boyle
    •  & Maher K Gandhi
  • Case Study |

    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.

    • Courtney Pigott
    • , Michael Welker
    • , Pam Khosla
    •  & Robert SD Higgins
  • Case Study |

    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.

    • Michael E Cole
    • , Russell Broaddus
    • , Premal Thaker
    • , Charles Landen
    •  & Ralph S Freedman
  • Case Study |

    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.

    • Supriya G Mohile
    • , Lori Schleicher
    •  & Daniel P Petrylak
  • Case Study |

    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.

    • Stelvio Ballanti
    • , Elena Mastrodicasa
    • , Niccolò Bolli
    • , Flavia Lotti
    • , Ilaria Capolsini
    • , Laura Berchicci
    • , Carla Merigiola
    • , Giampiero Giordano
    •  & Antonio Tabilio
  • Case Study |

    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.

    • Pankaj Chaturvedi
    • , Prathamesh S Pai
    • , Devendra A Chaukar
    • , Mandar S Deshpande
    • , Venkatesh Rangarajan
    • , Nilendu Purandare
    •  & Anil K D'cruz
  • Case Study |

    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.

    • R Michael Tuttle
    • , Ravinder K Grewal
    •  & Steve M Larson
  • Case Study |

    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 an EGFR 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 EGFR mutations.

    • Minggui Pan
    • , Monica Santamaria
    •  & David B Wollman
  • Case Study |

    Germline mutations in PTEN 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 SDHC mutations, 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.

    • Kevin M Zbuk
    • , Attila Patocs
    • , Amy Shealy
    • , Heather Sylvester
    • , Susan Miesfeldt
    •  & Charis Eng
  • Case Study |

    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.

    • Susan F Slovin
  • Case Study |

    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.

    • Taofeek Owonikoko
    • , Mounzer Agha
    • , Ronald Balassanian
    • , Ryan Smith
    •  & Anastasios Raptis
  • Case Study |

    Children with Down syndrome who develop transient myeloproliferative disorder or acute megakaryoblastic leukemia harbor somatic mutations in the GATA1 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 GATA1 mutation. 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.

    • Brandie Heald
    • , Joanne M Hilden
    • , Kevin Zbuk
    • , Alice Norton
    • , Paresh Vyas
    • , Karl S Theil
    •  & Charis Eng
  • Case Study |

    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.

    • Amer Karam
    • , Nancy Feldman
    •  & Christine H Holschneider
  • Case Study |

    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.

    • Christopher G Willett
    • , Dan G Duda
    • , Emmanuelle di Tomaso
    • , Yves Boucher
    • , Brian G Czito
    • , Zeljko Vujaskovic
    • , Gordana Vlahovic
    • , Johanna Bendell
    • , Kenneth S Cohen
    • , Herbert I Hurwitz
    • , Rex Bentley
    • , Gregory Y Lauwers
    • , Martin Poleski
    • , Terence Z Wong
    • , Erik Paulson
    • , Kirk A Ludwig
    •  & Rakesh K Jain
  • Case Study |

    Papillary type 2 renal cell carcinoma (RCC) is part of the hereditary leiomyomatosis and renal cell carcinoma syndrome that is caused by a mutation in the fumarate hydratase (FH) gene. In this article, the authors present a tragic case of a young man who was diagnosed with papillary type 2 RCC and was managed with radical nephrectomy, immunotherapy, chemotherapy and surgical debulking. The article discusses the treatment and management of patients with renal manifestations of FH heterozygosity that are the most serious aspects of the syndrome, and underlines the need for genetic evaluation of patients and members of their families.

    • Munir Al Refae
    • , Nora Wong
    • , François Patenaude
    • , Louis R Bégin
    •  & William D Foulkes
  • Case Study |

    Carney's triad is a syndrome consisting of three rare neoplasms: gastric leiomyosarcoma, extra-adrenal paraganglioma and pulmonary chondroma. The article by Kächele et al. describes the case of a young woman who presented with a gastrointestinal stromal tumor and metastatic epicardial paraganglioma. The patient underwent an extended hemigastrectomy and cardiac surgery and remained free of recurrent disease during the follow-up period. This is the first report of an epicardial paraganglioma within a Carney's triad and the authors discuss the diagnostic workup and management of patients with Carney's syndrome.

    • Volker Kächele
    • , Sandra Pauls
    • , Felix M Mottaghy
    • , Norbert Blumstein
    • , Hans J Brambs
    • , Thomas FE Barth
    • , Andreas Hannekum
    • , Martin Höher
    • , Martin Jeltsch
    • , Sven N Reske
    • , Peter Möller
    • , Guido Adler
    •  & Thomas Seufferlein
  • Case Study |

    Individuals with recessive mutations in the mismatch repair gene MSH6 are at an increased risk of developing primary and secondary malignancies. In this article, Scott et al. describe the case of a young girl with constitutional biallelic MSH6 mutations who had developed colonic carcinomas, medulloblastoma and acute myeloid leukemia. The patient underwent allogeneic bone marrow transplantation and panproctocolectomy and was treated with chemotherapy. This report broadens the tumor spectrum associated with biallelic MSH6 mutations and discusses the differential diagnosis and implications for treatment in individuals with such mutations.

    • Richard H Scott
    • , Sahar Mansour
    • , Kathryn Pritchard-Jones
    • , Devinder Kumar
    • , Fergus MacSweeney
    •  & Nazneen Rahman
  • Case Study |

    This article describes the case of a 78-year-old man who was presented with a rapidly growing mass in the left axilla but no other symptoms. Excisional biopsy of the mass revealed a primary adenocarcinoma with apocrine features. The patient underwent dissection of the left axillary lymph node and received radiation therapy. Fifteen months later, a biopsy revealed metastatic apocrine carcinoma. The authors discuss the differential diagnosis and treatment options for patients with apocrine carcinoma, a rare subtype of sweat-gland carcinoma.

    • Shailja Roy
    • , Nelofar Q Shafi
    •  & Michal G Rose