Aanand A. Patel, Anthony Sisk, Jonathan E. Zuckerman
{"title":"Niemann-Pick disease type C with kidney involvement","authors":"Aanand A. Patel, Anthony Sisk, Jonathan E. Zuckerman","doi":"10.1016/j.ehpc.2021.200486","DOIUrl":"10.1016/j.ehpc.2021.200486","url":null,"abstract":"<div><p>Niemann-Pick disease type C is a lysosomal storage disease characterized by defects in lipid trafficking, typically involving the liver, spleen, and central nervous system. Only rare reports of renal involvement of Niemann-Pick disease have been reported and to date have only been described in type A and B forms of the disease. We report for the first time the kidney biopsy findings in a 21-year-old woman with Niemann-Pick disease type C and nephrotic-range proteinuria. Light microscopy demonstrated foamy podocytes, vacuolated tubular epithelial cells and collections of foam cells in the interstitium. Focal segmental glomerulosclerosis as well as diffuse global glomerulosclerosis were present. Electron microscopy showed myelin-like inclusions in podocytes, endothelial cells, tubular and epithelial cells. The inclusions were similar to those found in Fabry’s disease. This case illustrates Niemann-Pick disease as an important differential diagnosis for myeloid bodies. Additionally, this case highlights that glomerular involvement by Niemann Pick disease can result in nephrotic range proteinuria.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200486","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46385250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ajayi A. Ibijola , Abiodun I. Okunlola , Abiodun O. Awe
{"title":"Granulocytic sarcoma: Extramedullary manifestation of chronic myeloproliferative neoplasm in a young African woman","authors":"Ajayi A. Ibijola , Abiodun I. Okunlola , Abiodun O. Awe","doi":"10.1016/j.ehpc.2020.200462","DOIUrl":"10.1016/j.ehpc.2020.200462","url":null,"abstract":"<div><p>We present a rare case of multiple granulocytic sarcoma in a young African woman in blast phase of chronic myeloproliferative neoplasm. Fine needle aspiration cytology of the sarcoma, peripheral blood film and bone marrow aspiration cytology were consistent with chronic myeloid leukaemia in blast phase.</p></div><div><h3>Objective</h3><p>To present a rare case of multiple granulocytic sarcoma as extramedullary manifestation of chronic myeloproliferative neoplasm in the context of creating awareness about this rare unusual presentation.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200462","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44576221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Preethi Dileep Menon , Hamza Tariq , Cynthia Forker , Alia Nazarullah
{"title":"Diagnosis of uterine lymphoma on cervical pap smear: Case report and review of literature","authors":"Preethi Dileep Menon , Hamza Tariq , Cynthia Forker , Alia Nazarullah","doi":"10.1016/j.ehpc.2020.200466","DOIUrl":"10.1016/j.ehpc.2020.200466","url":null,"abstract":"<div><p>Hematolymphoid neoplasms rarely involve the cervix, with an overall incidence of less than 1% among all cervical malignancies. Clinical presentations include abnormal uterine bleeding, pelvic discomfort, dyspareunia, back pain and vaginal discharge. Cervical Papanicolaou Smear is an important screening tool for early detection of cervical epithelial lesions; however, a high index of suspicion is needed to recognize non-epithelial malignancies like lymphoma. We report the case of a 48-year-old woman who presented with abnormal vaginal bleeding. Pap smear showed large atypical discohesive cells with vesicular chromatin and prominent nucleoli. A cell block preparation with immunohistochemistry confirmed large B-cell lymphoma. This diagnosis is important due to management strategy differences of chemoradiation over surgery in hematologic malignancies. A review of literature of hematologic malignancies diagnosed on Pap smear is also reported.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200466","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47551259","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Giant placental chorangioma: The first case report in Indonesia","authors":"Emilia Theresia , Detty Siti Nurdiati , Irianiwati Widodo","doi":"10.1016/j.ehpc.2021.200472","DOIUrl":"10.1016/j.ehpc.2021.200472","url":null,"abstract":"<div><p>Giant placental chorangioma is a benign non-trophoblastic neoplasm which is rare but often results in serious prenatal complications and adverse pregnancy outcome. Here, we present the first case report of giant placental chorangioma in Indonesia with good clinical outcome, prenatally detected in a 35-year-old G4P2A1 female patient, who presented at 33 weeks of gestation with placenta previa, hemorrhage, anemia, and cardiomegaly. The color Doppler ultrasonography examination showed a large cystic hypoechoic circumscribed intraplacental mass in the parenchymal placenta. The elected caesarian section and mass removal was performed at 36 weeks of gestation. The microscopic appearance of the tumor showed a proliferation of capillary sized vessels with monomorphic endothelial cells. The tumor cells showed immunoreactivity for CD31, CD34, and smooth muscle actin (SMA). The Ki-67labeling index was 30%. Clinical, radiological, histopathological, and immunohistochemical profiles confirmed the diagnosis of giant placental chorangioma.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200472","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48828473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Karyne N. Rabey , Lalith Satkunam , Christine A. Webber , Jennifer C. Hocking
{"title":"Isolated fatty infiltration of the gastrocnemius medial head, a cadaveric case study","authors":"Karyne N. Rabey , Lalith Satkunam , Christine A. Webber , Jennifer C. Hocking","doi":"10.1016/j.ehpc.2021.200480","DOIUrl":"10.1016/j.ehpc.2021.200480","url":null,"abstract":"<div><p>Gastrocnemius is a superficial calf muscle with two muscular heads that contribute fibres to the Achilles tendon. While gastrocnemius functions during movement of the knee and ankle joints, the muscle is of particular clinical interest as a target for treatments to alleviate lower limb spasticity and pain. Here, we describe abnormal calf musculature discovered incidentally during cadaveric dissection in an anatomy teaching laboratory. In particular, the medial head of the gastrocnemius in the left leg exhibited almost complete replacement by adipose tissue, while the lateral head and soleus muscles were unaffected. On the right side, the medial head again showed fatty infiltration, but only in the distal part of an otherwise substantial muscle belly. While the nerve to the left medial head was intact, a cyst was discovered in the sacral vertebral column. The full, but isolated replacement of a muscle belly by fat is a highly unusual finding. Potentially, muscle degeneration followed by fatty infiltration was secondary to compression of the S1, S2 nerve roots and denervation of the muscle, but other possible causes are reviewed in the discussion.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200480","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42306040","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Unusual variant of invasive ductal carcinoma suggesting metaplastic melanocytic differentiation","authors":"Chen Mayer , Maya Zilker , Nora Balint-Lahat , Rony Weitzen , Aviv Barzilai , Iris Barshack , Jonathan Weidenfeld","doi":"10.1016/j.ehpc.2021.200482","DOIUrl":"10.1016/j.ehpc.2021.200482","url":null,"abstract":"<div><h3>Background</h3><p>Metaplastic carcinoma of the breast is a general definition referring to a heterogeneous group of neoplasms characterized by a mixture of adenocarcinoma with areas of spindled, squamous or mesenchymal differentiation. Metaplastic breast carcinoma comprising of both epithelial and melanocytic elements is rare, with just nine cases reported in medical literature so far. “metaplastic breast carcinoma with melanocytic differentiation” does not exist as a separate entity on the WHO classification.</p></div><div><h3>Case description</h3><p>Patient reported is a woman diagnosed with having invasive ductal carcinoma in 1997, with new skin lesions appearing in 2009 and 2019. These lesions were biopsied and reviewed for histopathology. On microscopic examination, we observed skin involved by a malignant tumor, showing clusters of atypical cells with solid architecture and focal duct differentiation. Immunohistochemistry revealed tumor cells were positive for breast and melanocytic markers. Given the patient’s clinical history, the possibility of metaplastic breast carcinoma with focal melanocytic differentiation was suggested.</p></div><div><h3>Discussion</h3><p>In our case report, we were able to show dermal breast lesions from the same patient during a 10-year span, showing change and evolution of the lesion to its current form. Recurrent biopsies of similar malignant lesions showing evolution have been described scarcely in the medical literature. From immune-histochemical stains performed on blocks obtained from 2009, we were able to show the development of melanocytic markers over time in similar samples resected ten years apart.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46402110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A case of perivascular epithelioid nodules arising in an intramural leiomyoma","authors":"Yoldez Houcine , Karima Mekni , Emna Brahem , Mouna Mlika , Aida Ayadi , Chiraz Fekih , Imene Ridene , Faouzi El Mezni","doi":"10.1016/j.ehpc.2020.200470","DOIUrl":"10.1016/j.ehpc.2020.200470","url":null,"abstract":"<div><p>Perivascular epithelioid cell (PEC) tumors (PEComas) are a family of related mesenchymal tumors composed of PECs that co-express melanocytic and smooth muscle markers. Their diagnosis is challenging in the female genital organs owing to its morphologic and immunohistochemical overlap with smooth muscle tumors and other clear cell tumors. We report the clinicopathologic and immunohistochemical characteristics. We also discuss differential diagnoses of an unusual tumor of the uterus composed of nodules of epithelioid cells strongly positive for HMB45, arising in a surrounding leiomyoma. We viewed these neoplasms as PEComa. The follow up has shown that the patient was alive without disease 1 year after the surgery.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200470","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44417155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"CD34 and CD79a immunopositivity in megakaryocytes","authors":"Pavithra Ayyanar , Rakhee Kar , Biswajit Dubashi , Debdatta Basu","doi":"10.1016/j.ehpc.2020.200467","DOIUrl":"10.1016/j.ehpc.2020.200467","url":null,"abstract":"<div><p>CD34 and CD79a are markers of hematopoietic stem cell and B-lymphoid cells, respectively. The abnormal expression of these markers in megakaryocytes has been noticed in cases of myelodysplastic syndrome, inherited platelet disorders, and reactive erythrocytosis. As a routine practice, while studying post-induction chemotherapy marrows in acute leukemia, immunomarkers, positive in the initial diagnostic workup, were performed to look for the residual blasts. Interestingly, we noticed CD34 immunopositive megakaryocytes in four such cases. CD79a positive megakaryocytes were also seen in five other cases of post-induction acute lymphoblastic leukemia. All these megakaryocytes, which were regenerating and in clusters, showed both topographic and cytological features of dysmegakaryopoiesis. CD 34 and CD79a, which are often used to monitor residual disease in the post-chemotherapy bone marrow, show aberrant positivity in the megakaryocytes. This novel finding of regenerating megakaryocytes may be used as a feature of dysmegakaryopoiesis in megakaryocytes.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200467","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42431910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
XiaoBo Zhao , XinLou Li , Xin Huang , Le Shang , JianZhong Zhang , JiHua Wu
{"title":"Gastric plexiform fibromyxoma resected by endoscopic submucosal dissection: A case report and review of literature","authors":"XiaoBo Zhao , XinLou Li , Xin Huang , Le Shang , JianZhong Zhang , JiHua Wu","doi":"10.1016/j.ehpc.2020.200468","DOIUrl":"10.1016/j.ehpc.2020.200468","url":null,"abstract":"<div><p>Plexiform fibromyxoma (PF), known as plexiform angiomyxoid myofibroblastic tumor firstly, is derived from gastrointestinal mesenchyme cells, being officially adopted as a distinct benign entity in the 2010 WHO Classification of Tumors of the Digestive System. We report a plexiform fibromyxoma case of a 32-year-old Chinese man who presented with slight intermittent acid regurgitation and abdominal discomfort. Endoscopy and imaging studies revealed a muscularis mucosa mass in the gastric antrum with initial suspicion of a GIST. Microscopically, spindle or oval tumor cells arrange in a nodular plexiform pattern, rich and small-sized vasculature and abundant myxoid matrix. Although it has a classical histological feature of PF, immunohistochemically it was negative for fibroblastic or myofibroblastic differentiation marker; endoscopic submucosal dissection (ESD) was performed as diagnostic therapy. Follow-up evaluation was uneventful for 8 months. To summarize the experience of conservative surgical treatment of plexiform fibromyxoma, we reviewed ESD or laparoscopic endoscopic cooperative surgery (LECS) treatment of plexiform fibromyxoma cases in the literature, and no complications and recurrence were reported after treatment. ESD is an candidate choice for plexiform fibromyxoma.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2020.200468","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47768770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Metastatic pulmonary tumor from type 3 gastric neuroendocrine tumor","authors":"Shuta Ohara , Atsushi Yasuda , Shigeki Shimizu , Kenichi Suda , Tetsuya Mitsudomi","doi":"10.1016/j.ehpc.2021.200481","DOIUrl":"10.1016/j.ehpc.2021.200481","url":null,"abstract":"<div><p>Type 3 NETs are reported to metastasize to other organs or lymph nodes; however, there are few reports of gastric NETs causing isolated pulmonary metastasis. We report a rare case of primary gastric neuroendocrine tumors (NETs) with lung metastasis. The patient presented with multiple gastric submucosal tumors (SMTs) and a solid nodule in the S1 + 2 of the left lung. Endoscopic mucosal resection of the stomach and a left upper lobectomy of the lung were successfully performed. The histopathological findings of the gastric SMTs and lung tumor revealed type 3 gastric NETs and a metastatic pulmonary tumor, although TTF-1 is positive in the stomach and the lung. In this time, we reported a rare case of a metastatic pulmonary tumor from gastric type 3 NETs. In addition, we also realized the limitations of immunohistochemistry in identifying the site of origin for NETs and the need to rely on morphologic and clinical features.</p></div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200481","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43563540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}