The Centers for Disease Control currently report cervical, vulvar, vaginal, anal and some head and neck cancers as human papillomavirus (HPV)-associated cancers. Only cervical cancer is listed amongst acquired immunodeficiency syndrome (AIDS) defining illnesses. All of these cancers may represent progression of the immunocompromised state with the inability to eradicate viral infection. This study reports the case of a 27-year old HIV positive female presenting with a persistent right vulvar exophytic lesion. High-risk HPV analysis and immunostaining for P16 were both positive. A biopsy of the lesion revealed invasive squamous cell carcinoma. The patient underwent neoadjuvant radiation and chemotherapy followed by a radical vulvectomy. During treatment, her CD4 T-lymphocyte count decreased to 120 advancing her condition from HIV to AIDS. This case suggests that all HPV-associated cancers should be included as AIDS defining illnesses.
HIV; HPV associated cancer; AIDS
Primary choriocarcinoma of the ovary is rare. Furthermore, this tumor can arise from gestational tissue or pure germ cells of the ovary, with the latter resulting in non-gestational choriocarcinoma. While the clinical characteristics and histology of both tumor types are identical, differentiation of these tumors is necessary for effective treatment. One strategy for the differentiation of these tumors types is to assay for the presence of paternal DNA. Accordingly, in the present case, a patient with primary choriocarcinoma of the ovary with a non-gestational origin was confirmed by DNA analysis. The patient subsequently exhibited an excellent response to chemotherapy, and following surgery, achieved complete remission. A pathological analysis of surgical specimens further confirmed the absence of tumor.
ovarian choriocarcinoma; gestational choriocarcinoma; pattern analysis
Mitochondrion-rich adenocarcinomas represent a rare variant of gastric adenocarcinomas composed predominantly of columnar adenocarcinoma cells with eosinophilic cytoplasm, a strong supranuclear immunoreactivity for antimitochondrial antibody, and a marked neutrophil infiltration associated to tumor cell death. The purpose of this work is to investigate, using correlated light and electron microscopy, mitochondrion-rich gastric adenocarcinomas focusing on the nature of the death in neoplastic cells and in infiltrating neutrophils. Adenocarcinoma cells, single or in small clusters, showed convoluted nuclei, irregularly condensed chromatin, loss of microvilli, and nuclear envelope dilatation. No nuclear fragmentation was observed in these dying cells and the plasma membrane did not show signs of disruption. These ultrastructural findings represent intermediate aspects between apoptosis and necrosis and are compatible with apoptosis-like programmed cell death. By contrast, some infiltrating neutrophils showed ultrastructural signs of classic apoptosis such as chromatin condensation into compact geometric (globular, crescentshaped) figures, tightly packed cytoplasmic granules and intact cell membrane. Our study provides ultrastructural evidence of apoptosislike tumour cell death in mitochondrion-rich gastric carcinomas and confirms that stereotyped outcome either as apoptosis or necrosis of tumor cells cannot always be expected in human neoplasms.
mitochondrion-rich gastric carcinoma; neutrophils; apoptosis-like programmed cell death; electron microscopy
Early stage testicular germ cell tumors are highly curable malignancies, but the need for close radiologic and biomarker surveillance is pivotal. Even in the setting of recurrence, rescue therapy has been successfully implemented. The present report describes a patient that had rapid and aggressive recurrence after radical orchiectomy for a testicular germ cell tumor and presented with bulky disease necessitating reconstruction of the inferior vena cava at the time of salvage retroperitoneal debulking.
testicular germ cell tumor; retroperitoneal tumor; teratoma
Primary colorectal lymphoma is a rare malignancy accounting for 3% of all gastrointestinal lymphomas and 0.1-0.5% of all colorectal malignancies. Among primary colorectal lymphomas, the most common histological subtype of colorectal lymphoma is diffuse large B-cell lymphoma. We report a case of an 84-year old Caucasian female who was admitted to the hospital because of a 2 days history of altered mental status. In the emergency department the patient was found to have acute kidney injury and hypercalcemia. On physical examination a large lower quadrant abdominal mass was palpated. Computed tomography scan of abdomen confirmed the presence of a mass along the cecum and proximal ascending colon. Colonoscopy showed a large ulcerated mass and biopsy was consistent with diffuse large B-cell lymphoma. The patient underwent colectomy but refused to receive chemotherapy.
lymphoma; gastrointestinal lymphoma; hypercalcemia; abdominal mass; diffuse large B-cell lymphoma
Endodermal sinus tumor (or Yolk Sac tumor) of the vagina is a rare malignant germcell tumor which is seen exclusively in children younger than 3 years of age. We report two cases of endodermal sinus tumor of the vagina. In both cases no radiological investigation was done and serum alpha-fetoprotein was elevated. The histopathological examination of both the tumor masses revealed vaginal endodermal sinus tumor. Periodic-acid-Schiff stain with diastase showed diastase resistant hyaline globules. These findings confirmed the diagnosis of endodermal sinus tumor in both cases. Vaginal endodermal sinus tumor is both locally aggressive and capable of metastasis. The serum alpha-fetoprotein level is a useful marker for diagnosis and monitoring the recurrence of vaginal endodermal sinus tumor in infants. Early detection and therapy is important because of its aggressive nature and good response to chemotherapy.
yolk sac tumor; endodermal sinus tumor; vagina; germ cell tumor; alpha-fetoprotein
Integrated 2-deoxy-2-F18-fluoro-D-glucose positron emission tomography combined with computed tomography (FDG-PET/CT) has been used in the field of soft tissue sarcoma. We report an 81-year-old man with dedifferentiated liposarcoma in the left thigh, which was composed of well-differentiated liposarcoma and pleomorphic malignant fibrous histiocytoma. As well as other radiological modalities, FDG-PET was able to demonstrate a biphasic signal pattern composed of well-differentiated liposarcoma and dedifferentiated area, being consistent with the histological grade of malignancy.
FDG-PET/CT; SUV max; dedifferentiated liposarcoma; biphasic pattern
Myxofibrosarcoma (MFS) is a variant of the group of malignant fibrous histiocytomas. It is one of the most aggressive types of soft tissue neoplasms. The clinical presentation is not pathognomonic and the histological aspects are highly heterogenous, frequently delaying the diagnosis or leading to misdiagnosis. Complementary histochemical and immunohistochemical stainings are mandatory to achieve the diagnosis of MFS. A 78-year-old male patient is presented illustrating this diagnostic pitfall. Extensive surgery followed by radiotherapy is the first choice treatment.
malignant fibrous histiocytoma; myxofibrosarcoma
Primitive neuroectodermal tumors (PNET) represent 1% of sarcomas. Head and neck peripheral PNETs have an intermediate prognosis between abdominopelvic disease and extremities. We here report the case of a 40-year old male who presented with primitive neuroectodermal tumor of the thyroid and was treated by multimodal treatment, including surgery, chemotherapy and intermediate dose radiotherapy. The patient is alive and fit with a functional larynx at 27 months. Multimodal treatments yield five-year survival rates of about 60%. Major drug regimens use vincristine, doxorubicin, ifosfamide or cyclophosphamide, dactinomycin and/or etoposide. Complete surgical excision is undertaken whenever possible to improve long-term survival. However, the relative radiosensitivity of tumors of the Ewing family, suggest multimodal treatment including adjuvant conformal radiotherapy in case of positive margins or poor response to chemotherapy rather than resection with 2-3 cm margins, which would imply laryngeal sacrifice for thyroid tumors. The role of expert rare tumor networks is crucial for optimal decision-making and management of such rare tumors on a case by case basis.
primitive neuroectodermal tumor; rare tumor; thyroid; sarcoma; multimodal treatment
A 57-year old man was referred to the Urology Department due to gross hematuria; abdominal ultrasound revealed an unspecific solid tumor of the left bladder wall. Ultrasound, transurethral resection of the bladder mass with subsequent histological analysis, thoracic and abdominal computed tomography-scan and brain magnetic resonance imaging were performed. He was diagnosed with a bladder metastasis of clear cell renal cell carcinoma (RCC) with concomitant bone, pulmonary, and cerebral metastatic disease of a primary RCC of the right kidney. Management: Transurethral resection of the bladder mass, cerebral and bone radiotherapy, removal of the primary tumor, targeted systemic therapy with mTOR followed by tyrosine kinase inhibition.
renal cell cancer; bladder metastasis; transurethral resection; hematuria
Membranous glomerulonephritis can occur as a rare paraneoplastic complication of human cancers. In this case report, we describe a patient who presented acutely with symptoms of the nephrotic syndrome including heavy proteinuria and anasarca. He was subsequently diagnosed with membranous glomerulonephritis, and soon afterwards was found to have stage IIIB non-small cell lung cancer. Following chemoradiation therapy, both the patient’s cancer and membranous glomerulonephritis dramatically improved. However, approximately 14 months following his initial presentation, the patient was found to have a recurrence of his nephrotic-range proteinuria which corresponded temporally with recurrence of his cancer. We present details of the case and a review of the relevant scientific literature.
paraneoplastic syndrome; nephrotic syndrome
Spindle cell carcinoma (SpCC) is a unique variant of squamous cell carcinoma (SCC). SpCC confined to the nasal cavity is extremely rare, with only one case having been previously reported. We present a case report of nasal cavity SpCC and review the literature on this rare entity. A 29-year-old male presented with intermittent epistaxis from the left nasal cavity. On physical examination, the patient had an ulcerated mass in the left nasal vestibule and a biopsy showed a proliferation of spindle and epitheliod cells. The patient underwent wide local excision of the mass via a lateral alotomy approach and reconstruction with a composite conchal bowl skin and cartilage graft. Histologically, the mass had dyplastic squamous epithelium and spindle-shaped cells admixed with epitheliod cells. Immunohistochemistry was only positive for pancytokeratin AE1/AE3 and vimentin. Six months after surgery, the patient continues to have no evidence of disease. On literature review, only one previous case of SpCC confined to the nasal cavity was identified. We present a rare case of nasal cavity SpCC. No definite treatment protocol exists for this unique entity, but we believe that this tumor should primarily be treated with aggressive, wide local excision. Adjuvant radiation and/or chemotherapy have also been used anecdotally.
nasal cavity; carcinoma; spindle-cell.
The intact parathyroid hormone (iPTH) assay is a critical test in the diagnosis and management of PTH-mediated hypercalcemia, including parathyroid carcinoma (PCa). We hypothesized that the survival of patients diagnosed with PCa has improved since adoption of the iPTH assay into clinical practice. We identified all confirmed cases of PCa within the Surveillance, Epidemiology and End Results database from 1973 to 2006. Patients were categorized into two eras based upon introduction of the iPTH assay: 1973 to 1997 (era I) and 1997 to 2006 (era II, when the iPTH assay was in standard use). We estimated overall survival (OS) and disease-specific survival (DSS) using the Kaplan-Meier method, with differences among survival curves assessed via log rank. Multivariate Cox proportional hazards models compared the survival rates between treatment eras while controlling for patient age, sex, race/ethnicity, tumor size, nodal status, extent of disease, and type of surgery. Multivariate models included patients undergoing potentially curative surgery and excluded those with distant metastases. Risks of overall and disease-specific mortality were reported as hazard ratios with 95% confidence intervals. Study criteria were met by 370 patients. Median survival was 15.6 years. Five-year rates of OS and DSS were 78% and 88% for era I and 82% and 96% for era II. On multivariate analysis, age, black race, and unknown extent of disease predicted an increased risk of death from any cause. Treatment era did not predict OS. No factor predicted PCa-specific mortality. In multivariate analysis, neither OS nor DSS have improved in the current era that utilizes iPTH for the detection and management of PCa.
parathyroid carcinoma; parathyroid hormone; survival.
Histiocytoses are a heterogeneous group of disorders characterized by proliferation and accumulation of cells of mononuclear-macrophage system and dendritic cells. Histiocytoses are categorized according to the cell of origin into Langerhans cell histiocytosis (LCH), Non Langerhans cell histiocytoses and indeterminate cell histiocytosis (ICH). ICH is an extraordinary rare neoplastic dendritic cell disorder that has poorly understood histogenesis and pathogenesis. It is characterized by a proliferation of dendritic cells, which mimic Langerhans cells immunophenotypically (positive for CD1a and S-100 protein), but lack Birbeck granules characteristic of Langerhans cells. Twenty-four year-old Egyptian male was presented with reddish brown chest wall nodule. Clinical, histopathological, immunohistochemical and ultrastructure features are typical for ICH. He was in a good state without any evidence of recurrence or metastasis after 24 months follow up. Peculiar histopathological features were detected in the present case. Many unidentified cells with Hematoxylin & Eosin Langerhans like features showed negative staining for S-100, CD1a, Langerin and CD68. In absence of cellular atypia and mitosis, the infiltrating cells showed epidermotropism that was reported once in ICH as well as neural and perineural invasion that were not previously reported. Therefore we prefer using a tentatively designated diagnosis; dendritic cell tumor, not otherwise specified or newly proposed diagnosis (Indeterminate cell histocytosis with naïve cells) for the present case.
indeterminate cell histocytosis; epidermotropism; follow up.
Small cell carcinoma of the gastrointestinal tract is a rare and aggressive neuroendocrine tumor. This study aims to analyze the clinical characteristics and potential prognostic factors for patients with limited stage small cell carcinoma of the gastrointestinal tract. The records of 27 patients with limited stage small cell carcinoma of the gastrointestinal tract, who all received surgery with lymphadenectomy, were retrieved and analyzed retrospectively. The median age of patients was 60 years old (range 38–79). The primary locations of tumor were the esophagus (74.1%) and stomach (14.8%). The rate of preoperative accurate diagnosis (16.7%) was low for small cell carcinoma of the esophagus and stomach. 40.7% of all the patients had regional lymph node metastases. Five patients underwent surgery alone, and the other 22 were treated with surgery + postoperative chemotherapy. All patients had disease progression or recurrence. The overall median survival time was 10 months and the 1-year survival rate was 37.0%. Patients who received postoperative chemotherapy had a median survival time of 12 months, which was superior to the 5-month survival of for those who only had surgery (P<0.0001). TNM stage (P=0.02) and postoperative chemotherapy (P<0.0001) were considered as two prognostic factors in uni-variate analysis. Postoperative chemotherapy was a significant independent prognostic factor in multivariate analysis (P=0.01). The prognosis for patients with limited stage small cell carcinoma of the gastrointestinal tract remains dismal, however, postoperative chemotherapy may have the potential to improve the outcome for these patients.
carcinoma; small cell; gastrointestinal tract; pathology; clinical.
A pilomyxoid astrocytoma is a recently described tumor that occurs predominantly in the hypothalamic-chiasmatic region and is rarely found elsewhere. It has similar features as pilocytic astrocytomas, but has distinct histological characteristics and a poorer prognosis. A pilomyxoid astrocytoma is an aggressive tumor, and increased awareness is necessary with a suspect case. We present the first case of a pilomyxoid astrocytoma of the brainstem described after the newest World Health Organization classification of central nervous system tumors.
pilomyxoid astrocytoma; pediatric; brain tumor
Primary malignant mesothelioma (MM) of spermatic cord is extremely rare. We presented two malignant mesotheliomas involving the spermatic cords; one was primary, one secondary. The secondary one represented the direct involvement by a peritoneal MM. No occupational exposure to asbestos was identified in either patient. Both of them presented with a painless inguinal mass. Microscopically the primary MM was epithelioid type with tumor nests infiltrating adjacent adipose tissue, while the secondary MM grew in mixed type. No tumor necrosis was seen in the primary MM, while extensive necrosis was seen in the secondary one. Rare mitotic figure was seen in the primary MM while the mitosis in the secondary tumor was brisk, and with atypical mitosis. Immunohistochemically the tumor cells were positive for calretinin and CK5/6 and negative for BER-EP4 and BRST3 in both cases. The reported cases of primary MM from spermatic cord in English literature were briefly reviewed.
malignant mesothelioma; spermatic cord.
Sarcomas are cancers that arise in soft tissues or bone and make up a small percentage of malignancies. In an effort to identify potential genetic targets for therapy, this study explores the genomic landscape of a metastatic undifferentiated pleomorphic sarcoma (UPS) with spindle cell morphology. Thick sections (50 µm) of formalin-fixed, paraffin-embedded tissue from a primary, recurrent, and metastatic tumor were collected and processed from a single patient for DNA content-based flow-sorting and analyses. Nuclei of diploid and aneuploid populations were sorted from the malignant tissues and their genomes interrogated with array comparative genomic hybridization. The third sample was highly degraded and did not contain any intact ploidy peaks in our flow assays. A 2.5N aneuploid population was identified in the primary and recurrent sample. We detected a series of shared and unique genomic aberrations in the sorted aneuploid populations. The patterns of aberrations suggest that two similar but independent clonal populations arose during the clinical history of this rare tumor. None of these aberrations were detected in the matching sorted diploid samples. The targeted regions of interest might play a role in UPS and may lead to clinical significance with further investigation.
undifferentiated pleomorphic sarcoma; flow-sort cytometry; array comparative genomic hybridization.
Lipoblastoma is a rare benign soft tissue tumor encountered almost exclusively in infancy and early childhood. The location of tumors varies, but most occur in the extremities, trunk, head and neck. Less frequently, lipoblastomas have been reported in the mediastinum, the retroperitoneum and the inguinal region. Only 7 cases of lipoblastoma in the scrotum have been reported so far in the English literature, with none of the patients older than 8. We report an intrascrotal lipoblastoma in a 10 year-old boy. The differential diagnosis is discussed with reference to the literature.
lipoblastoma; intrascrotal; children; adipose tumors.
Since nasal NK/T-cell lymphoma and NK/T-cell lymphoma nasal type are rare diseases, colonic involvement has seldom been seen. We report a case of a patient with a primary NK/T-cell lymphoma nasal type of the colon. The patient had no history of malignant diseases and was diagnosed after exhaustive study in the context of fever of unknown origin. The first therapeutic approach followed the DA-EPOCH-protocol: etoposide, prednisone, doxor-rubicin, vincristine and cyclophosphamide. The persistence of constitutional symptoms after the first treatment course motivated the switch to a second line following the SMILE-protocol: dexamethasone, metotrexate, ifosfamide, E.coli L-asparaginase, and etoposide. Despite intensive chemotherapy, the patient died 2 months after the diagnose of an extranodal NK/T-cell lymphoma of the colon and 4 months after the first symptomatic appearance of disease.
lymphoma; extranodal NK-T-cell; L-asparaginase; intestinal lymphoma.
In the English literature, only 9 cases of adenocarcinoma of the gallbladder with cutaneous metastasis have been reported so far. One case of multiple cutaneous metastases along with deposits in the breast tissue has been reported. We present a case of incidental metastatic gallbladder carcinoma with no intra-abdominal disease presenting as a series of four isolated cutaneous right chest wall, axillary nodal, breast, and pulmonary metastases following resection and adjuvant chemoradiation for her primary tumor. In spite of the metastatic disease coupled with the aggressive nature of the cancer, this patient reported that her energy level had returned to baseline with a good appetite and a stable weight indicating a good performance status and now is alive at 25 months since diagnosis. Her serially-presented, oligometastatic diseases were well-controlled by concurrent chemoradiotherapy and stereotactic radiation therapy. We report this case study because of its rarity and for the purpose of complementing current literature with an additional example of cutaneous metastasis from adenocarcinoma of the gallbladder.
gall bladder carcinoma; cholecystectomy; cutaneous metastasis; radiotherapy.
A 57-year-old woman presented to her ophthalmologist because of rapid deterioration in vision. Dilated funduscopic examination of the right eye showed an elevated, yellow-orange choroidal mass temporal to the fovea; a complete retinal detachment was present in the left eye. The patient was referred to an oncologist. Computerized tomography of the brain, thorax, abdomen, and pelvis were obtained. They revealed an 11-mm mass in the right parietal lobe, a 30-mm mass in the left temporal lobe, 23-mm mass in the right kidney, and multiple nodules in both lungs. Supported by published experience with intravitreal bevacizumab for choroidal metastasis, the patient was injected into the vitreous through the pars plana of the left eye. The tumor mass did not show signs of regression and the visual acuity was unchanged. The patient suffered from end-state complications tumor metastasis and expired one month after the invitreal injection.
ovarian serous cystoadenocarcinoma; choroidal metastasis; intravitreal bevacizumab.
Primary adenocarcinoma of the urinary bladder is a rare disease. It occurs in 0.5–2% of all bladder cancers and is discussed as the malignant counterpart of nephrogenic adenomas. We report a 46-year-old white female presented with gross hematuria for clinical examination. Histopathology revealed pT2, Pn1, L1, G2 adenocarcinoma of the bladder and carcinoma in situ according to the TNM classification. Computed tomography scan diagnostic was unremarkable. Patients with adenocarcinoma of the urinary bladder should be treated vigorously and without time delay. Only 7 cases of adenocarcinoma in the urinary bladder (mesonephroid) have been described until now. We present a case of clear cell adenocarcinoma of the urinary bladder, mesonephroid type that early diagnosed and till now 3 months after the cystectomy without symptoms and without complications.
urinary bladder; adenocarcinoma; mesonephroid type.
Though rarely reported, neoplasms of the clavicle occur, and their symptoms can be mistaken for more common shoulder conditions. We present the case of a benign clavicular neoplasm, rarely seen in adults, presenting with pain, and eventual pathologic fracture in a 49 year-old. A 49 year-old male firefighter underwent arthroscopic rotator cuff repair for shoulder pain after magnetic resonance imaging revealed supraspinatus tendon tear. The patient's pain persisted after surgery, and was described as routine until he developed severe pain after minor blunt trauma. A local Emergency Room performed the first x-rays, which revealed a pathologic fracture of the distal clavicle through a destructive lesion. The patient was referred to an orthopedic oncologist, who performed incisional biopsy, which initially diagnosed osteomyelitis. The patient was subsequently taken to surgery for debridement. Pathology then yielded the diagnosis of eosinophilic granuloma. The patient was taken back to surgery for formal curettage with open reduction and internal fixation. The patient's pain resolved, the pathologic fracture fully healed, and the patient returned to full time work as a firefighter. Though workup for common shoulder conditions often identifies incidental benign lesions of bone, the converse can be true. Persistent pain despite intervention should raise concern for further investigation. An x-ray alone can reveal a destructive bone lesion as the source of shoulder pain.
bone tumors; oncology; pathologic fracture.
Teratomas are characterized by containing tissue from all three germinal cell layers. Occasionally, somatic type malignancies develop within a mature cystic teratoma. We reported here a rare case of enteric type adenocarcinoma, with associated dysplastic epithelial precursor lesion, arising within a mature cystic teratoma in the retroperitoneum of a 30-year-old woman status post vaginal delivery 11 weeks earlier. The mass is 17.5 cm and cystic. A polypoid mass component measuring 4.7×4.2×2.5 cm was located inside the cystic component. Microscopically, the majority of the specimen was a mature cystic teratoma with all three germinal cell layers. The polypoid mass component was an adenocarcinoma with an adjacent dysplastic epithelial precursor lesion. The adenocarcinoma was diffusely positive for CK20 and CDX-2, and focally positive for CD7, indicating enteric differentiation. A brief review of retroperitoneal mature cystic teratomas with associated somatic type malignancy was performed.
retroperitoneal; mature cystic teratoma; adenocarcinoma.