Manifestation Of Acute Myeloid Leukemia Research Articles

Unilateral Proptosis as the Initial Manifestation of Acute Myeloid Leukemia in a Young Adult

Unilateral Proptosis as the Initial Manifestation of Acute Myeloid Leukemia in a Young Adult

Breast relapse of myeloid sarcoma and SARS-CoV-2 infection following hematopoietic stem cell transplantation in mixed-phenotype acute leukemia: a case report

Abstract Background Mixed-phenotype acute leukemia is a rare, high-risk subtype of acute leukemia. Myeloid sarcoma is a localized tumor formed by the proliferation and infiltration of primitive or immature myeloid cells outside the bone marrow. It is often an extramedullary manifestation of acute myeloid leukemia, and imaging lacks specificity, leading to potential misdiagnosis. Case Presentation A female patient diagnosed with mixed-phenotype acute leukemia achieved complete remission after chemotherapy and allogeneic hematopoietic stem cell transplantation. However, a relapse occurred in the breast after transplantation. The patient achieved local control through mastectomy and removal of the axillary lymph nodes on the affected side. Unfortunately, during the subsequent course of chemotherapy, the patient died of a severe pulmonary infection caused by coronavirus disease 2019. Conclusion Continuous treatment and monitoring of mixed-phenotype acute leukemia patients are essential, especially for those with extramedullary manifestations (such as breast involvement).

Meta-analysis of mutational site-specificity and concordance/discordance characteristics of myeloid sarcoma.

6583 Background: Myeloid sarcoma (MS) is an atypical, extramedullary manifestation of acute myeloid leukemia. Next-generation sequencing (NGS) studies have explored mutational profiles of MS tumor sites and bone marrow (BM) samples. However, site-specific molecular patterns and mutational concordance/discordance between MS sites and BM remain unclear. Methods: Relevant studies about MS retrieved from a Pubmed search (1999-2023) with information about MS site involvement and NGS data were included. With R software, a meta-analysis (MA) of descriptive data, MS tumor site, mutations, and mutational concordance/discordance was performed to obtain pooled prevalence estimates using the Freeman-Tukey double arcsine transformation, inverse variance, and random effects model. MA of median age was pooled using the methods of McGrath et al. (2023). Meta-regression (MR) was performed with mixed-effects model. Chi-square test was used for statistical analysis of categorical variables. Results: 87 patients with MS from 10 studies were identified. Median age was 53 years (95% confidence interval [CI]: 48-56), and MS was more common in males (pooled estimate of 67%, 95% CI: 54.8-78.5). Skin was the most common site involved in MS with random effects pooled estimate of prevalence of 39.4% (95% CI: 20.8-59.3), followed by lymph node (10.1%, 95% CI: 1.8-21.8), bone (5%, 95% CI: 0.2-13.3), and soft tissue (2.4%, 95% CI: 0-9.5). Pooled estimates of most common mutated genes were NPM1 (20.3%, 95% CI: 6.2-38), FLT3 (18.3%, 95% CI: 5.5-34.6), TP53 (8.4%, 95% CI: 1.8-17.7), NRAS(6.6%, 95% CI: 0.9-15.4), and IDH2 (4.3% 95% CI: 0-13.4). NPM1 (13/34), FLT3 (7/34), and IDH2 (6/28) were enriched in cutaneous MS. KIT was exclusively enriched in non-cutaneous MS (8/53) compared to cutaneous MS (0/34) (p = 0.017). Although the prevalence of small bowel MS was low (n = 3), FLT3 was mutated in all cases (p < 0.01). Comparing MS tumor site to BM, pooled prevalence of mutation concordance was similar to discordance (49.8% [95% CI: 34.4-65.1] and 50.2% [95% CI: 34.9-65.6], respectively). Most common concordant mutations were FLT3 (5/28) and NRAS (5/28). NPM1 and FLT3 were most common discordant mutations and enriched in MS tumor sites (p < 0.01 and p < 0.05, respectively). NPM1 was a discordant mutation in MS tumor site only. Univariate MR of cutaneous MS found no significant influence from male sex and mutational concordance/discordance. Multivariate MR showed significant interaction with males and mutational discordance toward cutaneous MS (p < 0.01). Conclusions: Our meta-analysis highlights potential site-specific and mutational disparities in MS. Knowledge about such differences may allow the use of targeted therapies against different molecular aberrations, emphasizing the need to sequence both BM and MS sites. Findings suggesting interaction of male sex and mutational discordance in cutaneous MS needs further validation.

Myeloid Sarcoma of the Colon Initially Presenting as a Paracolic Abscess in a Patient with Relapsed Acute Myeloid Leukemia.

Myeloid sarcoma, a rare extramedullary manifestation of acute myeloid leukemia (AML), can occur in various anatomic sites but seldom involves the gastrointestinal tract. We report the unusual case of a 49-year-old man with a history of AML who initially presented with abdominal pain and imaging findings suggestive of a paracolic abscess. However, the lesion rapidly progressed to a large descending colon mass with peritoneal involvement over five weeks. Surgical resection and histopathological examination confirmed a diagnosis of myeloid sarcoma. This case highlights the potential of myeloid sarcoma to mimic an inflammatory colonic process at initial presentation prior to manifesting as an overt mass lesion. Although exceedingly rare, myeloid sarcoma should be considered in patients with a history of AML presenting with colon lesions, particularly in those with an aggressive clinical course. Early recognition may expedite appropriate treatment and prevent unnecessary procedures. This report also underscores the importance of correlating imaging findings with clinical history and histopathology findings to establish an accurate diagnosis.

Paraneoplastic Eczematous Dermatitis With Palmoplantar Keratoderma as an Initial Manifestation of Acute Myeloid Leukemia

Paraneoplastic Eczematous Dermatitis With Palmoplantar Keratoderma as an Initial Manifestation of Acute Myeloid Leukemia

An unusual testicular mass: myeloid sarcoma as a rare extramedullary manifestation of acute myeloid leukemia

BackgroundWe report an unusual testicular mass with small bowel and retroperitoneal lymph node deposit proven to be myeloid sarcoma after complete histopathological and hematological workup. Myeloid sarcoma (MS) usually involves lymph nodes and head and neck regions. Uncommon sites like testis and ovary are rarely involved and pose a diagnostic challenge. Extramedullary myeloid sarcoma is most commonly associated with hematological malignancies like acute myeloid leukemia and myelodysplastic syndromes. It can precede or co-occur with AML. Considering it as a differential diagnosis in atypical presentation of testicular tumor helps in early treatment.Case presentationWe present a case of TMS with small bowel and retroperitoneal deposits presenting initially as intussusception and a vague scrotal pain. The patient underwent unilateral left radical inguinal orchidectomy. Surgical pathology revealed myeloid sarcoma of the testicle. And later jejunojejunostomy was done for small bowel deposit causing obstruction with retroperitoneal lymph node biopsy taken which revealed granulocytic sarcoma deposit. He developed peripheral blood involvement 4 weeks postoperatively, and bone marrow biopsy showed acute myeloid leukemia.ConclusionsWith very short median survival period of 7.5 months, high index of suspicion is required where multifocal lesions are observed in various sites as in our case.

Ocular manifestations of acute myeloid leukemia during induction phase of chemotherapy: A case series

The aim of this series is to report diverse ocular features noted in patients during the induction phase in acute myeloid leukemia (AML). Three female patients undergoing induction therapy for AML reporting for various ocular complaints were examined. Detailed history, including the onset of AML and chemotherapy and any past ocular or systemic ailment, was taken. Best-corrected visual acuity, anterior segment, and posterior segment examinations were performed. Intraocular pressure was measured, and color vision was tested. Routine hematological, and biochemical investigations and imaging were done when required. Patients with abnormal parameters were referred to an oncologist for management. A varied spectrum of ocular manifestations was noted in these three female patients, including preseptal cellulitis, orbital cellulitis, and subhyaloid hemorrhages. Immediate treatment was given to patients with vision-threatening conditions in consultation with an oncologist and otorhinolaryngologist, and patients responded well to the treatment. Owing to its cytoreductive action, AML induction therapy exposes the patient to various adverse events, causing significant ocular and systemic morbidity. All the diagnosed patients of AML are recommended to undergo a baseline ocular assessment.

ENT manifestations of myeloid sarcoma

Myeloid sarcoma (MS) is a rare extra-medullary manifestation of acute myeloid leukaemia (AML) in the form of a first manifestation, progression or recurrence. Mostly located in the bones, it has the particularity of reaching the ENT sphere by mimicking common patho-logies, leading to a delay in diagnosis and treatment. The -mastoid involvement that we have encountered in our clinical -practice (clinical vignette) shows the complexity of identifying this pathology, with very few cases reported in the literature. The anamnesis, including a -history of AML, and the clinical examination help to guide the investigations. Targeted imaging, in this case CT/MRI combined with a biopsy of the lesion and a marrow puncture, is used to make the -diagnosis. Treatment with chemotherapy is indicated and rapidly initiated.

P026 Acute myeloid sarcoma of the maxilla. An unusual manifestation of acute myeloid leukaemia: a case report

P026 Acute myeloid sarcoma of the maxilla. An unusual manifestation of acute myeloid leukaemia: a case report

Acute myeloid leukemia with monocytic differentiation (myeloid sarcoma) masquerading as bone-soft tissue malignancy

Abstract Introduction/Objective Myeloid sarcoma is an extramedullary solid neoplasm composed of myeloid precursors with or without maturation. This tumor usually occurs simultaneously or following the onset of acute leukemia. Rarely, it can be the first manifestation of acute myeloid leukemia. We report a case of this rare tumor presenting histologically as a bone sarcoma with features of extraskeletal myxoid chondrosarcoma and myoepithelial carcinoma Methods/Case Report A 76-year-old female was referred to our institution for evaluation of a right foot mass associated with pain and swelling. MRI showed a 2.4 x 1.5x 1.2 cm soft tissue mass along the lateral margin of proximal and mid diaphysis of first metatarsal. The clinical and radiologic differential diagnosis was primary bone-soft tissue malignancy, or infection. Histologically, the biopsies showed sheets and cords of cells in a myxoid background. Cytologically the cells were plasmacytoid, mononuclear, mitotically active with immature chromatin, prominent nucleoli, and moderate to abundant cytoplasm. This morphologic appearance elicited the differential diagnosis of extraskeletal myxoid chondrosarcoma, myoepithelial carcinoma, and plasmacytoma. An initial panel of immunohistochemical stains showed the lesional cells to be negative for S-100, SOX-10, pancytokeratin, desmin, p63, EMA, CAM5.2, and CD138 but positive for CD43. Additional immunohistochemistry showed diffuse reactivity for CD33, and lysozyme; CD163 was focally positive, and the cells were negative for CD20, CD3, CD30, CD99, MUM1, CD138, and CD34. A diagnosis of extramedullary acute myeloid leukemia with monocytic differentiation (myeloid sarcoma) was rendered. Subsequently, patient underwent bone marrow biopsy which showed involvement by acute myeloid leukemia with monocytic differentiation. Results (if a Case Study enter NA) NA Conclusion Myeloid sarcoma is a rare tumor and presentation as an isolated metatarsal mass is highly unusual and exceedingly rare. This can mislead clinicians, radiologists, and pathologists. Pathologists need to keep hematopoietic tumors in their differential diagnosis even when the anatomic sites as well as the morphology are not typical of hematopoietic malignancies.

A case of manifestation of acute myeloid leukemia in a teenager on the background of coronavirus infection COVID-19

This clinical case describes the manifestation of acute myeloid leukemia (AML) against the backdrop of severe COVID-19 infection in a teenage patient. The patient’s examination data, medical history, and available scientific literature on the relationship between COVID-19 and leukemia manifestation were studied and analyzed. COVID-19 infection in the context of AML was severe, with respiratory failure and involvement of more than 90% of the lungs according to computed tomography data. Changes observed in peripheral blood did not have specific alterations and only indirectly indicated an unfavorable premorbid background. This clinical case reflects the likelihood of the simultaneous presence of COVID-19 and other acute severe illnesses.

P26 Leukaemia cutis as the first manifestation of acute myeloid leukaemia

Abstract Leukaemia is the most frequent malignancy of childhood, accounting for approximately 30% of all malignancies. Acute leukaemia may present in a variety of extramedullary manifestations, the commonest being leukaemia cutis (LC). LC is the infiltration of the epidermis, dermis or subcutis by neoplastic leukocytes with skin lesions preceding the development of leukaemia in the peripheral blood or bone marrow in just 2–3% of cases. A 6-month-old baby girl was reviewed due to multiple skin lesions which appeared on her left forearm 2 months previously, and spread widely, showing over 50 in the following weeks. They were well-circumscribed, nontender, violaceous nodules. She was clinically well and thriving with no lymphadenopathy or organomegaly. Blood tests and abdominal ultrasound were normal. A skin biopsy of a nodule demonstrated an infiltrate of medium-sized atypical cells involving the dermis and subcutis. Immunostaining showed CD45 expression and the Ki67 proliferation index was high, in keeping with a leukaemic infiltration. Cytogenetics performed on the skin biopsy showed KMT2A rearrangement by FISH. Bone marrow aspirate confirmed the diagnosis of acute myeloid leukaemia with monoblastic morphology, and cytogenetics confirmed the rearrangement as a KMT2A–MLLT10 fusion, which is classified as poor cytogenetic risk. Cerebrospinal fluid analysis was negative. It is vital to get a histological diagnosis (with cytogenetics) in a child presenting with violaceus nodular lesions even if the child is well. Importantly, LC can present with a normal full blood count. A bone marrow aspiration is paramount to confirm the diagnosis. Once leukaemia is diagnosed, cytogenetics plays a key role in stratifying treatment intensity.

Skin mesenchymal niches maintain and protect AML-initiating stem cells.

Leukemia cutis or leukemic cell infiltration in skin is one of the common extramedullary manifestations of acute myeloid leukemia (AML) and signifies a poorer prognosis. However, its pathogenesis and maintenance remain understudied. Here, we report massive AML cell infiltration in the skin in a transplantation-induced MLL-AF9 AML mouse model. These AML cells could regenerate AML after transplantation. Prospective niche characterization revealed that skin harbored mesenchymal progenitor cells (MPCs) with a similar phenotype as BM mesenchymal stem cells. These skin MPCs protected AML-initiating stem cells (LSCs) from chemotherapy in vitro partially via mitochondrial transfer. Furthermore, Lama4 deletion in skin MPCs promoted AML LSC proliferation and chemoresistance. Importantly, more chemoresistant AML LSCs appeared to be retained in Lama4-/- mouse skin after cytarabine treatment. Our study reveals the characteristics and previously unrecognized roles of skin mesenchymal niches in maintaining and protecting AML LSCs during chemotherapy, meriting future exploration of their impact on AML relapse.

Myeloid sarcoma of the larynx as manifestation of the terminal stage of myeloproliferative disease

A rare clinical observation of advanced myeloid sarcoma developed through blast transformation of post-polycythemia vera myelofibrosis as extramedullary manifestation of acute myeloid leukemia affecting larynx, laryngopharynx, trachea, soft tissues of the neck, pleura, and skeletal bones is presented.

PLEURAL EFFUSION AS AN INITIAL PRESENTATION OF EXTRAMEDULLARY ACUTE MYELOID LEUKEMIA: A RARE PHENOMENON

PLEURAL EFFUSION AS AN INITIAL PRESENTATION OF EXTRAMEDULLARY ACUTE MYELOID LEUKEMIA: A RARE PHENOMENON

Isolated unilateral orbital myeloid sarcoma: a case report

Myeloid sarcoma (MS) is a rare solid tumor consisting of immature myeloid cells occurring at an extramedullary site. It can present before, with, or after the manifestation of acute myeloid leukemia or other myeloproliferative diseases, and a few patients never develop bone marrow infiltration. Only a few isolated cases of pediatric orbital MS have been reported, and they are often misdiagnosed. We report a rare case of pediatric isolated orbital MS in a 5-year-old boy who presented with unilateral proptosis. The patient was diagnosed with MS based on MRI and Immunohistochemistry results. Subsequently the patient underwent chemotherapy supported with radiotherapy and showed significant response. Isolated orbital MS presents with clinical and radiological features which are often misleading, making the diagnosis difficult. Therefore, MS should be considered in the differential diagnosis of orbital masses and proptosis even in the absence of acute myeloid leukemia (AML).

Ecthyma gangrenosum as the primary manifestation of acute myeloid leukemia in a previously healthy patient.

Ecthyma gangrenosum as the primary manifestation of acute myeloid leukemia in a previously healthy patient.

Early Ophthalmological Manifestations of Acute Myeloid Leukemia: Current Perspectives.

Acute myeloid leukemia (AML) is a hematological malignancy affecting different organ systems including the eye. The purpose of this review is to present and evaluate the medical literature regarding the early ophthalmological manifestations of acute myeloid leukemia. AML affects the ocular system through direct infiltration of tissues, secondary to hematological abnormalities, or in the form of chloroma or myeloid sarcoma in the brain or orbit consequently leading to a variety of manifestations depending on the ocular tissue involved. It is imperative for ophthalmologists to be aware of the early ophthalmological manifestations of AML which will allow for earlier diagnosis and treatment of this life-threatening disease.

Central diabetes insipidus and partial anterior pituitary dysfunction in acute myeloid leukemia.

SummaryCentral diabetes insipidus (CDI) is a rare manifestation of acute myeloid leukemia (AML) with unclear etiology. When present, CDI in AML has most often been described in patients with chromosome 3 or 7 aberrations and no abnormalities on brain imaging. In this case, we present a woman with newly diagnosed AML t(12;14)(p12;q13) found to have diabetes insipidus (DI) with partial anterior pituitary dysfunction and abnormal brain imaging. While in hospital, the patient developed an elevated serum sodium of 151 mmol/L with a serum osmolality of 323 mmol/kg and urine osmolality of 154 mmol/kg. On history, she reported polyuria and polydipsia for 5 months preceding hospitalization. Based on her clinical symptoms and biochemistry, she was diagnosed with DI and treated using intravenous desmopressin with good effect; sodium improved to 144 mmol/L with a serum osmolality of 302 mmol/kg and urine osmolality of 501 mmol/kg. An MRI of the brain done for the assessment of neurologic involvement revealed symmetric high-T2 signal within the hypothalamus extending into the mamillary bodies bilaterally, a partially empty sella, and loss of the pituitary bright spot. A pituitary panel was completed which suggested partial anterior pituitary dysfunction. The patient’s robust improvement with low-dose desmopressin therapy along with her imaging findings indicated a central rather than nephrogenic cause for her DI. Given the time course of her presentation with respect to her AML diagnosis, MRI findings, and investigations excluding other causes, her CDI and partial anterior pituitary dysfunction were suspected to be secondary to hypothalamic leukemic infiltration.Learning pointsLeukemic infiltration of the pituitary gland is a rare cause of central diabetes insipidus (CDI) in patients with acute myeloid leukemia (AML).Patients with AML and CDI may compensate for polyuria and prevent hypernatremia with increased water intake.AML-associated CDI can require long-term desmopressin treatment, independent of AML response to treatment.

CYTOLOGICAL DIAGNOSIS OF CUTANEOUS MYELOID SARCOMA-A RARE CASE REPORT

Introduction: Granulocytic sarcoma or myeloid sarcoma also known as chloroma is a rare extramedullary tumour which may occur as a manifestation of acute myeloid leukaemia, myelodysplastic syndrome or blast crisis in chronic myeloproliferative disorder or may precede systemic leukaemia. Most common site includes skin, soft tissue and lymph nodes. Orbit is most commonly involved in paediatric age group. Case Report: A case of 51 years old female was admitted in department of haematology, presented with multiple nodules in nasal cavity, forehead, bilateral arms and whole abdomen. Bone marrow aspiration cytology shows 21% myeloid blast with transformation of the CML to AML.FNAC was done from multiple nodules which showed plenty of myeloid precursors and blast and diagnosis of granulocytic sarcoma was given. BCR-ABL study came out positive and karyotyping for haematological malignancy showed t (5; 12)(q31;24.3). Patient was given chemotherapy, but showed no improvement. Conclusion: Granulocytic sarcoma (GS) is a rare malignant solid tumour in adults. Diagnosis of GS has been a problem for pathologist because of relatively immature nature of tumour cells and mostly misdiagnosed as Non Hodgkin's lymphoma. Diagnosis of GS is considered as an adverse prognostic factor but early conrmation of diagnosis and treatment initiation might improve the prognosis.