Choriocarcinoma metastatic to the skin: A rare occurrence associated with dismal outcome

Germ cell tumors (GCTs) are a histologically heterogeneous group of tumors that arise from the primitive germ cell of the embryonic gonad. Choriocarcinoma is a variant of GCTs that is prone to hematogenous metastasis to the liver, lung, and brain. Cutaneous metastasis in choriocarcinoma is rarely encountered with only a few cases reported in literature. We report the case of a 28-year-old male presenting with lower back pain that, upon further work-up, was diagnosed with pure choriocarcinoma of the testes. Around 9 months after his initial presentation, he developed a cutaneous back lesion. Microscopic examination confirmed the presence of choriocarcinoma composed of mononuclear cytotrophoblasts which interweave with multinucleated syncytiotrophoblasts. The patient passed away 3 weeks after the onset of cutaneous metastasis.

An unusual case of aggressive malignant spread of epithelioid hemangioendothelioma

Epithelioid hemangioendothelioma (EHE) is a rare vascular neoplasm which typically originates from liver, lung, or bone. Due to the low incidence of disease, the most effective treatment is not easily studied and much of the information known about EHE has been learned through case reports and case series. In this case, we will present an uncommon form of primary soft tissue EHE with local recurrence, bone metastasis, and lymphangitic spread to the lungs leading to respiratory failure. Imaging of the chest was atypical for EHE with intraseptal thickening and hilar lymphadenopathy. Respiratory failure was progressive despite aggressive multimodal treatment. This case highlights an unusually aggressive recurrence and metastasis of primary soft tissue EHE with atypical pulmonary imaging findings.

Undifferentiated pleomorphic sarcoma in oropharyngeal mucosa of patients with multiple basal cell carcinomas

Malignant mesenchymal tumors of oropharyngeal mucosa are rare. Those with fibroblastic and histiocytic differentiation in the skin are called atypical fibroxanthoma (AFX) and in the soft tissue undifferentiated pleomorphic sarcoma (UPS). Here we present a case of an older patient with a history of multiple basal cell carcinomas and recently with a rapidly growing polypoid lesion in the mucosa of posterior oropharyngeal wall with AFX/UPS morphology. The differential diagnosis, histological pitfalls of this poorly characterized mesenchymal lesions, and the challenges associated with treatment are discussed.

Pulmonary echinococcosis: A rare pseudotumour of the lung

Cystic echinococcosis is a widely endemic helminthic disease worldwide but occurs only rarely in Central Europe. Humans are infected as ‘aberrant’ hosts by Echinococcus granulosus and develop cysts in numerous different organs. 20%–30% of the affected individuals develop hydatid disease in the lungs with associated complications including pleuritis, lung abscess and pneumothorax. Radiologically, the pulmonary lesions of cystic echinococcosis occasionally pose difficulties in the differential diagnosis of primary lung carcinoma or metastatic disease and vice versa. Herein we report on a case of pulmonary hydatid disease in a 25-year-old Iraqi male presenting with a cystic lesion of the lung associated with thoracic pain and involuntary weight loss. Despite of its rare occurrence in Central Europe, clinicians, radiologists and pathologists should be aware of this entity and its pulmonary manifestations. During frozen section examination, imprint cytology specimens may facilitate the detection of the pathogens.

Myogenic dedifferentiation is associated with poor outcomes in retroperitoneal dedifferentiated liposarcomas

Sarcomas are a heterogenous group of malignant tumors with origin or mesenchymal differentiation, they comprise 1–2% of all solid tumors. Retroperitoneum is the second most frequent site affected. Prognosis is worse compared to the limbs, with a 5y OS of 36–58%, and 50–60% patients will relapse. Dedifferentiated liposarcomas (ddLPS) are more aggressive, it is known that presence of a de-differentiated component increases the probability of distant recurrence and lowers OS. There is little information about the specific impact of each type of de-differentiation. To determine if the presence of myogenic differentiation markers in DDLPS is an adverse prognostic factor. A retrospective, observational, analytic cohort study was performed. Cases identified from the electronic clinical files from the National Cancer Institute in Mexico City, we included cases from January 1st 2005 to December 31st 2016. We correlated the presence of expression of myogenic markers (Smooth muscle actin, Calponin, H-caldesmon, Desmin and Myogenin) in the dedifferentiated component of DDLPS with overall survival and surgical outcomes. One hundred and forty-three cases were analyzed. Eighty-two were liposarcomas, and 38 had a dedifferentiated component. Of these 38 cases, 21(55.3%) were males and, 17(44.7%) were females. Median age was 54.1(27–79) years, median tumor size was 28 cm (13–56). Most patients had locally advanced disease: 32(84.2%) were in stage IIIB. 2.6% had metastatic disease and 5(13.2%) had stage Ib at diagnosis. Myogenic marker expression was found in 18.4% of cases; these patients had a worse median survival than cases with no myogenic expression: 18 months (95% CI 15.4–20.5) vs 32 months (95% CI 21.8–42.1) p = 0.01, we also found a relation with higher postoperative morbidity in these cases ( p = 0.045). The presence of myogenic differentiation markers might be associated with a worse prognosis, in our series it corelated with worse OS, however it is not a common event. Relation with surgical morbidity is to be analyzed in further studies.

Vaginal oligometastatic disease of colorectal primary: Report of a novel therapeutic approach

Vaginal oligometastatic disease of colorectal primary is a rare malignancy with few reported cases in the literature and no standardized treatment paradigm. We report on the definitive management of an unusual case of an elderly woman with the aforementioned disease. A 78-year-old African-American woman presented with vaginal spotting and was found to have a vaginal lesion. Final pathology was consistent with moderately differentiated adenocarcinoma of colorectal primary. Extensive work up, which included endoscopies, pathologic analyzes, and imaging workup, did not reveal a primary gastrointestinal malignancy. The patient underwent partial vaginectomy and final pathology once again confirmed moderately differentiated adenocarcinoma of colorectal primary (CDX 2 and CEA positive, ER/PR, and CK 7 negative) with negative margins. She went on to receive adjuvant concurrent chemoradiation with 5-FU based chemotherapy. She received 45 Gy in 25 fractions to the whole pelvis followed by an HDR brachytherapy boost to 12 Gy in two fractions. Unfortunately, 10 months after completing radiation, she was found to have adenocarcinoma arising from a hepatic flexure colon polyp on colonoscopy. She required definitive surgical resection and was staged as mpT3N0M1. She received 12 cycles of 5-FU and at 2-year follow-up was found to be disease free with no evidence of locoregional recurrence or distant metastatic disease. Continued long-term follow up is warranted.

Signet ring cell cancer of Ampulla of Vater—first ever case reported in a teenager and a review of literature

Ampullary cancers are rare accounting for 0.2% of all gastrointestinal cancers. Signet ring is a rare variant of adenocarcinoma, characterized by having more than 50% of mucin secreting cells and clinically having a worse prognosis. We present the case of a teenage girl with this tumor, the youngest ever reported in medical literature. An 18 years old girl with no significant past medical history presented to our clinic with symptoms of upper abdominal pain and jaundice. Her upper GI endoscopy showed an ampullary lesion which was biopsied—diagnosing it as adenocarcinoma. She underwent a pancreato-duodenectomy (Whipple’s procedure) with Child’s reconstruction and a feeding jejunostomy. Her final histopathology report was documented as infiltrating adenocarcinoma of Signet Ring variety arising from the Ampulla of Vater. Being such a rare entity, there is a lack of randomized trials advising the optimum treatment for such cases. Till then anecdotal experiences will drive the optimum management of this rare disease.

Aggressive osteoblastoma with a secondary aneurysmal bone cyst treated with denosumab

Osteoblastomas and aneurysmal bone cysts (ABC) are rare benign bone tumors that make up about 1%–2% of primary bone malignancies, typically occurring in young patients with a median age of 20 years, most commonly effecting the axial skeleton. ABCs may develop independently as primary lesions, or secondary to other bony lesions including osteoblastomas, chondroblastomas, and giant cell tumors. Treatment of unresectable or extensive osteoblastomas can be challenging. In 2013, the Food and Drug Administration (FDA) approved denosumab for the treatment of giant cell tumors of the bone due to its efficacy in these morbid bony lesions. Various case reports have shown that osteoblastomas can respond to denosumab. Furthermore, numerous ABC case reports have described the efficacy of denosumab in these situations. We herein describe a unique case of a young patient with an aggressive osteoblastoma and secondary ABCs who was successfully treated with denosumab.

Hypofractionated radiation in secretory breast cancer: A case report

Secretory carcinoma is a rare and indolent breast cancer with a lack of established treatment paradigms. We describe a case of a woman who underwent breast conservative therapy in the modern era. A 48 year old woman with a screen-detected left breast cancer was found to have early-stage secretory carcinoma after definitive breast conservation surgery. Further management with adjuvant radiation was recommended. After definitive breast conservative surgery, final pathology was notable for secretory breast carcinoma due to the immunohistologic characteristics of the tumor, ETV6-NTRK3 gene fusion, and histologic findings. After multi-disciplinary discussion, it was recommended that the patient proceed with adjuvant radiation. She was treated using a modestly hypofractionated regimen of 4256 cGy in 16 fractions. She tolerated the treatment well, developing only grade 1 radiation dermatitis. At 1 year follow-up she was clinically and radiographically free of disease. With a shift in management toward breast conservative therapy, defining the role of adjuvant radiation for secretory carcinomas in the modern era is of increasing importance. Modestly hypofractionated radiation is well-tolerated. Oncologic outcomes will be assessed with continued long-term follow-up.

The first case report of primary thyroid teratocarcinosarcoma: An analog to sinonasal teratocarcinosarcoma

Teratocarcinosarcoma is a rare and aggressive tumor usually affecting the sinonasal tract. It arises primarily from the nasal cavity, paranasal sinuses with some reported cases arising from the nasopharynx and oral cavity and commonly referred to as Sinonasal Teratocarcinosarcoma (SNTC). We present the first case of teratocarcinosarcoma as a primary thyroid cancer in a 17-year-old male patient who presented with a rapidly growing anterior neck mass with no symptoms. Physical examination revealed circa 4 cm × 5 cm slightly right sided, non-tender, firm anterior neck swelling. A thyroid ultrasound revealed an enlarged thyroid gland with multiple thyroid nodes. Magnetic Resonance Imaging (MRI) of the head and neck showed no sinonasal tract tumor. Thyroidectomy and surgical resection of the tumor was performed. Histological examination revealed teratocarcinosarcoma of the thyroid gland, an analog to SNTC with no primary sinonasal tissue involvement. This implies that, teratocarcinosarcoma can occur in primary tissues other than sinonasal origin contrary to conventional knowledge.