Diagnostic dilemma of mesonephric adenocarcinoma cervix

Introduction: Mesonephric carcinoma is a rare type of epithelial tumor of the uterine cervix which derive from the remnants of the paired mesonephric (Wolff’s) ducts. The incidence of such neoplasms is difficult to determine due to rarity, previous misclassification of clear cell carcinomas and yolk sac tumours as mesonephric carcinomas and potential underreporting due to misclassification of mesonephric carcinoma as Mullerian tumours or mesonephric hyperplasia. The evidence regarding the clinical course, prognosis and optimal treatment is limited. Materials and Methods: Searches were performed on MEDLINE, EMBASE and Google Scholarly articles. All the relevant articles were included in the study. Only approximate 40 cases have been reported till now. Discussion: Mesonephric adenocarcinoma cervix has different morphologies like ductal, tubular, solid, retiform, sex-cord like pattern, clear cell and serous papillary structures. IHC assessment is helpful in differentiating it from Mullerian counterpart, as it is negative for CEA, CK20, p16, PAX2, ER/PR and vimentin and positive for CD10, calretinin, CK7, CAM5.2 and EMA. It has no relation with HPV infection. Unlike squamous epithelial carcinoma, it is rarely presenting with the abnormal cervical smear result, has more advanced age at presentation and its incidence does not appear to decline with age. The diagnosis has been supported by endometrial curettings, directed/cone cervical biopsies and hysterectomy specimens. The majority of patients are diagnosed at stage IB with mean DFS of 48.6 months. Recurrence rate is 23%, with a mean interval of 40 months. Hysterectomy is the primary treatment. Advanced stage disease of adenocarcinoma seemed to respond to radiotherapy, but for the MMMTs the combination of chemotherapy with radiotherapy appears to be preferable. Conclusion: Rarity of the neoplasm, varied morphology, mix presentation and very low number of cases leads to difficulty in correct diagnosis in a small biopsy specimen. IHC helpful in differentiating it from other lesions.

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Clear cell chondrosarcoma of proximal femur: a rare entity with diagnostic dilemma

BMJ Case Reports ◽

10.1136/bcr-2020-236389 ◽

2020 ◽

Vol 13 (10) ◽

pp. e236389

Author(s):

Manish Pruthi ◽

Jagandeep Singh Virk ◽

Anila Sharma ◽

Vivek Mahawar

Keyword(s):

Femoral Head ◽

Clear Cell ◽

Correct Diagnosis ◽

Malignant Neoplasm ◽

Diagnostic Dilemma ◽

Clear Cell Chondrosarcoma ◽

High Local Recurrence Rate ◽

Appropriate Treatment ◽

Slow Growing

Clear cell chondrosarcoma is an extremely rare malignant neoplasm. The rarity and slow-growing nature of this tumour often lead to prolonged symptoms and also initial misdiagnosis with benign lesions such as chondroblastoma. It can also be confused with avascular necrosis of the femoral head when the lesion is located in the femoral head, as was in the case we report. The patient was kept on observation and conservative treatment for almost 9 years before the correct diagnosis and appropriate treatment. Wide local resection with negative margins forms the mainstay of treatment since intralesional procedures predispose to high local recurrence rate. A prolonged follow-up is recommended since late local recurrences and metastases are common.

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Intergluteal Cleft Eccrine Porocarcinoma with Metastasis to Inguinal Region and Lung: Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000510311 ◽

2020 ◽

Vol 13 (3) ◽

pp. 1463-1473

Author(s):

Ricardo Fernández-Ferreira ◽

Gabriela Alvarado-Luna ◽

Daniel Motola-Kuba ◽

Ileana Mackinney-Novelo ◽

Eduardo Emir Cervera-Ceballos ◽

...

Keyword(s):

Medical Literature ◽

Primary Treatment ◽

Skin Tumor ◽

Inguinal Region ◽

Pertinent Literature ◽

Rare Type ◽

Localized Disease ◽

Histological Confirmation ◽

Eccrine Porocarcinoma ◽

Left Inguinal Region

Eccrine porocarcinoma (EPC) is an infrequent cutaneous neoplasm, and was described in 1963 by Pinkus and Mehregan. It is a rare type of skin tumor (0.005–0.01% of all skin tumors). Less than 300 cases have been described in the entire world medical literature. To our knowledge, no case of intergluteal cleft EPC has been reported in the literature in English and Spanish to date, so this would be the first reported case of such pathology. Metastatic EPC is less frequent, since only <10% of metastatic type have been reported and the rest as localized disease. The primary treatment of choice is surgical wide local excision of the tumor with histological confirmation of tumor-free margins. Prognosis is difficult to determine because of the rarity of EPC and the variations in natural history. There are no data to support the use of adjuvant chemotherapy or radiotherapy, and there are currently no agreed criteria to define patients at high risk of relapse. We present a 67-year-old man with intergluteal cleft eccrine tumor by biopsy. Metastasis to left inguinal region and lung was reported by contrasted abdominal and chest computed tomography. He started chemotherapy based on etoposide, vincristine, carboplatin. A review of pertinent literature is provided.

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Large-extension osteosarcoma with involvement of multiple maxillofacial structures: a rare case report

Research Society and Development ◽

10.33448/rsd-v9i10.8461 ◽

2020 ◽

Vol 9 (10) ◽

pp. e1519108461

Author(s):

Rani Iani Costa Gonçalo ◽

Cristiane Kalinne Santos Medeiros ◽

Humberto Pereira Chaves Neto ◽

Janaina Lessa de Moraes dos Santos ◽

Adriano Rocha Germano ◽

...

Keyword(s):

Rare Case ◽

Correct Diagnosis ◽

Malignant Neoplasm ◽

Neck Region ◽

Primary Treatment ◽

Histopathological Diagnosis ◽

Anatomical Structures ◽

Case Presentation ◽

Head And Neck Region ◽

Rare Case Report

Background: Osteosarcoma is a malignant neoplasm that occurs most often in long bones, with the head and neck region being rarely affected, accounting for less than 1% of all cancers in this region. Objective: To report a rare case of a large-extension osteosarcoma with emphasis on its clinical and diagnostic aspects. Case presentation: A 43-year-old woman presenting an intraoral exophytic lesion with involvement of other maxillofacial structures, such as nostril, zygoma and orbit. Despite the initial clinical diagnosis of actinomycosis, an incisional biopsy confirmed the histopathological diagnosis of osteosarcoma, showing a wide morphological variety. Conclusion: This case highlights the importance of clinical and histopathological findings for the correct diagnosis of osteosarcoma. Moreover, it shows that, although surgical resection is the primary treatment for this neoplasia, depending on the extent of the tumor and its proximity to vital anatomical structures, the most appropriate conduct is not always feasible.

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Importance of Laparoscopy to Solve the Diagnostic Dilemma of Abdominal Tuberculosis

KYAMC Journal ◽

10.3329/kyamcj.v12i1.53361 ◽

2021 ◽

Vol 12 (1) ◽

pp. 14-17

Author(s):

Md Saiful Islam ◽

Md Masudar Rahman ◽

M Fardil Hossain Faisal ◽

Md Alamgir Jalil Pramanik ◽

Muhammad Abdur Rouf

Keyword(s):

Minimally Invasive ◽

Diagnostic Laparoscopy ◽

Abdominal Cavity ◽

Correct Diagnosis ◽

Abdominal Tuberculosis ◽

Diagnostic Dilemma ◽

Peritoneal Tissue ◽

Appropriate Treatment ◽

Liver Surface ◽

Minimally Invasive Access

Background: Diagnosis of abdominal tuberculosis as well as histopathological confirmation is difficult because of suboptimal access to the intraperitoneal pathology. Laparoscopy provides minimally invasive access to the peritoneal cavity and materials can be collected for confirmation of diagnosis. Objectives: To study the importance of laparoscopy as a tool for the diagnosis of abdominal tuberculosis and initiation of appropriate treatment without delay. Materials & Methods: In this study 25 patients with suspected abdominal tuberculosis were selected within the period of May, 2014 to October, 2014. Diagnostic laparoscopy performed on all patients with biopsy of tissue from accessible sites. Results: Diagnostic laparoscopy with biopsy confirmed the diagnosis in 24 (96%) patients, 23 of these patients (96%) had nodules at different site of abdominal cavity and 19 of these patients (76%) had ascites. In two cases there were nodules over liver surface; biopsy was taken also from both liver nodules. One nodule revealed fibrosis and another nodule revealed tuberculosis. Conclusion: Imaging and culture of ascitic fluid may fail to confirm or exclude abdominal tuberculosis in clinically suspected cases. Laparoscopy with peritoneal tissue biopsy provided rapid and correct diagnosis of abdominal tuberculosis and should be performed early in suspected cases. KYAMC Journal.2021;12(01): 14-17

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Adenomatoid Hyperplasia of The Oral Cavity: A Diagnostic Dilemma

European Annals of Dental Sciences ◽

10.52037/eads.2021.0007 ◽

2021 ◽

Author(s):

Ali ALTINDAĞ ◽

Poyzan Bozkurt ◽

Burak Bilecenoğlu ◽

Kaan Orhan

Keyword(s):

Oral Cavity ◽

Correct Diagnosis ◽

Age Distribution ◽

Salivary Gland Tumor ◽

Histological Evaluation ◽

Gland Tumor ◽

Diagnostic Dilemma ◽

Location Data ◽

Wide Range ◽

Review Study

This review study presents literature review and discusses the clinical significance of Adenomatoid Hyperplasia, a commonly misdiagnosed lesion. This rare entity has been seldom presented and is not well enough described in the literature. Only 15 reports with 95 cases could be attained during the online literature search using the keywords: Adenomatoid, Tumor, Hyperplasia, Minor salivary Glands. Data revealed a tendency towards the male gender. Age distribution of patients did not reveal a tendency towards a specific age group but presented a peak incidence in the 4th and 5th decades. Location data revealed a tendency towards the palate, especially the hard palate. Most of the presented cases were asymptomatic and the most common initial diagnosis made was salivary gland tumor. It was concluded that, adenomatoid hyperplasia of the oral cavity may resemble a wide range of pathologies and in order to differentiate and to achieve a correct diagnosis, histological evaluation is fundamental.

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Rhabdomyosarcoma in Ovary- Pathologist’s Diagnostic Dilemma

American Journal of Clinical Pathology ◽

10.1093/ajcp/aqab191.173 ◽

2021 ◽

Vol 156 (Supplement_1) ◽

pp. S82-S82

Author(s):

A C Srivastava ◽

F Hussain ◽

T Patel

Keyword(s):

Soft Tissue ◽

Ovarian Tumor ◽

Ca 125 ◽

Axillary Lymph ◽

Ovarian Mass ◽

Diagnostic Challenge ◽

Diagnostic Dilemma ◽

Epithelial Tumor ◽

True Nature ◽

Right Hand

Abstract Introduction/Objective Rhabdomyosarcoma is the most common pediatric soft tissue sarcoma. However, rhabdomyosarcoma in the ovary is exceptionally unusual and presents a diagnostic challenge. We report one such case and its clinical and pathological perspective. Methods/Case Report 16-year-old female presented with an enlarging pelvic mass, abdominal distension, and pain. Imaging revealed a heterogeneous left ovarian mass, right axillary lymphadenopathy, and right-hand soft tissue mass. CA-125 was 1833.0 U/ml. Patient underwent left salphingo-oophorectomy, omentectomy, peritoneal and mesenteric biopsy for ovarian staging, incidental appendectomy, and right axillary lymph node excision with suspicion of ovarian epithelial tumor. Pathological evaluation revealed a 16-cm intact ovary with multiple solid and cystic nodules with areas of hemorrhage and necrosis. Microscopic examination of ovarian tumor showed a high-grade malignant tumor consisting of sheets of small round blue cells with severe cytologic atypia, increased mitoses, and features suggestive of rhabdoid morphology. The other specimens were positive for metastases. The tumor cells were immunopositive for Myogenin and MyoD1 while immunonegative for Cytokeratin AE1/AE3, SF-1, PLAP, SALL4, MelanA, and S-100. INI-1 and BRG-1 demonstrated intact nuclear expression. FISH testing identified rearrangement of the FOX01 gene at 13q14. Based on these findings, diagnosis of alveolar rhabdomyosarcoma was rendered. Currently, the patient is receiving rhabdomyosarcoma chemotherapy treatment and has responded well. Results (if a Case Study enter NA) NA Conclusion In cases with complex and urgent clinical presentation, where the existence of a primary tumor is unknown and where symptoms attributable to primary ovarian tumor dominate the clinical picture, rhabdomyosarcoma is rarely proposed in the differential diagnoses of small round blue cell tumors of the ovary. At present, the right-hand mass is under evaluation; thus, the true nature of the ovarian mass, primary or metastatic is unknown. Our case illustrates the importance of exact diagnoses, as treatment of rhabdomyosarcoma, is different from other ovarian tumors.

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Prediction of High-Grade Clear Cell Renal Cell Carcinoma Based on Plasma mRNA Profiles in Patients with Localized Pathologic T1N0M0 Stage Disease

Cancers ◽

10.3390/cancers12051182 ◽

2020 ◽

Vol 12 (5) ◽

pp. 1182

Author(s):

Jee Soo Park ◽

Hyo Jung Lee ◽

Ahmad Almujalhem ◽

Hatem Hamed Althubiany ◽

Alqahatani Ali A ◽

...

Keyword(s):

Renal Cell ◽

Prediction Models ◽

Clear Cell ◽

Multivariate Logistic Regression Analysis ◽

Mrna Levels ◽

High Grade ◽

Cell Renal Cell Carcinoma ◽

Fuhrman Grade ◽

Stage Disease ◽

Tumor Tissues

A high nuclear grade is crucial to predicting tumor recurrence and metastasis in clear cell renal cell carcinomas (ccRCCs). We aimed to compare the mRNA profiles of tumor tissues and preoperative plasma in patients with localized T1 stage ccRCCs, and to evaluate the potential of the plasma mRNA profile for predicting high-grade ccRCCs. Data from a prospective cohort (n = 140) were collected between November 2018 and November 2019. Frozen tumor tissues and plasma were used to measure PBRM1, BAP1, SET domain-containing 2 (SETD2), KDM5C, FOXC2, CLIP4, AQP1, DDX11, BAIAP2L1, and TMEM38B mRNA levels, and correlation with the Fuhrman grade was investigated. Multivariate logistic regression analysis revealed significant association between high-grade ccRCC and SETD2 and DDX11 mRNA levels in tissues (odds ratio (β) = 0.021, 95% confidence interval (CI): 0.001–0.466, p = 0.014; β = 6.116, 95% CI: 1.729–21.631, p = 0.005, respectively) and plasma (β = 0.028, 95% CI 0.007–0.119, p < 0.001; β = 1.496, 95% CI: 1.187–1.885, p = 0.001, respectively). High-grade ccRCC prediction models revealed areas under the curve of 0.997 and 0.971 and diagnostic accuracies of 97.86% and 92.86% for the frozen tissue and plasma, respectively. SETD2 and DDX11 mRNA can serve as non-invasive plasma biomarkers for predicting high-grade ccRCCs. Studies with long follow-ups are needed to validate the prognostic value of these biomarkers in ccRCCs.

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Genital Ulcer Disease: How Worrisome Is It Today? A Status Report from New Delhi, India

Journal of Sexually Transmitted Diseases ◽

10.1155/2013/203636 ◽

2013 ◽

Vol 2013 ◽

pp. 1-8 ◽

Cited By ~ 1

Author(s):

Sumathi Muralidhar ◽

Richa Talwar ◽

Deepa Anil Kumar ◽

Joginder Kumar ◽

Manju Bala ◽

...

Keyword(s):

Sexual Experience ◽

Correct Diagnosis ◽

Dark Field ◽

Control Measures ◽

Genital Ulcer ◽

Diagnostic Tools ◽

Status Report ◽

Diagnostic Dilemma ◽

Serological Tests ◽

Genital Ulcers

Background and Objectives. Genital ulcer diseases represent a diagnostic dilemma, especially in India, where few STI clinics have access to reliable laboratory facility. The changing STI trends require that a correct diagnosis be made in order to institute appropriate treatment and formulate control policies. The objective of this study was to determine recent trends in aetiology of genital ulcers, by using accurate diagnostic tools. Methods. Specimens from 90 ulcer patients were processed for dark field microscopy, stained smears, culture for H. ducreyi, and real-time PCR. Blood samples were collected for serological tests. Results. Prevalence of GUD was 7.45 with mean age at initial sexual experience as 19.2 years. Use of condom with regular and nonregular partners was 19.5% and 42.1%, respectively. Sexual orientation was heterosexual (92.2%) or homosexual (2.2%). There were 8 cases positive for HIV (8.9%). Herpes simplex virus ulcers were the commonest, followed by syphilis and chancroid. There were no cases of donovanosis and LGV. Conclusions. A valuable contribution of this study was in validating clinical and syndromic diagnoses of genital ulcers with an accurate aetiological diagnosis. Such reliable data will aid treatment and better define control measures of common agents and help eliminate diseases amenable to elimination, like donovanosis.

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Clear Cell Chondrosarcoma in Association With Niemann-Pick Disease

Sarcoma ◽

10.1080/13577140500090030 ◽

2005 ◽

Vol 9 (1-2) ◽

pp. 33-36 ◽

Cited By ~ 5

Author(s):

K. N. Srikanth ◽

A. Kulkarni ◽

A. M. Davies ◽

V. P. Sumathi ◽

R. J. Grimer

Keyword(s):

World Literature ◽

Clear Cell ◽

Type B ◽

Chromosome 11 ◽

Rare Type ◽

Clear Cell Chondrosarcoma ◽

Niemann Pick Disease ◽

The World ◽

Niemann Pick ◽

Pick Disease

Purpose:The purpose of this case report is to bring to light this unusual combination of two rare diseases, namely Neimann-Pick disease Type B and clear cell chondrosarcoma occurring in the same patient. This has not previously been reported in the world literature.Subject:Niemann-Pick disease (NPD) is a rare autosomal recessive inborn error of metabolism. Type B NPD is even rarer. It is a lysosomal storage disorder affecting children and adolescents often causing death in early childhood, although in milder form patients may survive up to adulthood, like our patient. Clear cell chondrosarcoma is a very rare type of chondrosarcoma affecting the epiphyseo-metaphyseal region of long bones. We present a patient suffering from a milder form of Neimann Pick disease who developed a clear cell chondrosarcoma. We investigated to find if there was likely to be any relationship between these two events.Results:NPD type B is caused by a three-base deletion in chromosome 11. Chondrosarcoma and multiple exostoses occur due to loss of tumour suppressor gene EXT 2 from centromeric region on chromosome 11, though it is difficult to establish the link between the two, as the two together have not yet been reported in the literature. NPD may present diagnostic difficulties when it occurs with chondrosarcoma.Discussion:We conclude that the two diseases have not been reported together in the world literature and there is some evidence to show that chromosome 11 is central to both diseases. More research is needed to see if one leads to the other.

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