Compound Heterogeneous Sickle Cell-B+ Thalassemia Incidentally Discovered Through Cytological Examination of a Fine-Needle Aspiration Specimen from an Aneurysmal Bone Cyst in a Young Child: A Case Report.

Sickle cell beta-thalassemia (S/ß) is a rare inherited variant of sickling disorders, usually occurring due to the inheritance of two abnormal genes, namely, the sickle cell gene, and the beta-thalassemia gene. There are two types of sickle cell ß-thalassemia: (S/ß+) and (S/ß0), based on a decrease or complete absence of beta-globin synthesis, respectively. Skeletal complications, such as osteonecrosis, osteomyelitis, and septic arthritis, are well-known sequelae in sickle cell patients due to vaso-occlusive events. Nevertheless, the occurrence of aneurysmal bone cysts in patients with sickle cell hemoglobinopathy is an exceptional phenomenon. Herein, we report a case of a young boy who presented with nonspecific clinical symptoms over a few years. The patient was referred to our institution as a case of short stature with recurrent joint pain. A clinical workup was done and an aneurysmal bone cyst (ABC) of the left humerus was discovered radiologically with incidental detection of sickle cells through cytological evaluation of the cyst fluid. Further clinical investigation, including molecular and additional laboratory tests, confirmed the diagnosis of compound heterogeneous sickle cell-B+ thalassemia. Unfortunately, neither was the underlying pathology detected nor was the precise clinical diagnosis attained at the outside primary healthcare facility.

Para-testicular florid cystic müllerianosis in an elderly patient: Case report of a rare metaplastic change of tunica vaginalis with unusual clinical presentation (mass forming lesion).

Müllerian metaplasia/florid cystic Müllerianosis of the tunica vaginalis is one of the metaplastic changes described in the testis. Others include urothelial metaplasia, epidermoid metaplasia, and gastric metaplasia. Florid cystic Müllerianosis shares similar histo-morphological features and immunohistochemical profile with female counterpart endosalpingiosis. Herein, we report a case of para-testicular florid cystic Müllerianosis presented as a painless testicular mass in a 66-year-old male with normal tumor markers.

Rare Development of Primary Parotid Gland Epithelial-Myoepithelial Carcinoma in a Child.

Salivary gland tumors are uncommon in children. They consist of variable histopathological subtypes of benign and malignant tumors. EMC is a discrete entity among the WHO classification of salivary gland tumors since 1991. EMC is considered a low-grade malignant salivary gland tumor arising from intercalated ducts. Typically, it affects an adult female individual. Surgical resection with a negative margin is the mainstay treatment option. EMC has a potential for metastasis with a high rate of recurrence. Based on the available English literature, two cases of EMC diagnosed in a pediatric age group have been reported. Therefore, we describe the third EMC that developed in the left parotid gland of a young child. The diagnosis of EMC was established through histopathological examination of the total parotidectomy specimen and neck lymph node dissection, together with ancillary studies. Later, the patient suffered from cervical lymph node enlargement due to metastasis in which FNAB was taken. Metastasis from the known EMC was suspected with cytomorphological features in smears and cell block. Immunohistochemistry markers for the biphasic components were supportive of EMC. Due to advanced disease, the patient necessitated a concomitant treatment of radiochemotherapy. Besides, there was radiological evidence of bilateral multiple lung metastatic nodules. However, a biopsy was not sent for pathological confirmation.

Desmoplastic Small Round Cell Tumor of Pancreatic Origin in a Young Child: A Case Report and Review of Literature.

BACKGROUND Desmoplastic small round cell tumor (DSRCT) is a rare lethal malignant tumor with young male predominance. The majority of cases arise in the abdominopelvic region and are hypothesized to have a mesothelial origin. However, extra-abdominal and extraperitoneal DSRCT have been reported. It is extremely uncommon for the pancreas to be a primary site for DSRCT, and only 5 cases have previously been reported in the English literature. Clinically, DSRCT has a wide range of presentations from asymptomatic to life-threatening comorbidity, and it responds poorly to treatment despite aggressive therapy. CASE REPORT We report a previously healthy 9-year-old boy with an incidentally discovered abdominal mass of pancreatic origin. All necessary laboratory investigations were within normal limits. Computed tomographic imaging showed a huge left-side retroperitoneal mass measuring 15 cm in the greatest dimension that was accompanied by vascular encasement. The mass was resected successfully. Histopathological examination along with ancillary tests favored a diagnosis of DSRCT over other small round blue cell tumors. Detection of translocation t(11;22)(p13;q12) with EWSR1-WT1 gene fusion, based on reverse transcription-polymerase chain reaction analysis, confirmed the diagnosis. Approximately 7 months later, the tumor recurred with mesenteric lymph nodes metastasis and the child was placed on palliative therapy. CONCLUSIONS It is worthwhile to consider DSRCT in the differential diagnosis of small round blue cell tumors, even in unusual sites, in a pediatric age group. Due to the poor prognosis, owing to chemotherapy resistance and a high rate of recurrence with significant tumor burden, reaching a precise diagnosis of DSRCT is essential. Almost all cases harbor the hallmark molecular alteration of t(11;22)(p13;q12) with EWSR1-WT1 gene fusion. Debulking surgery paired with a chemotherapy regimen comprising vincristine, doxorubicin, and cyclophosphamide and ifosfamide + etoposide has been shown to improve overall survival rate compared with other chemotherapeutic agents. However, no targeted therapeutic modality has been developed.

A Rare Concomitant Oncocytic Adrenocortical Neoplasm and Hepatocellular Carcinoma over a Four-year Duration: A Case Report and Review of Literature.

Oncocytic adrenocortical neoplasms (OANs) are very rare. Although most cases have benign behavior, the risk of recurrence/metastasis is variable. Based on Lin-Weiss-Bisceglia (LWB) system criteria, OANs can be classified as benign, borderline, or malignant. A concomitant development of OANs with second primary neoplasm is extremely uncommon, and is limited to very few case reports. None of these reported cases was found to be associated with hepatocellular carcinoma (HCC). In this case report, we present a 64-year-old female patient who had a progressively increasing left supra-renal mass over a three-year interval. During her regular imaging-based follow up after successful left adrenalectomy, a new suspicious solitary, hypodense liver mass was detected and removed. All necessary work-up was done and strongly support the diagnosis of two distinct primary tumors including borderline malignant potential OAN and subsequent HCC. A significant clinical and morphological characteristic of OANs make its identification valuable.

Gestational Trophoblastic Disease Presents as an Ectopic Tubal Pregnancy, a Rare Entity.

Ectopic molar pregnancy is an uncommon event in clinical practice. In this paper, we report a case of ectopic complete molar pregnancy in a 39-year-old lady who presented to the emergency department with lower abdominal pain, abdominal distention, and low-grade fever. Based on radiological and laboratory investigations, the differential diagnosis included ruptured ectopic pregnancy versus metastatic diseases. Ectopic hydatidiform molar pregnancies can occur at any extrauterine pelvic sites, yet more frequently affecting fallopian tubes. The histopathological examination remains the gold standard for the diagnosis.