S-100-negative, GNA11 mutation-positive intramedullary meningeal melanocytoma of the thoracic spine: A radiographic challenge and histologic anomaly

Background: Intramedullary melanocytomas are exceedingly rare and their management is largely based on case reports and small clinical series. They have characteristic imaging and histologic findings that can aid in their diagnosis. Genetic testing may be required for definitive diagnosis and management guidance in ambiguous cases. Case Description: We present the case of a thoracic intramedullary meningeal melanocytoma in a patient unable to undergo an MRI. Conclusion: This is the first reported S-100-negative case with genetic testing to support the diagnosis of a rare intramedullary melanocytoma.

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Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

Journal of Medical Case Reports ◽

10.1186/s13256-021-02852-z ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Rei Hirose ◽

Yuya Tsurutani ◽

Chiho Sugisawa ◽

Kosuke Inoue ◽

Sachiko Suematsu ◽

...

Keyword(s):

Genetic Testing ◽

Succinate Dehydrogenase ◽

Novel Mutation ◽

Case Reports ◽

Site Mutation ◽

Japanese Family ◽

Paraganglioma Syndrome ◽

Succinate Dehydrogenase Subunit B ◽

Hereditary Pheochromocytoma ◽

Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

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Cystic Fibrosis in two Ghanaian Children

10.25259/jpats_10_2021 ◽

2021 ◽

Vol 2 ◽

pp. 167-170 ◽

Cited By ~ 1

Author(s):

Sandra Kwarteng Owusu ◽

Gabrielle Obeng-Koranteng ◽

Sandra Laryea Odai ◽

Marie Charlyne Fatima Kilba ◽

Parbie Abbeyquaye ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Severe Acute Malnutrition ◽

Case Reports ◽

African Descent ◽

Genetic Disorder ◽

Pancreatic Insufficiency ◽

Acute Malnutrition ◽

Diagnostic Tools ◽

Sweat Testing

Cystic fibrosis (CF) is a severe life-limiting genetic disorder resulting from mutations in the cystic fibrosis transmembrane regulator gene and is reported to be more prevalent among Caucasians than people of African descent. The past three decades have seen a gradual increase in the reporting of CF in non-European populations with CF in all regions including Africa. We report on the first two known Ghanaian children diagnosed with CF presenting early in infancy. The first patient presented with severe acute malnutrition and persistent diarrhea resulting from severe exocrine pancreatic insufficiency. In the second patient, there were recurrent wheeze and recurrent pneumonia, severe dehydration with metabolic alkalosis. Diagnosis of CF in Ghana is challenging due to the absence of diagnostic tools such as sweat testing equipment. In the first patient, sweat testing and genetic testing were done in South Africa. In the second patient, sweat testing was not done but diagnosis was confirmed by genetic testing. Both patients presented with classical CF symptoms including Pseudomonas aeruginosa airway infection before age 6 months. Both children are currently alive and healthy on appropriate treatment. These case reports highlight the growing evidence of CF occurring in people of African descent and the diagnostic challenges faced in Africa.

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Anaplastic myxopapillary ependymoma of the sacrum: A case report

Surgical Neurology International ◽

10.25259/sni_277_2021 ◽

2021 ◽

Vol 12 ◽

pp. 285

Author(s):

Abolfazl Rahimizadeh ◽

Zahed Malekmohammadi ◽

Parviz Habibollahzadeh ◽

Walter L. Williamson ◽

Ava Rahimizadeh

Keyword(s):

Back Pain ◽

Case Report ◽

Lower Back Pain ◽

Medical Literature ◽

Case Reports ◽

Surgical Excision ◽

Young Female ◽

Myxopapillary Ependymoma ◽

Case Description ◽

Lower Back

Background: Myxopapillary ependymoma (MPE) with anaplastic features is extremely rare. There are very few such case reports in the medical literature. Case Description: A 23-year-old female presented with lower back pain, and both urinary and fecal dysfunction. The patient underwent gross total surgical excision of the MR documented expansile intrasacral tumor. The histology was compatible with a MPE containing anaplastic features. Conclusion: The medical literature contains a few comparable cases of subcutaneous sacrococcygeal MPE with anaplastic components. Here, however, we have a young female with an anaplastic intrasacral MPE treated with gross total surgical excision.

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A Case of Previously Unsuspected Huntington Disease Diagnosed at Autopsy

Academic Forensic Pathology ◽

10.23907/2017.016 ◽

2017 ◽

Vol 7 (1) ◽

pp. 136-144

Author(s):

Catherine R. Miller ◽

Nobby C. Mambo ◽

Jianli Dong ◽

Gerald A. Campbell

Keyword(s):

Genetic Testing ◽

Huntington Disease ◽

Clinical Symptoms ◽

Neurodegenerative Disorder ◽

Case Reports ◽

Neuronal Loss ◽

Cag Repeat ◽

Cag Repeats ◽

Psychiatric Disturbances ◽

Personality Changes

Huntington disease (HD) is a neurodegenerative disorder with a worldwide prevalence of four to ten per 100 000. It is characterized by choreiform movements, behavioral/psychiatric disturbances, and eventual cognitive decline. Symptoms usually present between 30 and 50 years of age and the diagnosis is based on the combination of clinical symptoms, family history, and genetic testing. A variation of HD, juvenile Huntington disease (JHD), presents earlier, with more severe symptoms and with a worse prognosis. Symptoms are different in JHD, with personality changes and learning difficulties being the predominant presenting features. Seizures are common in JHD, and chorea is uncommon; movement disorders at presentation of JHD are predominantly nonchoreiform. The inheritance pattern for both HD and JHD is autosomal dominant and the disease is caused by an elongation of the CAG repeat in the huntingtin gene. There are many published case reports of Huntington disease that were confirmed at autopsy, but to our knowledge, there are no reports in the literature where the diagnosis of Huntington disease was first made at autopsy. We present a case of a 28-year-old African-American male who was in a state of neglect due to a lifetime of abuse, cognitive difficulties, and seizures, whose cause of death was pneumonia. The gross autopsy findings included bilateral caudate nucleus atrophy and lateral ventricular dilation. Microscopically, severe bilateral neuronal loss and gliosis of the caudate and putamen nuclei were seen. Genetic testing for the number of CAG repeats confirmed the diagnosis and was consistent with JHD.

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Tamoxifen-associated eye disease. A review.

Journal of Clinical Oncology ◽

10.1200/jco.1996.14.3.1018 ◽

1996 ◽

Vol 14 (3) ◽

pp. 1018-1026 ◽

Cited By ~ 112

Author(s):

S G Nayfield ◽

M B Gorin

Keyword(s):

Breast Cancer ◽

Adverse Effects ◽

Macular Edema ◽

Case Reports ◽

Eye Disease ◽

High Dose ◽

Ocular Toxicity ◽

Early Stage Disease ◽

Clinical Series

PURPOSE The oral antiestrogen tamoxifen has demonstrated efficacy in the treatment of metastatic breast cancer and as adjuvant therapy in early-stage disease. Clinical trials of tamoxifen in chemoprevention of breast cancer among high-risk women have focused attention on potential adverse effects of long-term tamoxifen use, including the possibility of ocular toxicity. This review evaluates the published case reports, clinical series, and clinical trial data on ocular toxicities attributed to tamoxifen. Clinical issues of surveillance, differential diagnosis, and management of tamoxifen-related eye disease are discussed. DESIGN National Library of Medicine online bibliographic services were used to identify case reports and clinical studies of ocular adverse effects that occurred in patients receiving tamoxifen published through the fall of 1994. The medical literature relevant to issues raised by the reports and studies was similarly identified and reviewed. RESULTS Case reports and case series identify crystalline retinal deposits, macular edema, and corneal changes as potential tamoxifen ocular toxicities. Extensive retinal lesions and macular edema with visual impairment have been reported in a few patients receiving high-dose tamoxifen. Less extensive retinal changes may occur in patients receiving low doses for long periods, and isolated retinal crystals may be observed in patients without visual symptoms. CONCLUSION Ocular toxicity is uncommon in the current clinical setting of long-term, low-dose tamoxifen use. Physicians should be aware of the potential for ocular toxicity among patients receiving the drug and should assure appropriate surveillance and prompt evaluation of visual complaints.

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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Case Reports in Genetics ◽

10.1155/2019/9382640 ◽

2019 ◽

Vol 2019 ◽

pp. 1-8

Author(s):

T. M. Morgan ◽

J. M. Colazo ◽

L. Duncan ◽

R. Hamid ◽

K. M. Joos

Keyword(s):

Genetic Testing ◽

Posterior Fossa ◽

Case Reports ◽

Infantile Hemangioma ◽

Cardiac Defects ◽

Case Presentation ◽

Female Patients ◽

Phace Syndrome ◽

Diagnostic Criterion ◽

Arterial Anomalies

Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

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Cecal Mucosal Myxoma: The First Report of a New Type of Mesenchymal Colon Polyp

International Journal of Surgical Pathology ◽

10.1177/1066896919843625 ◽

2019 ◽

Vol 27 (6) ◽

pp. 693-696

Author(s):

Caroline Bsirini ◽

Jennifer J. Findeis-Hosey ◽

Aaron R. Huber

Keyword(s):

Case Reports ◽

Colonic Polyp ◽

Screening Colonoscopy ◽

Unknown Etiology ◽

Positive Staining ◽

Gi Tract ◽

Sessile Polyp ◽

First Case ◽

S 100 ◽

New Type

Myxomas are benign mesenchymal neoplasms of unknown etiology that most commonly occur in the cardiac atrium; however, other reported sites include the skin, joints, skeletal muscles, maxillofacial bones, and sinonasal tract. Myxomas involving the gastrointestinal (GI) tract are rare and are limited to a few published case reports. We are presenting, to our knowledge, the first case report of a mucosal myxoma in the colon presenting as a colonic polyp. A 49-year-old woman underwent a screening colonoscopy and was found to have a 0.2-cm sessile polyp in the cecum. Histologically, the polyp was composed of bland spindled cells in the lamina propria set in a hypocellular, myxoid stroma. The lesion was relatively well-demarcated from the surrounding mucosa. The overlying colonic epithelium showed no dysplasia. S-100 immunohistochemical stain showed only focal nonspecific positivity, while CD34, CD117, SMA, EMA, and desmin were all negative. Alcian blue special stain showed positive staining, supporting the diagnosis of myxoma. Myxomas in the GI tract are very rare, with this being the first reported case of a polypoid colonic mucosal myxoma. Previous reports of GI myxomas are limited to examples in the stomach, small bowel, and one recently reported case in the colon, all of which were submucosal lesions and not limited to the mucosa. In some of the prior reports, the patients had synchronous cardiac atrial myxomas. Mucosal colonic myxoma represents a newly identified mesenchymal polyp of the colon and pathologists should be aware of this diagnostic entity.

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A rare imaging case of bilateral plasmacytoma of the breast

BJR|case reports ◽

10.1259/bjrcr.20190131 ◽

2020 ◽

Vol 6 (2) ◽

pp. 20190131

Author(s):

Joleen Kirsty Eden ◽

Rita Borgen ◽

Rabea Haq ◽

Richard Dobrashian

Keyword(s):

Breast Cancer ◽

Multiple Myeloma ◽

Learning Outcomes ◽

Case Reports ◽

Definitive Diagnosis ◽

High Grade ◽

Nodal Involvement ◽

Cross Sectional ◽

Cross Sectional Imaging ◽

Sectional Imaging

This case reports on secondary extramedullary multiple myeloma within both breasts in the absence of axillary nodal involvement and discusses the difficulty in interpretation with clinical recommendations and learning outcomes. Differentiating plasmacytic lesions in the breast is often difficult as clinical and radiological appearances are known to mimic benignity and high-grade primary breast cancer. Extramedullary presentation can determine progression of the disease and can necessitate cross-sectional imaging. Therefore definitive diagnosis is essential as the clinical management of the patient may be altered.

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Splenic tuberculosis: a comprehensive review of literature

Polish Journal of Surgery ◽

10.5604/01.3001.0012.1754 ◽

2018 ◽

Vol 90 (5) ◽

pp. 33-37

Author(s):

ASHISH GUPTA

Keyword(s):

Consensus Statement ◽

Case Reports ◽

Developed Countries ◽

Definitive Diagnosis ◽

Review Of Literature ◽

Pulmonary Tb ◽

Splenic Tuberculosis ◽

The Developed Countries ◽

Insight Into ◽

Common Infections

Tuberculosis(TB) is one of the most common infections affecting the population in the developing countries. With the rising human immunodeficiency(HIV) infection its incidence is on a rise even in the developed countries. Pulmonary TB is the commonest form of infection, However, multiple extrapulmonary sites have also been reported. The spleen is thought to be a rare organ involved in this infection. Various presentations of the splenic TB have been reported in the literature. The definitive diagnosis of this is essentially formulated on the post-splenectomy specimen. A consensus statement based on the available case reports is lacking. The authors are providing an insight into this form of extrapulmonary TB after reviewing the available literature.

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Studying the Association Between Breast Cancer and Renal Cell Carcinoma

10.21203/rs.3.rs-841536/v1 ◽

2021 ◽

Author(s):

Khalid A Jazieh ◽

Firas Baidoun ◽

Nataly Torrejon ◽

Zahi Merjaneh ◽

Anas Saad ◽

...

Keyword(s):

Breast Cancer ◽

Renal Cell Carcinoma ◽

Genetic Testing ◽

Family History ◽

Cell Carcinoma ◽

Renal Cell ◽

Case Reports ◽

Population Data ◽

Seer Database ◽

History Of

Abstract Purpose: There are case reports of patients with both primary breast cancer (BC) and renal cell carcinoma (RCC). We explore the association between these two malignancies using SEER population data and our institutional records.Methods: We studied the association between BC and RCC in the 2000-2016 Surveillance, Epidemiology and End Results (SEER) database. We then reviewed our hospital records of patients with both BC and RCC and collected information including personal and family history of cancers, genetic testing, and patient outcomes.Results: Of the 813,477 females diagnosed with BC in the SEER database, 1,914 later developed RCC. The risk of developing RCC was significantly increased within the first six months, 7-12 months, and 1-5 years following BC diagnosis with standardized incidence ratios (SIRs) of 5.08 (95% CI, 4.62- 5.57), 2.09 (95% CI, 1.8-2.42), and 1.15 (95% CI, 1.06-1.24), respectively. Of 56,200 females with RCC, 1,087 later developed BC. The risk of developing BC following RCC was elevated within the first six months (SIR of 1.45 [95% CI, 1.20-1.73]). For our hospital patients, 437 had both BC and RCC. 427 (97.71%) were female, and 358 (81.92%) were white, and breast cancer was diagnosed before RCC in 246 (61.5%) patients. There were 15 germline mutations in those with genetic testing. Conclusion:Our findings suggest that BC patients are at higher risk of developing RCC and vice versa. BC tended to precede RCC, and patients frequently had personal histories of other malignancies and a family history of cancer, particularly BC.

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