Primary squamous cell carcinoma of the breast: A rare case report

BackgroundSquamous cells are normally not found inside the breast. Therefore, a primary squamous cell carcinoma of the breast is an exceptional phenomenon and the management of this type of disease is still debated.AimClinical outcome assessment of a patient with squamous cell carcinoma of the breast.Materials and methodsWe report a case of primary squamous cell carcinoma of the breast (T1cN0M0) in a 51-years-old woman who underwent breast conserving surgery plus adjuvant chemotherapy and radiation therapy (RT).ResultsWith a follow up of 43 months, the patient is alive with no evidence of local or distant recurrence. The patient had Grade 2 acute skin toxicity. No late skin or respiratory toxicity was observed.ConclusionsPure primary squamous cell carcinoma of the breast is a rare and aggressive disease, often treatment-refractory. Our case shows that the addition of RT after breast conserving surgery, allows to achieve a high local control without adding severe toxicity. A multidisciplinary approach seems to be the optimal management for early stages in this rare disease.     

Fine needle aspiration biopsy of three cases of squamous cell carcinoma presenting as a thyroid mass: cytological findings and differential diagnosis

M. Rosa and K. Toronczyk Fine needle aspiration biopsy of three cases of squamous cell carcinoma presenting as a thyroid mass: cytological findings and differential diagnosis Objective: Primary squamous cell carcinomas of the thyroid gland are extremely rare, comprising about 1% of thyroid malignancies. Although squamous cell carcinomas are readily identified as such on aspiration cytology in the majority of cases, the differentiation of primary versus metastatic tumour might not always be easy. Herein, we report three cases of squamous cell carcinomas involving the thyroid gland. Methods: Fine needle aspiration cytology (FNAC) was performed in three patients with a thyroid mass using standard guidelines. Smears were stained with Diff‐Quik and Papanicolaou stains. Results: Two patients were male and one was female, aged 59, 45 and 35 years, respectively. In all three patients a thyroid mass was present. FNAC smears in all cases showed cytological features of squamous cell carcinoma including keratinization and necrosis. After clinical and cytological correlation, one case appeared to be primary, one case metastatic, and in the third case no additional clinical information or biopsy follow‐up was available for further characterization. Conclusions: Because primary squamous cell carcinoma of the thyroid is a rare finding, metastatic squamous cell carcinoma should always be excluded first. Metastatic disease usually presents in the setting of widespread malignancy, therefore a dedicated clinical and radiological investigation is necessary in these cases. In both clinical scenarios the patient’s prognosis is poor.     

Genetic mutations in Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in a dominant autosomal at a high level of penetrance and variable expressiveness. It is mainly characterized by basal cell carcinoma, odontogenic keratocyst and skeletal anomalies. Diagnosis is based upon established major and minor clinical and radiographic criteria and gene mutation analysis. This article presents a case of Gorlin-Goltz syndrome, its genetic predisposition, diagnosis and management.     

Incidental Finding of Metastatic Papillary Thyroid Carcinoma in a Patient with Primary Hyperparathyroidism

ObjectiveTo report on the management of a patient with the rare concurrence of primary hyperparathyroidism and incidentally found metastatic papillary thyroid carcinoma in an adjacent lymph node.MethodsWe present a case report, including scintigraphic and histologic documentation, and a summary of the related literature.ResultsPrimary hyperparathyroidism with concomitant occurrence of nonmedullary thyroid carcinoma is rare, occurring in less than 4% of patients. We report a case of a 53-year-old woman with no prior history of endocrine disease with primary hyperparathyroidism and an incidental finding of a concurrent thyroid carcinoma. In this patient, technetium 99m scintigraphy revealed a parathyroid adenoma beneath the inferior pole of the left thyroid bed. Parathyroidectomy was performed successfully with no complications. The final pathology examination showed a large parathyroid adenoma with an incidental finding of a small adjacent lymph node containing metastatic papillary thyroid carcinoma. The patient subsequently underwent total thyroidectomy, and the pathology evaluation revealed papillary thyroid carcinoma, follicular variant.ConclusionTo our knowledge, this case of concomitant primary hyperparathyroidism and papillary thyroid cancer is unique in the way in which the diagnosis of metastatic papillary thyroid cancer was made. The presence of parathyroid adenoma should not exclude the diagnosis of thyroid carcinoma; therefore, careful thyroid evaluation should be considered for all patients with primary hyperparathyroidism. (Endocr Pract. 2007;13:380-383)     

Metastatic Renal Cell Carcinoma to the Thyroid Gland

ObjectiveTo examine the presentation, diagnosis, and appropriate management of renal clear cell carcinoma metastasis to the thyroid gland.MethodsWe describe a clinical case of solitary thyroid metastasis from renal clear cell carcinoma and present a comprehensive review of the related English-language literature. Common patterns of presentation and generalized overall management recommendations are evaluated and summarized.ResultsEight years after nephrectomy for renal carcinoma at age 61 years, a man presented with a thyroid mass. Cytology and histopathologic surgical findings were consistent with a solitary metastasis most compatible with metastatic clear cell carcinoma from his previous renal carcinoma. After left thyroid lobectomy and isthmusectomy, the patient remains disease-free 5 years later. Although uncommon, nearly 150 cases of clinically recognized metastatic renal cell carcinoma to the thyroid have been reported in the English-language literature. Metastatic disease from the kidney to the thyroid gland can occur more than 20 years after nephrectomy with the average time interval being 7.5 years. Obtaining a full clinical history in any patient who presents with a thyroid nodule is essential to allow consideration of possible metastatic disease from previous primary tumor. Metastatic disease to the thyroid gland can be correctly diagnosed preoperatively. If metastatic renal cancer is limited to the thyroid gland only, prompt, appropriate surgical intervention can be curative.ConclusionMetastatic renal carcinoma to the thyroid should be considered in any patient presenting with a thyroid mass and a medical history of renal cell carcinoma. (Endocr Pract. 2008;14:1040-1046)     

Radiation induced esophageal adenocarcinoma in a woman previously treated for breast cancer and renal cell carcinoma

ABSTRACT: BACKGROUND: Secondary radiation-induced cancers are rare but well-documented as long-term side effects of radiation in large populations of breast cancer survivors. Multiple neoplasms are rare. We report a case of esophageal adenocarcinoma in a patient treated previously for breast cancer and clear cell carcinoma of the kidney CASE PRESENTATION: A 56 year-old non smoking woman, with no alcohol intake and no familial history of cancer; followed in the National Institute of Oncology of Rabat Morocco since 1999 for breast carcinoma, presented on consultation on January 2011 with dysphagia. Breast cancer was treated with modified radical mastectomy, 6 courses of chemotherapy based on CMF regimen and radiotherapy to breast, inner mammary chain and to pelvis as castration. Less than a year later, a renal right mass was discovered incidentally. Enlarged nephrectomy realized and showed renal cell carcinoma. A local and metastatic breast cancer recurrence occurred in 2007. Patient had 2 lines of chemotherapy and 2 lines of hormonotherapy with Letrozole and Tamoxifen assuring a stable disease. On January 2011, the patient presented dysphagia. Oesogastric endoscopy showed middle esophagus stenosing mass. Biopsy revealed adenocarcinoma. No evidence of metastasis was noticed on computed tomography and breast disease was controlled. Palliative brachytherapy to esophagus was delivered. Patient presented dysphagia due to progressive disease 4 months later. Jejunostomy was proposed but the patient refused any treatment. She died on July 2011 CONCLUSION: we present here a multiple neoplasm in a patient with no known family history of cancers. Esophageal carcinoma is most likely induced by radiation. However the presence of a third malignancy suggests the presence of genetic disorders.     

Altered PTEN expression; a diagnostic marker for differentiating normal, hyperplastic and neoplastic endometrium

Background

Primary non-Hodgkin lymphoma (NHL) of the breast represents 0.04–0.5% of malignant lesions of the breast and accounts for 1.7–2.2% of extra-nodal NHL. Most primary cases are of B-cell phenotype and only rare cases are of T-cell phenotype. Anaplastic large cell lymphoma (ALCL) is a rare T-cell lymphoma typically seen in children and young adults with the breast being one of the least common locations. There are a total of eleven cases of primary ALCL of the breast described in the literature. Eight of these cases occurred in proximity to breast implants, four in relation to silicone breast implant and three in relation to saline filled breast implant with three out of the eight implant related cases having previous history of breast cancer treated surgically. Adjuvant postoperative chemotherapy is given in only one case. Secondary hematological malignancies after breast cancer chemotherapy have been reported in literature. However in contrast to acute myeloid leukemia (AML), the association between lymphoma and administration of chemotherapy has never been clearly demonstrated.

Case Presentation

In this report we present a case of primary ALCL of the breast arising in reconstruction mamoplasty capsule of saline filled breast implant after radical mastectomy for infiltrating ductal carcinoma followed by postoperative chemotherapy twelve years ago.

Conclusion

Primary ALK negative ALCL arising at the site of saline filled breast implant is rare. It is still unclear whether chemotherapy and breast implantation increases risk of secondary hematological malignancies significantly. However, it is important to be aware of these complications and need for careful pathologic examination of tissue removed for implant related complications to make the correct diagnosis for further patient management and treatment. It is important to be aware of this entity at this site as it can be easily misdiagnosed on histologic grounds and to exclude sarcomatoid carcinoma, malignant melanoma and pleomorphic sarcoma by an appropriate panel of immunostains to arrive at the correct diagnosis of ALCL.     

Primary squamous cell carcinoma of the pancreas: a case report and review of the literature

ABSTRACT: INTRODUCTION: Primary squamous cell carcinoma of the pancreas is a rare tumor with poor prognosis and is found in the literature only as case reports. The optimal management course remains poorly defined. We present a case of primary basaloid squamous cell carcinoma of the pancreas metastatic to the liver, which was treated with surgery and systemic chemotherapy. Our patient survived for 15 months: the longest survival reported in the literature to date. CASE PRESENTATION: A 70-year-old Caucasian man presented to hospital with a three-month history of weight loss, pruritus and icterus. Imaging studies confirmed the presence of an operable mass lesion in the head of the pancreas. Following a pancreaticoduodenectomy, histology results led us to make a diagnosis of squamous cell carcinoma. Postoperative restaging showed multiple metastases in the liver. He underwent palliative systemic chemotherapy with cisplatin and 5-fluorouracil achieving partial response and an excellent quality of life. He then went on to start second-line chemotherapy, but unfortunately died of sepsis soon thereafter. CONCLUSIONS: This case report emphasizes that achievement of a worthwhile objective and symptomatic palliative response is possible using platinum-based chemotherapy in squamous cell carcinoma of the pancreas.     

Squamous cell carcinoma arising in a meningomyelocele.

Squamous cell carcinoma developed in the meningomyelocele of a 25-year-old man. This is the third such case reported. The possibility of malignant disease arising in this congenital defect must be taken into account when treatment is being considered.     

Molecular and genomic characterisation of a panel of human anal cancer cell lines

Anal cancer is a rare disease that has doubled in incidence over the last four decades. Current treatment and survival of patients with this disease has not changed substantially over this period of time, due, in part, to a paucity of preclinical models to assess new therapeutic options. To address this hiatus, we set-out to establish, validate and characterise a panel of human anal squamous cell carcinoma (ASCC) cell lines by employing an explant technique using fresh human ASCC tumour tissue. The panel of five human ASCC cell lines were validated to confirm their origin, squamous features and tumourigenicity, followed by molecular and genomic (whole-exome sequencing) characterisation. This panel recapitulates the genetic and molecular characteristics previously described in ASCC including phosphoinositide-3-kinase (PI3K) mutations in three of the human papillomavirus (HPV) positive lines and TP53 mutations in the HPV negative line. The cell lines demonstrate the ability to form tumouroids and retain their tumourigenic potential upon xenotransplantation, with varied inducible expression of major histocompatibility complex class I (MHC class I) and Programmed cell death ligand 1 (PD-L1). We observed differential responses to standard chemotherapy, radiotherapy and a PI3K specific molecular targeted agent in vitro, which correlated with the clinical response of the patient tumours from which they were derived. We anticipate this novel panel of human ASCC cell lines will form a valuable resource for future studies into the biology and therapeutics of this rare disease.Subject terms: Targeted therapies, Anal cancer, Immune evasion, Cancer models     

Mucoepidermoid carcinoma of lung masquerading as urothelial carcinoma of bladder

Background

Mucoepidermoid carcinoma (MEC) of the lung is a rare subtype of non-small cell lung cancer. There is no consensus regarding optimal management for this disease.

Case report

We present a case of MEC of the lung in a 75 year-old female with a history of superficial urothelial carcinoma of the bladder. The patient was found to have an asymptomatic lung mass. Initial biopsy suggested metastatic recurrence of urothelial carcinoma and therefore, cisplatin and gemcitabine chemotherapy was administered prior to surgical resection. Pathological analysis of the resected specimen confirmed a diagnosis of stage IIIA MEC with focal high-grade features including transitional cell-like areas. Adjuvant radiotherapy was administered due to a positive microscopic resection margin. No chemotherapy was given due to lack of supporting data. The patient developed widespread metastatic disease 3 months following completion of radiotherapy and died 1 month later.

Conclusion

This case demonstrates the possibility of dual pathology in cases where metastatic disease is suspected. The use of small tissue samples may complicate diagnosis due to the heterogeneity of malignant tumours.     

Fine needle aspiration biopsy of primary mucinous carcinoma of the skin: a case report

BACKGROUND: Primary mucinous carcinoma of the skin is a rare neoplasm of sweat gland origin. To date there are only 2 case reports in English describing its features on fine needle aspiration biopsy (FNAB). We describe an additional case and review the literature regarding this entity. To the best of our knowledge, this is the first reported case with a sentinel lymph node biopsy. CASE: A 78-year-old woman presented with a 3-cm left scalp mass at an outside institution. Following incomplete excision, multiple subcentimeter nodules developed in the skin adjacent to the biopsy site. FNAB of the nodules confirmed a recurrence of mucinous carcinoma. Clinical examination and extensive radiographic studies did not reveal primary disease elsewhere, thus supporting a diagnosis of primary mucinous carcinoma of the skin. At the time of wide excision of the residual tumor, sentinel lymph node biopsy revealed a single focus of micrometastasis. The patient declined adjuvant therapy and was disease free 6 months after the initial diagnosis. CONCLUSION: Cutaneous mucinous carcinoma is a tumor characterized by bland histocytologic features and abundant extracellular pools of mucin. Without a high index of suspicion, this rare entity may be overlooked or misdiagnosed. Numerous benign and malignant mucin-producing primary and secondary mimics exist, and immunohistochemistry offers limited benefits in differentiating them. Cytologic diagnosis of primary mucinous carcinoma of the skin is possible; however, correlation of clinical, radiologic and pathologic features is necessary to arrive at an accurate diagnosis.     

Epididymal metastasis from carcinoma of the prostate

Epididymal Metastasis from a primary carcinoma of the prostate gland is a rare but recognised phenomena. We describe a case of such metastasis which, unlike previous reports, presents as a painful epididymal mass. Therefore it is important for urologists to consider epididymal metastasis as part of the differential diagnosis in a patient with known carcinoma of the prostate and a tender epididymal mass.     

Tubulocystic Renal Cell Carcinoma: A Great Imitator

Tubulocystic renal cell carcinoma (TCRC) is a rare renal tumor. Patients are usually asymptomatic; it is usually detected incidentally, during imaging studies for Bosniak type III and type IV renal cysts. These tumors rarely metastasize. The role of targeted therapy in such rare tumors is still controversial. We report a case of TCRC initially presented as a Bosniak type II renal cyst and was discovered ultimately to be a metastatic disease. This type of presentation might broaden our understanding of this rare disease.     

Alexander Disease: A Leukodystrophy Caused by a Mutation in GFAP

Alexander disease, a rare fatal disorder of the central nervous system, causes progressive loss of motor and mental function. Until recently it was of unknown etiology, almost all cases were sporadic, and there was no effective treatment. It was most common in an infantile form, somewhat less so in a juvenile form, and was rarely seen in an adult-onset form. A number of investigators have now shown that almost all cases of Alexander disease have a dominant mutation in one allele of the gene for glial fibrillary acidic protein (GFAP) that causes replacement of one amino acid for another. Only in very rare cases of the adult-onset form is the mutation present in either parent. Thus, in almost all cases, the mutation arises as a spontaneous event, possibly in the germ cell of one parent.     

Delayed reconstruction of the upper digestive tract in a patient following total pharyngolaryngectomy with resection of the cervical oesophagus

Carcinoma of the hypopharynx is an uncommon disease, with an annual incidence of approximately 1 in 100,000. Post-cricoid carcinoma is more common in women and is not usually associated with tobacco and alcohol abuse. Reconstruction of large pharyngeal defects following surgery for squamous cell carcinoma is complex and often requires microvascular free tissue transfer to achieve the best oncological and functional outcomes. The most common complications of such procedures include fistulas and strictures of the neopharynx. Here, we describe a case of a female patient admitted to the Head and Neck Department at our hospital to undergo delayed reconstruction following pharyngolaryngectomy and removal of the cervical oesophagus. Several complications occurred during post-operative care, including stricture and skin dehiscence. At present, the patient is able to swallow saliva and is currently being prepared to return to a normal diet.     

Combined Hepatocellular–Cholangiocarcinoma with Fever of Unknown Origin: A Case Report and Review of Literature

Combined hepatocellular carcinoma and cholangiocarcinoma (cHCC–CC) is a rare form of primary liver cancer (PLC). It is difficult to make a correct preoperative diagnosis of cHCC–CC because of the lack of special features of the disease. We here present a case of a 68-year-old man who presented with fluctuant fever, chills, and sweating and was eventually diagnosed as cHCC–CC after surgery. The tumor was 6.0 cm in diameter with distinct borders and no satellite lesions or lymph nodes were observed during macroscopic examination of the resection specimen. The fever resolved in the postoperative period till the 28th day after surgery, when the patient developed extensive abdominal metastases and died shortly after. More attention should be paid to the patient with PLC showing abnormal features such as FUO, normal range of tumor markers, atypical imaging, and less cirrhosis. Hepatic resection is the treatment of choice although with short-term outcomes.     

Cytopathology of extramedullary plasmacytoma of the bladder: a case report

BACKGROUND: Plasmacytoma of the bladder is an extremely rare tumor, with all information concerning this neoplasm derived from case reports. It can be a major diagnostic pitfall on both histology and urine cytology. CASE: A 95-year-old woman presented with gross hematuria and a large bladder mass detected by ultrasound. The case was initially misdiagnosed as a high grade urothelial carcinoma. Since the urine cytology did not show the classical cytologic features of urothelial carcinoma, the histologic sections were reviewed and immunohistochemical staining performed. The final diagnosis was plasmacytoma of the bladder. Subsequently the patient underwent a skeletal survey and bone scan, which did not reveal any lesion suspicious for multiple myeloma. The patient was scheduled for radiotherapy. CONCLUSION: In this case of bladder plasmacytoma, urine cytology provided a clue to the diagnosis. Urine cytology can be a diagnostic tool to help make this diagnosis in the case of poorly differentiated bladder neoplasm, especially in a patient with a known history of multiple myeloma.     

Gynecomasty as a first sign of adrenal carcinoma--case report

We present a case of 50 year-old man with feminizing adrenal carcinoma. He was admitted to the hospital because of weakness and one year history of gynecomastia and high blood pressure. Examinations revealed a large left adrenal mass and increased levels of estradiol. Patient underwent adrenalectomy and followed by mitotan therapy as the result of histopathological examination was adrenocortical carcinoma. One year after operation patient stays free from the recurrence of the disease and his estradiol, androstendion and DHEA levels are below the detection limits. We report this case because feminizing adrenal carcinoma is a very rare but serious disease and gynecomastia that could be its manifestation is quite frequent symptom in men's population and thus it could easily be missed. In every case of gynecomastia related to estradiol excess feminizing tumors of testis and adrenal gland should be ruled out.     

Efficient immortalization and morphological transformation of human fibroblasts by transfection with SV40 DNA linked to a dominant marker

Immortal cell lines are essential for genetic and biochemical studies. Unlike rodent cells, which will form continuously growing cultures either spontaneously or after infection with an oncogenic virus (e.g., Simian Virus 40 (SV40)), human cells fail to form continuous cell lines spontaneously and in only rare cases from cell lines after oncogenic virus infection. We have used a plasmid (pSV3gpt) containing both the SV40 early region encoding T antigen and the bacterial gene xanthine-guanine phosphoribosyl transferase (gpt) to achieve high efficiency morphological transformation and immortalization of primary human skin fibroblasts. Transfection of this plasmid into primary human skin fibroblasts derived from a normal individual, two Cockayne's syndrome patients, and an immuno-deficient patient and selection for the gpt gene resulted in an altered cell morphology and growth properties characteristic of previously described SV40-transformed cells. Transfected cultures subsequently senesced, entered crisis and in each case formed a rapidly growing culture. The high efficiency of immunortalization described here (four out of four cell strains) is in contrast to previously described procedures utilizing focal overgrowth. We suggest that the use of a dominant selectable marker linked to the SV40 early region increases the probability of establishing an immortal human cell line.