Tracheal Chondrosarcoma-A Novel Presentation of Lynch Syndrome.

This case report describes a man in his 60s with no cancer history who presented with 2 weeks of dysphagia, dysphonia, and a left neck mass.

A Rare Case of Thyroglossal Duct Cyst Cancer and Literature Review.

Thyroglossal duct cyst is the most common thyroid developmental abnormality with a prevalence of 7%, but thyroglossal duct cyst cancer is rare. The incidence of thyroglossal duct cyst cancer is about 1%. The diagnosis is limited by low yield on fine-needle aspiration biopsy (FNAB), and most cases are diagnosed after surgery. There is a paucity of data on the utility of thyroglobulin washout for diagnosis of thyroglossal duct cyst cancer, and it has not been mentioned in previous case reports/series. Papillary thyroid cancer is the most common pathology. Preoperative planning is important as the decision about total thyroidectomy with the Sistrunk procedure (excision of the thyroglossal duct cyst, middle part of hyoid bone, and surrounding tissue around the thyroglossal tract) depends on the presence of clinical or radiological thyroid abnormality. Thyroglossal duct cyst cancer has an excellent prognosis. However, owing to a lack of standard of care for this type of thyroid cancer, there is institutional variability in management. We present a case of thyroglossal duct cyst cancer in a man presenting with painless midline neck swelling. Imaging was suspicious for thyroglossal duct cyst cancer. FNAB was benign. The patient underwent the Sistrunk procedure and pathology was positive for papillary thyroid cancer.

Desmoplastic Small Round-cell Tumor: Retrospective Review of Institutional Data and Literature Review.

BACKGROUND: Desmoplastic small round-cell tumor (DSCRT) in adults is an extremely rare (age-adjusted incidence 0.3 per million) and aggressive sarcoma with limited data for optimal management. PATIENTS AND METHODS: Retrospective analysis of patients with DSCRT diagnosis (2010-2020) was performed following Institutional Review Board approval. The follow-up period was from pathological diagnosis to the last patient contact. Endpoints were type of response and duration of response. RESULTS: In the current analysis, first-line treatment in all cases was vincristine, anthracycline, and cyclophosphamide alternating with ifosfamide and etoposide (VAC-IE) with 100% response for a mean duration of 9.8 (range=5-12) months. Patients received 1-4 subsequent lines of therapy. All patients received temozolomide with irinotecan (50% partial response, duration 8-9 months). Two patients that underwent consolidative cytoreductive surgery with hyperthermic intraperitoneal chemotherapy had a longer survival (30.6 vs. 11.2 months). Patients suffered 100% mortality with a median survival was 17.8 (range=11.2-30.6) months. CONCLUSION: While aggressive multimodality treatment is always warranted for DSCRT, the options are limited by the multicentric presentation, short-lived initial response and lack of established subsequent therapy portending a poor prognosis. Consolidative cytoreductive surgery following first-line therapy may improve survival.

AL type cardiac amyloidosis: a devastating fatal disease.

INTRODUCTION: Cardiac amyloidosis is a rare entity with a grave prognosis. Due to the low index of suspicion secondary to non-specific symptoms, it is often diagnosed at an advanced stage with multi-organ involvement. METHODS: We report a case of systemic AL amyloidosis with predominant cardiac and renal involvement associated with multiple myeloma. CASE SUMMARY: A 60-year-old male presented with progressive anasarca, orthopnea and weight gain over 8 months. On clinical examination, 3+ pitting edema was found in bilateral extremities and scrotum. Serum N-type proBNP and troponin T were elevated, and EKG showed diffuse low voltage QRS, right axis deviation, and 1st degree AV block. Echocardiography revealed granular myocardium, biventricular hypertrophy, bi-atrial dilation and apical sparing pattern on global longitudinal strain which was suggestive of cardiac amyloidosis. Light chain assessment showed elevated kappa and lambda chains with kappa to lambda ratio of 16.2. Endomyocardial biopsy revealed AL type cardiac amyloidosis, and bone marrow biopsy confirmed the diagnosis of multiple myeloma. He received six cycles of bortezomib, cyclophosphamide, and dexamethasone but continued to deteriorate. He experienced an episode of cardiac arrest following which he had a return of spontaneous circulation but due to poor prognosis, the family opted for pursuing comfort measures only. CONCLUSIONS: Cardiac involvement in AL type amyloidosis imparts significant morbidity and mortality. The management of cardiac amyloidosis entails a multidisciplinary approach with an emphasis on cardiology and oncology. Despite the novel diagnostic modalities and treatment regimens, the outcome for AL-type cardiac amyloidosis remains poor.

First Reported Case of Localized Extra-pulmonary Small Cell Carcinoma (EPSC) of the Esophagus Treated With Triple Therapy.

BACKGROUND/AIM: Early stage extra-pulmonary small cell carcinoma (EPSC) of the esophagus is very rare and is usually treated with chemo-radiation or surgical resection. CASE REPORT: A case of early stage small cell carcinoma of the esophagus that was treated with all three current modalities of chemotherapy, radiation, and surgery. To our best knowledge this is the first case treated with triple therapy. The patient is a 64-year-old male with increasing gastroesophageal reflux disease (GERD) symptoms. EGD biopsy of the mass showed small cell carcinoma. Metastatic work up was negative. Patient was treated with 6 cycles of a platinum-based agents and Etoposide along with radiation. Patient underwent distal esophagectomy. Patient is alive without evidence of recurrent disease at 20 months follow up. CONCLUSION: Currently there are no definite treatment recommendations, but we present a possible future option with good outcomes in patients who can tolerate triple therapy.

A Rare Case of Locally Advanced Primary Small Cell Neuroendocrine Carcinoma of the Adrenal Gland.

BACKGROUND/AIM: Primary small cell neuroendocrine carcinoma (SCNEC) of the adrenal gland is extremely rare with limited reports in the literature. There remain no definitive treatment guidelines, largely due to the rarity of the malignancy. CASE REPORT: We present the case of a 62-year-old Caucasian male who presented with low back pain and was found to have a large retroperitoneal mass arising from the left adrenal gland, measuring 18.3 × 12.2 centimeters (cm). Biopsy was consistent with small cell carcinoma/high grade neuroendocrine carcinoma. Staging workup including CT chest and bone scan was negative. The patient was treated with chemotherapy, radiation therapy, and surgery; complete pathological response of the left adrenal tumor was achieved. Surveillance imaging every three months continued to show no evidence of recurrent disease. CONCLUSION: Primary SCNEC of the adrenal gland is rare and lacks standard treatment guidelines. Our case represents a possible treatment approach that may provide better clinical outcomes, however, further investigations are necessary to help define ideal treatment guidelines.

Isolated testicular recurrence of B cell acute lymphoblastic leukaemia in an adult: rare case.

An 80-year-old man who was previously diagnosed with Philadelphia+ B cell-acute lymphoblastic leukaemia (B-ALL) in remission post-allogeneic matched unrelated donor peripheral blood stem cell transplant. Five years later, he was found to have unilateral testicular relapse of Philadelphia+ B-ALL proven by pathology after radical orchiectomy. Bone marrow aspirate and biopsy did not show evidence of leukaemia. Patient was treated with adjuvant radiation therapy and started on dasatinib 50 mg daily. Given his age and absence of disseminated acutelymphoblastic leukaemia (ALL), no adjuvant chemotherapy was utilised. He is monitored with monthly PCR studies. At 1-year follow-up, no findings suggestive of recurrence of ALL have been identified and the patient is maintained on the dasatinib. Although isolated testicular recurrence is common among paediatric population, it is a rare event among adults as it is considered an immunological sanctuary for cancer cells.