Byerssinclair4060

Small-cell breast carcinoma (SCBC) is a very rare type of aggressive breast cancer constituting less than 1% of all breast cancers. The WHO classification categorizes this tumor as small-cell neuroendocrine carcinoma, and its prognosis is usually worse as compared to invasive breast cancers. We report a 64-year-old Caucasian female who presented with a large fungating left breast mass. Biopsy of the mass revealed small-cell carcinoma of the breast, negative for all 3 receptors (estrogen, progesterone, and Her2/neu). Imaging studies were negative for distant metastasis. She was subsequently treated after multidisciplinary discussion utilizing neoadjuvant chemotherapy with platinum agents and etoposide, modified radical mastectomy with axillary lymph node dissection, and adjuvant radiation therapy. Since she has triple-negative small-cell breast cancer, she will be followed with active surveillance without hormonal therapy. With less than 100 cases reported and in the absence of evidence-based standard treatment guidelines, we have reviewed various case series reported in the literature. We further discuss various chemotherapy regimens used previously, adverse prognostic factors of breast neuroendocrine tumors, common receptor status, and genetic mutations found in SCBC.Leptomeningeal carcinomatosis (LC) is an uncommon complication of cancer in which the disease metastasizes to the meninges; it is estimated that this occurs in 5% of cancer patients and is most often terminal. LC has a median survival time of approximately 15.7 weeks [Leal et al., Curr Cancer Ther Rev. 2011;7(4)319-27]. Furthermore, metastasis from the prostate is exceptionally rare with only a few cases described in medical literature. Until recently, leptomeningeal disruption was very rare and cerebral involvement was irrelevant [Bubendorf et al., Hum Pathol. 2000;31(5)578-83; Schaller et al., Br J Cancer. 2000;77(12)2386-9]. With improved imaging, diagnostic modalities, and treatment with therapies that do not cross the blood-brain barrier, the incidence of LC has been on the rise [Batool and Kasi, StatPearls, https//www.ncbi.nlm.nih.gov/books/NBK499862/]. Diagnosis previously relied on biopsy, supported by lumbar puncture findings. We submit a case demonstrating progressive and consistent evidence of LC found on imaging, justifying its acceptance as a diagnostic modality.A 79-year-old woman was treated at our department for a neoplasm of the left breast. It was discovered following the spontaneous appearance of a localized ecchymotic lesion of the breast. The only clinical sign was this purpura, with no notion of trauma. The lesion was homogeneous, oval, and measuring 4 × 5 cm, and it was stable for 2 months. The patient had no history of thrombocytopenia and no known allergy. The physical examination was not very helpful and did not find any palpable breast lesion besides a 1-cm left axillary lymphadenopathy. Breast screening revealed a solid, poorly delineated structure of 11 mm. Biopsies were taken and revealed a NOS grade II invasive carcinoma, triple negative, with a Ki-67 proliferation index of 15%. The axillary cytology was positive. Faced with this atypical presentation, a skin biopsy was performed on the bruise in order to exclude skin invasion. Histology showed the presence of carcinomatous lymphatic dermal emboli which could correspond to a mammary origin as well aour case, was present with progressive evolution of the skin lesion over several weeks. The skin lesion of our patient could also make us suspect a primary breast angiosarcoma. This possibility was quickly eliminated in the absence of vascular tumor proliferation on the various biopsies. Any acute purpura is a serious disease to be diagnosed urgently, and a skin biopsy is indicated.Juvenile nasopharyngeal angiofibroma (JNA) is a relatively uncommon, benign neoplasm of the nasopharynx that can be very difficult to diagnose early due to inconspicuous and seemingly harmless presenting symptoms. Early diagnosis and treatment of JNA are essential for a good prognosis. JNA typically responds well to radiation therapy (RT), but when it does not, the most appropriate next course of action has not been readily defined due to the limited occurrence and experience with this neoplasm. Herein, we describe a JNA patient, who continued to progress after surgery and 36 Gy of adjuvant radiation, but after an additional 14.4 Gy, he has remained in remission for over 2 years. An 11-year-old boy who presented with JNA underwent treatment with embolization and surgical resection. Unfortunately, the tumor progressed within 2 months of surgical intervention and he required RT for adequate local control. While undergoing RT, he again demonstrated signs of progression; so his radiation regimen was increased from 3,600 cGy in 20 fractions to 5,040 cGy in 28 fractions. Since completing RT, the tumor has continued to decrease in size, and the patient is stable and has been without signs of disease progression for over 24 months now. find more Thus, escalating the radiation regimen to 5,040 cGy may improve local control in rapidly progressive JNA.Drug-induced interstitial lung disease (DI-ILD) is a rare, yet life-threatening complication associated with tyrosine-kinase inhibitor (TKI) therapy. Third-generation epidermal growth factor receptor-TKI, osimertinib use can be associated with a benign radiological finding called transient asymptomatic pulmonary opacities that can be confused with an infectious pulmonary process resulting in overtreatment with antibiotics or premature treatment withdrawal or severe DI-ILD. In this case, our patient with newly diagnosed metastatic non-small cell lung cancer on treatment with osimertinib developed very early onset severe DI-ILD (grade-IV) with a unique pattern of pulmonary involvement and was treated with high-dose corticosteroids with a response. She was later successfully rechallenged with osimertinib and responded well to the treatment. Our case highlights the importance of being cognizant of the possibility that DI-ILD can rarely occur within a week of treatment initiation with osimertinib and safe reintroduction of the drug is possible in select patients following complete resolution of pulmonary radiographic findings and clinical symptoms even with high-grade adverse events.Primary CNS extranodal marginal zone B-cell lymphoma (MZBL) is a rare low-grade non-Hodgkin lymphoma characterized predominantly by small B cells, plasma cells, monocytoid cells, and scattered large immunoblasts. As a slow-growing tumor that remains localized, primary CNS MZBL carries an excellent clinical prognosis. Here, we report two cases of primary CNS MZBL successfully treated using external beam radiation therapy along with a literature review.Traditionally, tissue availability from rebiopsy is a prerequisite for adequate sequencing of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) in therapy for advanced-stage lung cancer. Tissue biopsy truly is the gold standard for genetic analyses, but in some cases, such as with inadequate localization of the lesion or a patient's inadequate performance status, comorbidities, or unwillingness to undergo an invasive procedure, liquid biopsy-based ctDNA analysis can be a noninvasive alternative approach. However, in some cases the gold standard might not shine that much. It is known that tumor heterogeneity or an inadequate amount of tissue might significantly interfere with the results of testing. In this paper, we present cases of patients with a negative tissue biopsy but a positive liquid biopsy which identified coexisting T790M mutation. These results enabled adequate sequencing and treatment with third-line EGFR-TKIs. Such possibilities stress the need to individualize testing for driver mutations in cases where it is clinically highly indicated.SMARCA4-deficient thoracic sarcoma is a newly described entity of thoracic sarcomas with a poor prognosis, defined by poorly differentiated epithelioid to rhabdoid histomorphology and SMARCA4 gene inactivation. We present a case of a SMARCA4-deficient thoracic sarcoma in a 41-year-old male with a smoking history who presented with an upper anterior mediastinal mass, after seeking medical evaluation for increasing thoracic pain, odynophagia, and dizziness. The biopsy confirmed a large cell tumor with an epithelioid to rhabdoid histomorphology, positive for EMA, CD99, vimentin, TLE1, INI1, PAS-positive cytoplasmic granules, and PD-L1 (100% of tumor cells). High TMB and HRD scores were displayed in the tumor. The histology and immunophenotype of the mass were in line with the diagnosis of SMARCA4-deficient thoracic sarcoma. In the course of his treatment, the patient showcased a partial response to pembrolizumab and the combination of pembrolizumab and ipilimumab. This case report highlights the importance of recognizing SMARCA4-deficient thoracic sarcoma as an individual entity and supports the importance of checkpoint inhibition therapy for SMARCA4-deficient thoracic sarcomas, particularly in cases with a high TMB and PD-L1 expression.Eccrine porocarcinoma is a rare malignant cutaneous tumor with high rates of extracutaneous spread, and its diagnosis and management can be quite challenging. This is a case of an 82-year-old woman presenting with an asymptomatic and chronic pubic skin lesion for whom the work-up required many investigations and procedures to confirm the diagnosis of metastatic eccrine porocarcinoma. Indeed, the patient underwent a wide local excision of the skin lesion, imaging with an FDG-PET scan, a colonoscopy, and two inguinal node dissections. As illustrated in this case, surgery should always be considered to achieve disease remission. Other treatments such as chemotherapy and radiotherapy have also been reported in the literature without clear standard guidelines.A male infant had the very fragile skin and easily formed bullas by rubbing and scratching from his birth. He was diagnosed with severe recessive dystrophic epidermolysis bullosa (RDEB) due to the lack of type VII collagen by performing an immunofluorescence mapping method from a skin biopsy specimen of the patient's bulla. We analyzed the skin microbiome using next-generation sequencer. The species from the patient's skin revealed the dominance of Staphylococcus aureus (S. aureus) similar to the reports from Austria and Chile severe RDEB patients, and these results are same as the pattern isolated from the skin of atopic dermatitis (AD) patients with flares. The interaction of microbiome and skin microenvironment may be similar between RDEB and AD worldwide.Nevus sebaceous (NS) is a benign tumor with the potential to develop secondary benign and malignant neoplasms. It is a rare phenomenon to develop 2 or more skin tumors in a single NS lesion. We report a case of multiple secondary tumors, such as sebaceoma, sebaceous carcinoma, syringocystadenoma papilliferum, and trichoblastoma, in a single NS lesion.Lupus erythematosus (LE) is an autoimmune disorder commonly affecting the skin; cutaneous lesions may indicate systemic involvement, warranting further evaluation. Photosensitivity, which may result in hyperpigmentation, is a well-known feature of the disease. In contrast, the prevalence of primary hyperpigmentation as a presenting sign of LE is not well established. Here, we compare 3 unique cases of diffuse facial hyperpigmentation as the primary manifestation of LE (cutaneous or systemic) and review previously reported cases. Our data highlight the need for considering LE in the differential diagnosis of facial hyperpigmentation and substantiate the importance of this unique lupus variant in early diagnosis and patient evaluation.